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BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) [Homo sapiens (human)]

Gene Symbol BSCL2
Entrez Gene ID 26580
Full Name Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Synonyms GNG3LG, HMN5, PELD, SPG17
General protein information
Preferred Names
seipin
Names
seipin
Bernardinelli-Seip congenital lipodystrophy type 2 protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11q13

Summary This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]. lac of sum
Disorder MIM:

606158

Disorder Html: Lipodystrophy, congenital generalized, type 2, 269700 (3); Silver





The following BSCL2 gene sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the BSCL2 gene which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

CloneID RefSeq Accession Definition **Vector *Turnaround time Price Select
OHu18196 NM_001122955 Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$265.3
$379
OHu16794 NM_032667 Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 2, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$223.3
$319
OHu16720 NM_001130702 Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 3, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $379

*Business Day
**You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.


CloneID OHu18196
Accession Version NM_001122955.3 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1389bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product seipin isoform 1
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BG699373.1, BC093048.1 and DB296305.1. This sequence is a reference standard in the RefSeqGene project. On Mar 11, 2011 this sequence version replaced gi:195231754. Summary: This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]. Transcript Variant: This variant (1) encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK223606.1, AF052149.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
ATGTCTACAG AAAAGGTAGA CCAAAAGGAG GAAGCTGGGG AAAAAGAGGT GTGCGGAGAC 
CAGATCAAAG GACCGGACAA AGAGGAGGAA CCACCAGCTG CTGCATCCCA TGGCCAGGGG
TGGCGTCCAG GTGGCAGAGC AGCTAGGAAC GCAAGGCCTG AACCTGGGGC CAGACACCCT
GCTCTCCCGG CCATGGTCAA CGACCCTCCA GTACCTGCCT TACTGTGGGC CCAGGAGGTG
GGCCAAGTCT TGGCAGGCCG TGCCCGCAGG CTGCTGCTGC AGTTTGGGGT GCTCTTCTGC
ACCATCCTCC TTTTGCTCTG GGTGTCTGTC TTCCTCTATG GCTCCTTCTA CTATTCCTAT
ATGCCGACAG TCAGCCACCT CAGCCCTGTG CATTTCTACT ACAGGACCGA CTGTGATTCC
TCCACCACCT CACTCTGCTC CTTCCCTGTT GCCAATGTCT CGCTGACTAA GGGTGGACGT
GATCGGGTGC TGATGTATGG ACAGCCGTAT CGTGTTACCT TAGAGCTTGA GCTGCCAGAG
TCCCCTGTGA ATCAAGATTT GGGCATGTTC TTGGTCACCA TTTCCTGCTA CACCAGAGGT
GGCCGAATCA TCTCCACTTC TTCGCGTTCG GTGATGCTGC ATTACCGCTC AGACCTGCTC
CAGATGCTGG ACACACTGGT CTTCTCTAGC CTCCTGCTAT TTGGCTTTGC AGAGCAGAAG
CAGCTGCTGG AGGTGGAACT CTACGCAGAC TATAGAGAGA ACTCGTACGT GCCGACCACT
GGAGCGATCA TTGAGATCCA CAGCAAGCGC ATCCAGCTGT ATGGAGCCTA CCTCCGCATC
CACGCGCACT TCACTGGGCT CAGATACCTG CTATACAACT TCCCGATGAC CTGCGCCTTC
ATAGGTGTTG CCAGCAACTT CACCTTCCTC AGCGTCATCG TGCTCTTCAG CTACATGCAG
TGGGTGTGGG GGGGCATCTG GCCCCGACAC CGCTTCTCTT TGCAGGTTAA CATCCGAAAA
AGAGACAATT CCCGGAAGGA AGTCCAACGA AGGATCTCTG CTCATCAGCC AGGGCCTGAA
GGCCAGGAGG AGTCAACTCC GCAATCAGAT GTTACAGAGG ATGGTGAGAG CCCTGAAGAT
CCCTCAGGGA CAGAGGGTCA GCTGTCCGAG GAGGAGAAAC CAGATCAGCA GCCCCTGAGC
GGAGAAGAGG AGCTAGAGCC TGAGGCCAGT GATGGTTCAG GCTCCTGGGA AGATGCAGCT
TTGCTGACGG AGGCCAACCT GCCTGCTCCT GCTCCTGCTT CTGCTTCTGC CCCTGTCCTA
GAGACTCTGG GCAGCTCTGA ACCTGCTGGG GGTGCTCTCC GACAGCGCCC CACCTGCTCT
AGTTCCTGA
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeqNP_001116427.1
CDS513..1901
Misc Feature(1)459..461(+)
Misc Feature(2)813..1433(+)
Misc Feature(3)1494..1784(+)
Exon (1)1..599
Gene:BSCL2
Gene Synonym:
Exon (2)600..916
Gene:BSCL2
Gene Synonym:
Exon (3)917..998
Gene:BSCL2
Gene Synonym:
Exon (4)999..1142
Gene:BSCL2
Gene Synonym:
Exon (5)1143..1277
Gene:BSCL2
Gene Synonym:
Exon (6)1278..1375
Gene:BSCL2
Gene Synonym:
Exon (7)1376..1517
Gene:BSCL2
Gene Synonym:
Exon (8)1518..1584
Gene:BSCL2
Gene Synonym:
Exon (9)1585..1665
Gene:BSCL2
Gene Synonym:
Exon (10)1666..1746
Gene:BSCL2
Gene Synonym:
Exon (11)1747..2006
Gene:BSCL2
Gene Synonym:
Translation
Position Chain Variation Link
27 27 c, t dbSNP:548600576
37 37 g, t dbSNP:142457418
71 71 a, g dbSNP:774884376
74 74 c, g dbSNP:560416030
151 151 g, t dbSNP:546428231
154 154 g, t dbSNP:114591017
177 177 c, t dbSNP:181680442
207 207 c, t dbSNP:545513606
213 213 -, tc dbSNP:540585396
222 222 a, g dbSNP:190405606
244 244 c, t dbSNP:562855780
259 259 a, g dbSNP:138960409
281 281 c, t dbSNP:112081021
315 315 c, t dbSNP:574223333
320 320 -, c dbSNP:571952340
332 332 c, t dbSNP:769169637
337 337 c, t dbSNP:749612925
341 341 c, t dbSNP:79848597
356 356 a, g dbSNP:778668917
362 362 c, t dbSNP:768492253
425 425 c, t dbSNP:145129288
442 442 a, g dbSNP:779645126
453 453 a, g dbSNP:780285917
462 462 c, g dbSNP:181391402
467 467 a, g dbSNP:376965340
490 490 a, g dbSNP:537527589
492 492 c, t dbSNP:758941449
504 504 c, g dbSNP:753304434
514 514 a, t dbSNP:765664264
518 518 c, t dbSNP:759939279
519 519 a, g dbSNP:754277392
528 528 a, g dbSNP:766561349
534 534 c, t dbSNP:568624583
543 543 a, g dbSNP:374093011
562 562 a, t dbSNP:773333786
566 566 a, c, t dbSNP:761790583
567 567 a, g dbSNP:17848884
571 571 a, g dbSNP:375791013
572 572 c, g dbSNP:115116507
578 578 c, g dbSNP:148175277
585 585 c, g dbSNP:779838558
586 586 c, g, t dbSNP:745575653
587 587 a, g dbSNP:546863111
596 596 a, g dbSNP:533121140
612 612 a, g dbSNP:767605984
621 621 c, t dbSNP:761845256
626 626 c, t dbSNP:774441432
628 628 a, g dbSNP:531137749
636 636 c, t dbSNP:201493373
637 637 a, g dbSNP:775351747
643 643 a, g dbSNP:769536524
645 645 a, g dbSNP:3763853
649 649 g, t dbSNP:542073179
660 660 a, g dbSNP:770638595
662 662 c, t dbSNP:746461003
669 669 c, t dbSNP:777422952
676 676 c, t dbSNP:755534269
682 682 c, t dbSNP:749865861
696 696 c, t dbSNP:756907468
700 700 c, t dbSNP:756478297
701 701 a, g dbSNP:750833941
705 705 a, g dbSNP:767589914
716 716 c, t dbSNP:757487761
717 717 c, t dbSNP:140762669
721 721 c, t dbSNP:764226928
731 731 c, g dbSNP:762865520
732 732 c, t dbSNP:775340076
733 733 c, t dbSNP:11558433
736 736 c, g, t dbSNP:759201886
739 739 g, t dbSNP:776497908
759 759 a, g dbSNP:770641122
761 761 c, t dbSNP:746722132
769 769 a, g dbSNP:772832629
777 777 c, t dbSNP:771754989
778 778 c, g, t dbSNP:780387759
782 782 g, t dbSNP:756668260
785 785 a, g dbSNP:572867847
788 788 a, g dbSNP:781626368
797 797 g, t dbSNP:568354548
811 811 g, t dbSNP:147314661
820 820 a, t dbSNP:751840132
832 832 a, g dbSNP:764139253
845 845 c, t dbSNP:142016433
848 848 c, g dbSNP:545775232
850 850 a, g dbSNP:148132646
856 856 c, t dbSNP:765023622
857 857 c, t dbSNP:200922424
871 871 a, g dbSNP:370905417
878 878 a, g dbSNP:776003071
881 881 a, g dbSNP:199982733
882 882 a, g dbSNP:760380687
888 888 c, t dbSNP:773037659
890 890 c, t dbSNP:771883988
896 896 cc, gga dbSNP:786205068
897 897 -, ga dbSNP:773357713
897 897 c, g dbSNP:761180242
899 899 c, t dbSNP:773926348
906 906 -, ttct dbSNP:767225271
908 908 c, g dbSNP:770133194
909 909 c, t dbSNP:746458422
912 912 c, t dbSNP:781527096
914 914 c, t dbSNP:557044760
920 920 c, t dbSNP:754001369
932 932 c, t dbSNP:780093151
935 935 c, t dbSNP:756135904
937 937 c, t dbSNP:750176844
940 940 c, t dbSNP:767486914
944 944 a, t dbSNP:144774892
947 947 -, ct dbSNP:762779983
953 953 c, t dbSNP:267603078
955 955 c, t dbSNP:751277966
959 959 g, t dbSNP:763484529
960 960 a, g dbSNP:149412531
967 967 a, g dbSNP:137852972
973 973 c, t dbSNP:137852973
974 974 a, g dbSNP:766801709
978 978 a, g dbSNP:137930278
981 981 a, g dbSNP:773548699
990 990 c, t dbSNP:772536764
991 991 a, g dbSNP:748287282
996 996 c, t dbSNP:774590929
997 997 a, g dbSNP:768780378
999 999 a, g dbSNP:749589212
1000 1000 g, t dbSNP:775698241
1005 1005 -, aa dbSNP:786205069
1009 1009 a, g dbSNP:371113921
1012 1012 a, g dbSNP:778171363
1019 1019 -, gt dbSNP:786205070
1019 1019 a, g dbSNP:145393127
1021 1021 -, atcgt dbSNP:587777608
1023 1023 c, t dbSNP:781147014
1024 1024 a, g, t dbSNP:377609967
1025 1025 c, t dbSNP:777493184
1029 1029 -, a dbSNP:786205071
1035 1035 a, g dbSNP:772476337
1037 1037 a, g dbSNP:758029688
1038 1038 c, t dbSNP:752392333
1044 1044 c, g, t dbSNP:760613992
1050 1050 g, t dbSNP:587777607
1058 1058 a, t dbSNP:753309219
1059 1059 a, g dbSNP:768008962
1067 1067 a, t dbSNP:374507554
1069 1069 a, g dbSNP:751948915
1091 1091 c, t dbSNP:764424992
1097 1097 c, g dbSNP:571672404
1100 1100 c, t dbSNP:369806785
1116 1116 c, t dbSNP:137852970
1117 1117 a, g dbSNP:771534001
1122 1122 a, g dbSNP:759642646
1127 1127 c, t dbSNP:140208002
1128 1128 a, g dbSNP:770894326
1132 1132 c, g dbSNP:746973203
1133 1133 c, t dbSNP:777598096
1136 1136 a, g dbSNP:138532996
1140 1140 g, t dbSNP:747968134
1141 1141 c, t dbSNP:778486956
1142 1142 a, c, g dbSNP:150158560
1153 1153 a, g dbSNP:544020840
1178 1178 a, c, g dbSNP:755623017
1187 1187 -, a dbSNP:771074843
1196 1196 c, t dbSNP:745419166
1201 1201 a, g dbSNP:778378228
1203 1203 c, t dbSNP:758991179
1211 1211 a, g dbSNP:368353394
1249 1249 -, ccg dbSNP:747297291
1249 1249 a, g dbSNP:765752109
1253 1253 c, g dbSNP:755200939
1255 1255 a, c dbSNP:754043914
1256 1256 c, t dbSNP:766655185
1257 1257 a, g dbSNP:10776
1263 1263 c, t dbSNP:756196182
1265 1265 c, t dbSNP:773290851
1269 1269 g, t dbSNP:137852975
1274 1274 a, c dbSNP:200644629
1276 1276 c, t dbSNP:761806607
1277 1277 a, g dbSNP:774120735
1280 1280 c, t dbSNP:746544677
1281 1281 a, g dbSNP:779513433
1285 1285 c, t dbSNP:769219167
1286 1286 a, g dbSNP:754629431
1297 1297 c, t dbSNP:140896339
1298 1298 a, g dbSNP:780533531
1301 1301 c, t dbSNP:756278107
1313 1313 c, t dbSNP:750694484
1318 1318 a, g dbSNP:781217574
1320 1320 a, c, t dbSNP:751664305
1321 1321 a, g dbSNP:763884653
1331 1331 g, t dbSNP:539700774
1335 1335 a, g dbSNP:151018278
1337 1337 -, tgga dbSNP:777984500
1338 1338 c, g dbSNP:137852971
1340 1340 -, c dbSNP:758843908
1347 1347 c, t dbSNP:759231362
1348 1348 a, g, t dbSNP:142608646
1356 1356 a, g dbSNP:190842600
1357 1357 c, t dbSNP:185341934
1358 1358 a, g dbSNP:375554369
1365 1365 a, g dbSNP:749862649
1373 1373 c, t dbSNP:370926100
1378 1378 a, g dbSNP:760470794
1380 1380 c, g dbSNP:772582974
1382 1382 c, g dbSNP:767104988
1394 1394 c, g dbSNP:786204131
1397 1397 a, g dbSNP:559783362
1399 1399 c, t dbSNP:776027981
1402 1402 c, g dbSNP:770308765
1407 1407 -, tgcg dbSNP:755560879
1407 1407 a, g dbSNP:141377075
1414 1414 c, t dbSNP:776986432
1421 1421 g, t dbSNP:771142315
1424 1424 c, t dbSNP:747317954
1435 1435 a, c, t dbSNP:758460754
1445 1445 c, t dbSNP:748195771
1446 1446 a, g dbSNP:754683462
1447 1447 c, t dbSNP:754969234
1449 1449 a, g dbSNP:753679234
1451 1451 c, t dbSNP:200300686
1454 1454 a, g dbSNP:755805325
1467 1467 a, g dbSNP:369511412
1480 1480 g, t dbSNP:367783346
1484 1484 a, g dbSNP:761339151
1485 1485 a, c, g, t dbSNP:760106114
1486 1486 -, g dbSNP:749890533
1497 1497 c, t dbSNP:587777606
1498 1498 a, g dbSNP:771322168
1499 1499 a, c dbSNP:747361384
1503 1503 c, t dbSNP:773431994
1504 1504 a, g dbSNP:201229787
1508 1508 c, g dbSNP:748190546
1516 1516 a, c dbSNP:779199750
1524 1524 -, atc dbSNP:761548202
1527 1527 c, t dbSNP:137852974
1528 1528 a, g dbSNP:757850010
1529 1529 a, g dbSNP:147902831
1534 1534 a, c, g dbSNP:144725547
1537 1537 a, c dbSNP:761151329
1543 1543 c, t dbSNP:140676897
1545 1545 c, t dbSNP:767820877
1546 1546 a, g dbSNP:202072835
1558 1558 a, c dbSNP:774675617
1559 1559 a, g dbSNP:769021944
1560 1560 c, t dbSNP:763070770
1561 1561 a, g dbSNP:749917957
1566 1566 a, g dbSNP:775718358
1569 1569 a, t dbSNP:769769807
1580 1580 a, g dbSNP:745853578
1581 1581 c, t dbSNP:781022347
1583 1583 a, g, t dbSNP:113336810
1601 1601 a, g dbSNP:764682700
1608 1608 a, g dbSNP:776379711
1612 1612 c, t dbSNP:144245125
1613 1613 a, g dbSNP:746737457
1614 1614 a, c dbSNP:149990643
1618 1618 c, t dbSNP:771698323
1623 1623 a, g dbSNP:747846786
1632 1632 c, g dbSNP:778455259
1642 1642 a, g dbSNP:374170281
1649 1649 a, g dbSNP:6856
1650 1650 a, g dbSNP:368900617
1655 1655 c, t dbSNP:150914934
1656 1656 c, t dbSNP:757846034
1657 1657 c, t dbSNP:149907021
1658 1658 -, ag dbSNP:762174973
1659 1659 a, g dbSNP:772516974
1672 1672 a, g dbSNP:779682500
1679 1679 c, g, t dbSNP:17850877
1680 1680 a, g dbSNP:141518903
1685 1685 a, g dbSNP:758800110
1686 1686 -, gag dbSNP:769661232
1699 1699 a, g dbSNP:753131873
1705 1705 c, g dbSNP:778931376
1708 1708 c, t dbSNP:755290954
1709 1709 c, g dbSNP:753846718
1712 1712 c, t dbSNP:766492897
1713 1713 a, g dbSNP:138964424
1714 1714 a, g, t dbSNP:767463971
1722 1722 -, gag dbSNP:556562410
1724 1724 a, g dbSNP:563653317
1737 1737 c, g dbSNP:774201363
1742 1742 c, t dbSNP:768191284
1763 1763 a, g dbSNP:768646836
1765 1765 a, g dbSNP:759063057
1766 1766 c, t dbSNP:776343859
1776 1776 c, g dbSNP:772442281
1781 1781 a, g dbSNP:748736063
1783 1783 a, g dbSNP:779114853
1786 1786 a, c dbSNP:769023011
1792 1792 c, t dbSNP:145649423
1794 1794 c, t dbSNP:369732238
1800 1800 -, cctgctcctgct dbSNP:776687260
1800 1800 c, t dbSNP:377310581
1810 1810 c, t dbSNP:141657385
1811 1811 -, cctgct dbSNP:771054711
1812 1812 c, g, t dbSNP:199584887
1813 1813 c, t dbSNP:1045933
1817 1817 -, ttctgc dbSNP:778093697
1821 1821 c, g dbSNP:199787351
1822 1822 -, ttctgc dbSNP:747175358
1822 1822 a, c dbSNP:751558047
1824 1824 c, t dbSNP:763972632
1832 1832 a, g dbSNP:376418772
1833 1833 a, g dbSNP:1045944
1847 1847 c, g dbSNP:752558297
1848 1848 -, t dbSNP:772211936
1849 1849 a, g dbSNP:3185964
1850 1850 a, t dbSNP:764974038
1853 1853 -, a dbSNP:748492948
1862 1862 g, t dbSNP:759317218
1864 1864 c, g dbSNP:779952369
1872 1872 c, t dbSNP:138515091
1873 1873 a, g dbSNP:143017094
1877 1877 a, g dbSNP:529970386
1879 1879 a, g dbSNP:149466797
1881 1881 c, t dbSNP:769048111
1883 1883 a, c dbSNP:749597554
1888 1888 a, g dbSNP:775890636
1891 1891 c, t dbSNP:3186041
1894 1894 c, g dbSNP:769997563
1895 1895 a, t dbSNP:746128300
1899 1899 a, t dbSNP:112311529
1919 1919 c, g dbSNP:538682035
1922 1922 -, a dbSNP:755542483
1925 1925 a, t dbSNP:757310587
1942 1942 c, g dbSNP:747087493
1947 1947 a, t dbSNP:777695987
1949 1949 a, c dbSNP:576081892
1950 1950 g, t dbSNP:368144792
1951 1951 c, t dbSNP:765167711
1953 1953 c, t dbSNP:374017840
1955 1955 c, t dbSNP:535829182
1958 1958 a, c, g, t dbSNP:567462672
1959 1959 a, g dbSNP:755714656
1960 1960 c, t dbSNP:764649212
1971 1971 a, g dbSNP:763517904
1972 1972 c, t dbSNP:775798921
1979 1979 c, t dbSNP:566951883
1985 1985 a, g dbSNP:770191886
2006 2006 -, g dbSNP:749872089

Target ORF information:

RefSeq Version NM_001122955
Organism Homo sapiens (human)
Definition Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001122955

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
ATGTCTACAG AAAAGGTAGA CCAAAAGGAG GAAGCTGGGG AAAAAGAGGT GTGCGGAGAC 
CAGATCAAAG GACCGGACAA AGAGGAGGAA CCACCAGCTG CTGCATCCCA TGGCCAGGGG
TGGCGTCCAG GTGGCAGAGC AGCTAGGAAC GCAAGGCCTG AACCTGGGGC CAGACACCCT
GCTCTCCCGG CCATGGTCAA CGACCCTCCA GTACCTGCCT TACTGTGGGC CCAGGAGGTG
GGCCAAGTCT TGGCAGGCCG TGCCCGCAGG CTGCTGCTGC AGTTTGGGGT GCTCTTCTGC
ACCATCCTCC TTTTGCTCTG GGTGTCTGTC TTCCTCTATG GCTCCTTCTA CTATTCCTAT
ATGCCGACAG TCAGCCACCT CAGCCCTGTG CATTTCTACT ACAGGACCGA CTGTGATTCC
TCCACCACCT CACTCTGCTC CTTCCCTGTT GCCAATGTCT CGCTGACTAA GGGTGGACGT
GATCGGGTGC TGATGTATGG ACAGCCGTAT CGTGTTACCT TAGAGCTTGA GCTGCCAGAG
TCCCCTGTGA ATCAAGATTT GGGCATGTTC TTGGTCACCA TTTCCTGCTA CACCAGAGGT
GGCCGAATCA TCTCCACTTC TTCGCGTTCG GTGATGCTGC ATTACCGCTC AGACCTGCTC
CAGATGCTGG ACACACTGGT CTTCTCTAGC CTCCTGCTAT TTGGCTTTGC AGAGCAGAAG
CAGCTGCTGG AGGTGGAACT CTACGCAGAC TATAGAGAGA ACTCGTACGT GCCGACCACT
GGAGCGATCA TTGAGATCCA CAGCAAGCGC ATCCAGCTGT ATGGAGCCTA CCTCCGCATC
CACGCGCACT TCACTGGGCT CAGATACCTG CTATACAACT TCCCGATGAC CTGCGCCTTC
ATAGGTGTTG CCAGCAACTT CACCTTCCTC AGCGTCATCG TGCTCTTCAG CTACATGCAG
TGGGTGTGGG GGGGCATCTG GCCCCGACAC CGCTTCTCTT TGCAGGTTAA CATCCGAAAA
AGAGACAATT CCCGGAAGGA AGTCCAACGA AGGATCTCTG CTCATCAGCC AGGGCCTGAA
GGCCAGGAGG AGTCAACTCC GCAATCAGAT GTTACAGAGG ATGGTGAGAG CCCTGAAGAT
CCCTCAGGGA CAGAGGGTCA GCTGTCCGAG GAGGAGAAAC CAGATCAGCA GCCCCTGAGC
GGAGAAGAGG AGCTAGAGCC TGAGGCCAGT GATGGTTCAG GCTCCTGGGA AGATGCAGCT
TTGCTGACGG AGGCCAACCT GCCTGCTCCT GCTCCTGCTT CTGCTTCTGC CCCTGTCCTA
GAGACTCTGG GCAGCTCTGA ACCTGCTGGG GGTGCTCTCC GACAGCGCCC CACCTGCTCT
AGTTCCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu16794
Accession Version NM_032667.6 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1197bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product seipin isoform 2
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK027524.1, BC041640.1 and DB296305.1. On Mar 11, 2011 this sequence version replaced gi:171906560. Summary: This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]. Transcript Variant: This variant (2) has an alternate 5' exon and uses a downstream AUG start codon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus, as compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK075317.1, AK225029.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
ATGGTCAACG ACCCTCCAGT ACCTGCCTTA CTGTGGGCCC AGGAGGTGGG CCAAGTCTTG 
GCAGGCCGTG CCCGCAGGCT GCTGCTGCAG TTTGGGGTGC TCTTCTGCAC CATCCTCCTT
TTGCTCTGGG TGTCTGTCTT CCTCTATGGC TCCTTCTACT ATTCCTATAT GCCGACAGTC
AGCCACCTCA GCCCTGTGCA TTTCTACTAC AGGACCGACT GTGATTCCTC CACCACCTCA
CTCTGCTCCT TCCCTGTTGC CAATGTCTCG CTGACTAAGG GTGGACGTGA TCGGGTGCTG
ATGTATGGAC AGCCGTATCG TGTTACCTTA GAGCTTGAGC TGCCAGAGTC CCCTGTGAAT
CAAGATTTGG GCATGTTCTT GGTCACCATT TCCTGCTACA CCAGAGGTGG CCGAATCATC
TCCACTTCTT CGCGTTCGGT GATGCTGCAT TACCGCTCAG ACCTGCTCCA GATGCTGGAC
ACACTGGTCT TCTCTAGCCT CCTGCTATTT GGCTTTGCAG AGCAGAAGCA GCTGCTGGAG
GTGGAACTCT ACGCAGACTA TAGAGAGAAC TCGTACGTGC CGACCACTGG AGCGATCATT
GAGATCCACA GCAAGCGCAT CCAGCTGTAT GGAGCCTACC TCCGCATCCA CGCGCACTTC
ACTGGGCTCA GATACCTGCT ATACAACTTC CCGATGACCT GCGCCTTCAT AGGTGTTGCC
AGCAACTTCA CCTTCCTCAG CGTCATCGTG CTCTTCAGCT ACATGCAGTG GGTGTGGGGG
GGCATCTGGC CCCGACACCG CTTCTCTTTG CAGGTTAACA TCCGAAAAAG AGACAATTCC
CGGAAGGAAG TCCAACGAAG GATCTCTGCT CATCAGCCAG GGCCTGAAGG CCAGGAGGAG
TCAACTCCGC AATCAGATGT TACAGAGGAT GGTGAGAGCC CTGAAGATCC CTCAGGGACA
GAGGGTCAGC TGTCCGAGGA GGAGAAACCA GATCAGCAGC CCCTGAGCGG AGAAGAGGAG
CTAGAGCCTG AGGCCAGTGA TGGTTCAGGC TCCTGGGAAG ATGCAGCTTT GCTGACGGAG
GCCAACCTGC CTGCTCCTGC TCCTGCTTCT GCTTCTGCCC CTGTCCTAGA GACTCTGGGC
AGCTCTGAAC CTGCTGGGGG TGCTCTCCGA CAGCGCCCCA CCTGCTCTAG TTCCTGA
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeqNP_116056.3
CDS219..1415
Misc Feature(1)111..113(+)
Misc Feature(2)297..359(+)
Misc Feature(3)327..947(+)
Misc Feature(4)945..1007(+)
Misc Feature(5)1008..1298(+)
Exon (1)1..113
Gene:BSCL2
Gene Synonym:
Exon (2)114..430
Gene:BSCL2
Gene Synonym:
Exon (3)431..512
Gene:BSCL2
Gene Synonym:
Exon (4)513..656
Gene:BSCL2
Gene Synonym:
Exon (5)657..791
Gene:BSCL2
Gene Synonym:
Exon (6)792..889
Gene:BSCL2
Gene Synonym:
Exon (7)890..1031
Gene:BSCL2
Gene Synonym:
Exon (8)1032..1098
Gene:BSCL2
Gene Synonym:
Exon (9)1099..1179
Gene:BSCL2
Gene Synonym:
Exon (10)1180..1260
Gene:BSCL2
Gene Synonym:
Exon (11)1261..1520
Gene:BSCL2
Gene Synonym:
Translation
Position Chain Variation Link
25 25 g, t dbSNP:549450153
26 26 c, t dbSNP:529417327
31 31 c, g dbSNP:374089937
36 36 a, c, g dbSNP:117862461
37 37 a, c dbSNP:117597269
38 38 c, t dbSNP:533416404
46 46 c, t dbSNP:374173364
50 50 a, c dbSNP:775909465
61 61 a, g dbSNP:544356542
65 65 c, g dbSNP:575422877
72 72 c, t dbSNP:111363747
86 86 a, g dbSNP:112877243
112 112 a, g dbSNP:192881882
126 126 a, g dbSNP:767605984
135 135 c, t dbSNP:761845256
140 140 c, t dbSNP:774441432
142 142 a, g dbSNP:531137749
150 150 c, t dbSNP:201493373
151 151 a, g dbSNP:775351747
157 157 a, g dbSNP:769536524
159 159 a, g dbSNP:3763853
163 163 g, t dbSNP:542073179
174 174 a, g dbSNP:770638595
176 176 c, t dbSNP:746461003
183 183 c, t dbSNP:777422952
190 190 c, t dbSNP:755534269
196 196 c, t dbSNP:749865861
210 210 c, t dbSNP:756907468
214 214 c, t dbSNP:756478297
215 215 a, g dbSNP:750833941
219 219 a, g dbSNP:767589914
230 230 c, t dbSNP:757487761
231 231 c, t dbSNP:140762669
235 235 c, t dbSNP:764226928
245 245 c, g dbSNP:762865520
246 246 c, t dbSNP:775340076
247 247 c, t dbSNP:11558433
250 250 c, g, t dbSNP:759201886
253 253 g, t dbSNP:776497908
273 273 a, g dbSNP:770641122
275 275 c, t dbSNP:746722132
283 283 a, g dbSNP:772832629
291 291 c, t dbSNP:771754989
292 292 c, g, t dbSNP:780387759
296 296 g, t dbSNP:756668260
299 299 a, g dbSNP:572867847
302 302 a, g dbSNP:781626368
311 311 g, t dbSNP:568354548
325 325 g, t dbSNP:147314661
334 334 a, t dbSNP:751840132
346 346 a, g dbSNP:764139253
359 359 c, t dbSNP:142016433
362 362 c, g dbSNP:545775232
364 364 a, g dbSNP:148132646
370 370 c, t dbSNP:765023622
371 371 c, t dbSNP:200922424
385 385 a, g dbSNP:370905417
392 392 a, g dbSNP:776003071
395 395 a, g dbSNP:199982733
396 396 a, g dbSNP:760380687
402 402 c, t dbSNP:773037659
404 404 c, t dbSNP:771883988
410 410 cc, gga dbSNP:786205068
411 411 -, ga dbSNP:773357713
411 411 c, g dbSNP:761180242
413 413 c, t dbSNP:773926348
420 420 -, ttct dbSNP:767225271
422 422 c, g dbSNP:770133194
423 423 c, t dbSNP:746458422
426 426 c, t dbSNP:781527096
428 428 c, t dbSNP:557044760
434 434 c, t dbSNP:754001369
446 446 c, t dbSNP:780093151
449 449 c, t dbSNP:756135904
451 451 c, t dbSNP:750176844
454 454 c, t dbSNP:767486914
458 458 a, t dbSNP:144774892
461 461 -, ct dbSNP:762779983
467 467 c, t dbSNP:267603078
469 469 c, t dbSNP:751277966
473 473 g, t dbSNP:763484529
474 474 a, g dbSNP:149412531
481 481 a, g dbSNP:137852972
487 487 c, t dbSNP:137852973
488 488 a, g dbSNP:766801709
492 492 a, g dbSNP:137930278
495 495 a, g dbSNP:773548699
504 504 c, t dbSNP:772536764
505 505 a, g dbSNP:748287282
510 510 c, t dbSNP:774590929
511 511 a, g dbSNP:768780378
513 513 a, g dbSNP:749589212
514 514 g, t dbSNP:775698241
519 519 -, aa dbSNP:786205069
523 523 a, g dbSNP:371113921
526 526 a, g dbSNP:778171363
533 533 -, gt dbSNP:786205070
533 533 a, g dbSNP:145393127
535 535 -, atcgt dbSNP:587777608
537 537 c, t dbSNP:781147014
538 538 a, g, t dbSNP:377609967
539 539 c, t dbSNP:777493184
543 543 -, a dbSNP:786205071
549 549 a, g dbSNP:772476337
551 551 a, g dbSNP:758029688
552 552 c, t dbSNP:752392333
558 558 c, g, t dbSNP:760613992
564 564 g, t dbSNP:587777607
572 572 a, t dbSNP:753309219
573 573 a, g dbSNP:768008962
581 581 a, t dbSNP:374507554
583 583 a, g dbSNP:751948915
605 605 c, t dbSNP:764424992
611 611 c, g dbSNP:571672404
614 614 c, t dbSNP:369806785
630 630 c, t dbSNP:137852970
631 631 a, g dbSNP:771534001
636 636 a, g dbSNP:759642646
641 641 c, t dbSNP:140208002
642 642 a, g dbSNP:770894326
646 646 c, g dbSNP:746973203
647 647 c, t dbSNP:777598096
650 650 a, g dbSNP:138532996
654 654 g, t dbSNP:747968134
655 655 c, t dbSNP:778486956
656 656 a, c, g dbSNP:150158560
667 667 a, g dbSNP:544020840
692 692 a, c, g dbSNP:755623017
701 701 -, a dbSNP:771074843
710 710 c, t dbSNP:745419166
715 715 a, g dbSNP:778378228
717 717 c, t dbSNP:758991179
725 725 a, g dbSNP:368353394
763 763 -, ccg dbSNP:747297291
763 763 a, g dbSNP:765752109
767 767 c, g dbSNP:755200939
769 769 a, c dbSNP:754043914
770 770 c, t dbSNP:766655185
771 771 a, g dbSNP:10776
777 777 c, t dbSNP:756196182
779 779 c, t dbSNP:773290851
783 783 g, t dbSNP:137852975
788 788 a, c dbSNP:200644629
790 790 c, t dbSNP:761806607
791 791 a, g dbSNP:774120735
794 794 c, t dbSNP:746544677
795 795 a, g dbSNP:779513433
799 799 c, t dbSNP:769219167
800 800 a, g dbSNP:754629431
811 811 c, t dbSNP:140896339
812 812 a, g dbSNP:780533531
815 815 c, t dbSNP:756278107
827 827 c, t dbSNP:750694484
832 832 a, g dbSNP:781217574
834 834 a, c, t dbSNP:751664305
835 835 a, g dbSNP:763884653
845 845 g, t dbSNP:539700774
849 849 a, g dbSNP:151018278
851 851 -, tgga dbSNP:777984500
852 852 c, g dbSNP:137852971
854 854 -, c dbSNP:758843908
861 861 c, t dbSNP:759231362
862 862 a, g, t dbSNP:142608646
870 870 a, g dbSNP:190842600
871 871 c, t dbSNP:185341934
872 872 a, g dbSNP:375554369
879 879 a, g dbSNP:749862649
887 887 c, t dbSNP:370926100
892 892 a, g dbSNP:760470794
894 894 c, g dbSNP:772582974
896 896 c, g dbSNP:767104988
908 908 c, g dbSNP:786204131
911 911 a, g dbSNP:559783362
913 913 c, t dbSNP:776027981
916 916 c, g dbSNP:770308765
921 921 -, tgcg dbSNP:755560879
921 921 a, g dbSNP:141377075
928 928 c, t dbSNP:776986432
935 935 g, t dbSNP:771142315
938 938 c, t dbSNP:747317954
949 949 a, c, t dbSNP:758460754
959 959 c, t dbSNP:748195771
960 960 a, g dbSNP:754683462
961 961 c, t dbSNP:754969234
963 963 a, g dbSNP:753679234
965 965 c, t dbSNP:200300686
968 968 a, g dbSNP:755805325
981 981 a, g dbSNP:369511412
994 994 g, t dbSNP:367783346
998 998 a, g dbSNP:761339151
999 999 a, c, g, t dbSNP:760106114
1000 1000 -, g dbSNP:749890533
1011 1011 c, t dbSNP:587777606
1012 1012 a, g dbSNP:771322168
1013 1013 a, c dbSNP:747361384
1017 1017 c, t dbSNP:773431994
1018 1018 a, g dbSNP:201229787
1022 1022 c, g dbSNP:748190546
1030 1030 a, c dbSNP:779199750
1038 1038 -, atc dbSNP:761548202
1041 1041 c, t dbSNP:137852974
1042 1042 a, g dbSNP:757850010
1043 1043 a, g dbSNP:147902831
1048 1048 a, c, g dbSNP:144725547
1051 1051 a, c dbSNP:761151329
1057 1057 c, t dbSNP:140676897
1059 1059 c, t dbSNP:767820877
1060 1060 a, g dbSNP:202072835
1072 1072 a, c dbSNP:774675617
1073 1073 a, g dbSNP:769021944
1074 1074 c, t dbSNP:763070770
1075 1075 a, g dbSNP:749917957
1080 1080 a, g dbSNP:775718358
1083 1083 a, t dbSNP:769769807
1094 1094 a, g dbSNP:745853578
1095 1095 c, t dbSNP:781022347
1097 1097 a, g, t dbSNP:113336810
1115 1115 a, g dbSNP:764682700
1122 1122 a, g dbSNP:776379711
1126 1126 c, t dbSNP:144245125
1127 1127 a, g dbSNP:746737457
1128 1128 a, c dbSNP:149990643
1132 1132 c, t dbSNP:771698323
1137 1137 a, g dbSNP:747846786
1146 1146 c, g dbSNP:778455259
1156 1156 a, g dbSNP:374170281
1163 1163 a, g dbSNP:6856
1164 1164 a, g dbSNP:368900617
1169 1169 c, t dbSNP:150914934
1170 1170 c, t dbSNP:757846034
1171 1171 c, t dbSNP:149907021
1172 1172 -, ag dbSNP:762174973
1173 1173 a, g dbSNP:772516974
1186 1186 a, g dbSNP:779682500
1193 1193 c, g, t dbSNP:17850877
1194 1194 a, g dbSNP:141518903
1199 1199 a, g dbSNP:758800110
1200 1200 -, gag dbSNP:769661232
1213 1213 a, g dbSNP:753131873
1219 1219 c, g dbSNP:778931376
1222 1222 c, t dbSNP:755290954
1223 1223 c, g dbSNP:753846718
1226 1226 c, t dbSNP:766492897
1227 1227 a, g dbSNP:138964424
1228 1228 a, g, t dbSNP:767463971
1236 1236 -, gag dbSNP:556562410
1238 1238 a, g dbSNP:563653317
1251 1251 c, g dbSNP:774201363
1256 1256 c, t dbSNP:768191284
1277 1277 a, g dbSNP:768646836
1279 1279 a, g dbSNP:759063057
1280 1280 c, t dbSNP:776343859
1290 1290 c, g dbSNP:772442281
1295 1295 a, g dbSNP:748736063
1297 1297 a, g dbSNP:779114853
1300 1300 a, c dbSNP:769023011
1306 1306 c, t dbSNP:145649423
1308 1308 c, t dbSNP:369732238
1314 1314 -, cctgctcctgct dbSNP:776687260
1314 1314 c, t dbSNP:377310581
1324 1324 c, t dbSNP:141657385
1325 1325 -, cctgct dbSNP:771054711
1326 1326 c, g, t dbSNP:199584887
1327 1327 c, t dbSNP:1045933
1331 1331 -, ttctgc dbSNP:778093697
1335 1335 c, g dbSNP:199787351
1336 1336 -, ttctgc dbSNP:747175358
1336 1336 a, c dbSNP:751558047
1338 1338 c, t dbSNP:763972632
1346 1346 a, g dbSNP:376418772
1347 1347 a, g dbSNP:1045944
1361 1361 c, g dbSNP:752558297
1362 1362 -, t dbSNP:772211936
1363 1363 a, g dbSNP:3185964
1364 1364 a, t dbSNP:764974038
1367 1367 -, a dbSNP:748492948
1376 1376 g, t dbSNP:759317218
1378 1378 c, g dbSNP:779952369
1386 1386 c, t dbSNP:138515091
1387 1387 a, g dbSNP:143017094
1391 1391 a, g dbSNP:529970386
1393 1393 a, g dbSNP:149466797
1395 1395 c, t dbSNP:769048111
1397 1397 a, c dbSNP:749597554
1402 1402 a, g dbSNP:775890636
1405 1405 c, t dbSNP:3186041
1408 1408 c, g dbSNP:769997563
1409 1409 a, t dbSNP:746128300
1413 1413 a, t dbSNP:112311529
1433 1433 c, g dbSNP:538682035
1436 1436 -, a dbSNP:755542483
1439 1439 a, t dbSNP:757310587
1456 1456 c, g dbSNP:747087493
1461 1461 a, t dbSNP:777695987
1463 1463 a, c dbSNP:576081892
1464 1464 g, t dbSNP:368144792
1465 1465 c, t dbSNP:765167711
1467 1467 c, t dbSNP:374017840
1469 1469 c, t dbSNP:535829182
1472 1472 a, c, g, t dbSNP:567462672
1473 1473 a, g dbSNP:755714656
1474 1474 c, t dbSNP:764649212
1485 1485 a, g dbSNP:763517904
1486 1486 c, t dbSNP:775798921
1493 1493 c, t dbSNP:566951883
1499 1499 a, g dbSNP:770191886
1520 1520 -, g dbSNP:749872089

Target ORF information:

RefSeq Version NM_032667
Organism Homo sapiens (human)
Definition Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 2, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_032667

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
ATGGTCAACG ACCCTCCAGT ACCTGCCTTA CTGTGGGCCC AGGAGGTGGG CCAAGTCTTG 
GCAGGCCGTG CCCGCAGGCT GCTGCTGCAG TTTGGGGTGC TCTTCTGCAC CATCCTCCTT
TTGCTCTGGG TGTCTGTCTT CCTCTATGGC TCCTTCTACT ATTCCTATAT GCCGACAGTC
AGCCACCTCA GCCCTGTGCA TTTCTACTAC AGGACCGACT GTGATTCCTC CACCACCTCA
CTCTGCTCCT TCCCTGTTGC CAATGTCTCG CTGACTAAGG GTGGACGTGA TCGGGTGCTG
ATGTATGGAC AGCCGTATCG TGTTACCTTA GAGCTTGAGC TGCCAGAGTC CCCTGTGAAT
CAAGATTTGG GCATGTTCTT GGTCACCATT TCCTGCTACA CCAGAGGTGG CCGAATCATC
TCCACTTCTT CGCGTTCGGT GATGCTGCAT TACCGCTCAG ACCTGCTCCA GATGCTGGAC
ACACTGGTCT TCTCTAGCCT CCTGCTATTT GGCTTTGCAG AGCAGAAGCA GCTGCTGGAG
GTGGAACTCT ACGCAGACTA TAGAGAGAAC TCGTACGTGC CGACCACTGG AGCGATCATT
GAGATCCACA GCAAGCGCAT CCAGCTGTAT GGAGCCTACC TCCGCATCCA CGCGCACTTC
ACTGGGCTCA GATACCTGCT ATACAACTTC CCGATGACCT GCGCCTTCAT AGGTGTTGCC
AGCAACTTCA CCTTCCTCAG CGTCATCGTG CTCTTCAGCT ACATGCAGTG GGTGTGGGGG
GGCATCTGGC CCCGACACCG CTTCTCTTTG CAGGTTAACA TCCGAAAAAG AGACAATTCC
CGGAAGGAAG TCCAACGAAG GATCTCTGCT CATCAGCCAG GGCCTGAAGG CCAGGAGGAG
TCAACTCCGC AATCAGATGT TACAGAGGAT GGTGAGAGCC CTGAAGATCC CTCAGGGACA
GAGGGTCAGC TGTCCGAGGA GGAGAAACCA GATCAGCAGC CCCTGAGCGG AGAAGAGGAG
CTAGAGCCTG AGGCCAGTGA TGGTTCAGGC TCCTGGGAAG ATGCAGCTTT GCTGACGGAG
GCCAACCTGC CTGCTCCTGC TCCTGCTTCT GCTTCTGCCC CTGTCCTAGA GACTCTGGGC
AGCTCTGAAC CTGCTGGGGG TGCTCTCCGA CAGCGCCCCA CCTGCTCTAG TTCCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu16720
Accession Version NM_001130702.2 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 864bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product seipin isoform 3
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK027524.1 and DB296305.1. On Mar 12, 2011 this sequence version replaced gi:195230752. Summary: This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]. Transcript Variant: This variant (3) has multiple differences, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 3) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK027524.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148874, SAMEA2157437 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
ATGGTCAACG ACCCTCCAGT ACCTGCCTTA CTGTGGGCCC AGGAGGTGGG CCAAGTCTTG 
GCAGGCCGTG CCCGCAGGCT GCTGCTGCAG TTTGGGGTGC TCTTCTGCAC CATCCTCCTT
TTGCTCTGGG TGTCTGTCTT CCTCTATGGC TCCTTCTACT ATTCCTATAT GCCGACAGTC
AGCCACCTCA GCCCTGTGCA TTTCTACTAC AGGACCGACT GTGATTCCTC CACCACCTCA
CTCTGCTCCT TCCCTGTTGC CAATGTCTCG CTGACTAAGG GTGGACGTGA TCGGGTGCTG
ATGTATGGAC AGCCGTATCG TGTTACCTTA GAGCTTGAGC TGCCAGAGTC CCCTGTGAAT
CAAGATTTGG GCATGTTCTT GGTCACCATT TCCTGCTACA CCAGAGGTGG CCGAATCATC
TCCACTTCTT CGCGTTCGGT GATGCTGCAT TACCGCTCAG ACCTGCTCCA GATGCTGGAC
ACACTGGTCT TCTCTAGCCT CCTGCTATTT GGCTTTGCAG AGCAGAAGCA GCTGCTGGAG
GTGGAACTCT ACGCAGACTA TAGAGAGAAC TCGTACGTGC CGACCACTGG AGCGATCATT
GAGATCCACA GCAAGCGCAT CCAGCTGTAT GGAGCCTACC TCCGCATCCA CGCGCACTTC
ACTGGGCTCA GGTTAACATC CGAAAAAGAG ACAATTCCCG GAAGGAAGTC CAACGAAGGA
TCTCTGCTCA TCAGCCAGGG CCTGAAGGCC AGGAGGAGTC AACTCCGCAA TCAGATGTTA
CAGAGGATGG TGAGAGCCCT GAAGATCCCT CAGGGACAGA GGGTCAGCTG TCCGAGGAGG
AGAAACCAGA TCAGCAGCCC CTGA
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeqNP_001124174.2
CDS219..1082
Misc Feature(1)111..113(+)
Misc Feature(2)297..359(+)
Misc Feature(3)327..890(+)
Exon (1)1..113
Gene:BSCL2
Gene Synonym:
Exon (2)114..430
Gene:BSCL2
Gene Synonym:
Exon (3)431..512
Gene:BSCL2
Gene Synonym:
Exon (4)513..656
Gene:BSCL2
Gene Synonym:
Exon (5)657..791
Gene:BSCL2
Gene Synonym:
Exon (6)792..889
Gene:BSCL2
Gene Synonym:
Exon (7)890..956
Gene:BSCL2
Gene Synonym:
Exon (8)957..1037
Gene:BSCL2
Gene Synonym:
Exon (9)1038..1118
Gene:BSCL2
Gene Synonym:
Exon (10)1119..1378
Gene:BSCL2
Gene Synonym:
Translation
Position Chain Variation Link
25 25 g, t dbSNP:549450153
26 26 c, t dbSNP:529417327
31 31 c, g dbSNP:374089937
36 36 a, c, g dbSNP:117862461
37 37 a, c dbSNP:117597269
38 38 c, t dbSNP:533416404
46 46 c, t dbSNP:374173364
50 50 a, c dbSNP:775909465
61 61 a, g dbSNP:544356542
65 65 c, g dbSNP:575422877
72 72 c, t dbSNP:111363747
86 86 a, g dbSNP:112877243
112 112 a, g dbSNP:192881882
126 126 a, g dbSNP:767605984
135 135 c, t dbSNP:761845256
140 140 c, t dbSNP:774441432
142 142 a, g dbSNP:531137749
150 150 c, t dbSNP:201493373
151 151 a, g dbSNP:775351747
157 157 a, g dbSNP:769536524
159 159 a, g dbSNP:3763853
163 163 g, t dbSNP:542073179
174 174 a, g dbSNP:770638595
176 176 c, t dbSNP:746461003
183 183 c, t dbSNP:777422952
190 190 c, t dbSNP:755534269
196 196 c, t dbSNP:749865861
210 210 c, t dbSNP:756907468
214 214 c, t dbSNP:756478297
215 215 a, g dbSNP:750833941
219 219 a, g dbSNP:767589914
230 230 c, t dbSNP:757487761
231 231 c, t dbSNP:140762669
235 235 c, t dbSNP:764226928
245 245 c, g dbSNP:762865520
246 246 c, t dbSNP:775340076
247 247 c, t dbSNP:11558433
250 250 c, g, t dbSNP:759201886
253 253 g, t dbSNP:776497908
273 273 a, g dbSNP:770641122
275 275 c, t dbSNP:746722132
283 283 a, g dbSNP:772832629
291 291 c, t dbSNP:771754989
292 292 c, g, t dbSNP:780387759
296 296 g, t dbSNP:756668260
299 299 a, g dbSNP:572867847
302 302 a, g dbSNP:781626368
311 311 g, t dbSNP:568354548
325 325 g, t dbSNP:147314661
334 334 a, t dbSNP:751840132
346 346 a, g dbSNP:764139253
359 359 c, t dbSNP:142016433
362 362 c, g dbSNP:545775232
364 364 a, g dbSNP:148132646
370 370 c, t dbSNP:765023622
371 371 c, t dbSNP:200922424
385 385 a, g dbSNP:370905417
392 392 a, g dbSNP:776003071
395 395 a, g dbSNP:199982733
396 396 a, g dbSNP:760380687
402 402 c, t dbSNP:773037659
404 404 c, t dbSNP:771883988
410 410 cc, gga dbSNP:786205068
411 411 -, ga dbSNP:773357713
411 411 c, g dbSNP:761180242
413 413 c, t dbSNP:773926348
420 420 -, ttct dbSNP:767225271
422 422 c, g dbSNP:770133194
423 423 c, t dbSNP:746458422
426 426 c, t dbSNP:781527096
428 428 c, t dbSNP:557044760
434 434 c, t dbSNP:754001369
446 446 c, t dbSNP:780093151
449 449 c, t dbSNP:756135904
451 451 c, t dbSNP:750176844
454 454 c, t dbSNP:767486914
458 458 a, t dbSNP:144774892
461 461 -, ct dbSNP:762779983
467 467 c, t dbSNP:267603078
469 469 c, t dbSNP:751277966
473 473 g, t dbSNP:763484529
474 474 a, g dbSNP:149412531
481 481 a, g dbSNP:137852972
487 487 c, t dbSNP:137852973
488 488 a, g dbSNP:766801709
492 492 a, g dbSNP:137930278
495 495 a, g dbSNP:773548699
504 504 c, t dbSNP:772536764
505 505 a, g dbSNP:748287282
510 510 c, t dbSNP:774590929
511 511 a, g dbSNP:768780378
513 513 a, g dbSNP:749589212
514 514 g, t dbSNP:775698241
519 519 -, aa dbSNP:786205069
523 523 a, g dbSNP:371113921
526 526 a, g dbSNP:778171363
533 533 -, gt dbSNP:786205070
533 533 a, g dbSNP:145393127
535 535 -, atcgt dbSNP:587777608
537 537 c, t dbSNP:781147014
538 538 a, g, t dbSNP:377609967
539 539 c, t dbSNP:777493184
543 543 -, a dbSNP:786205071
549 549 a, g dbSNP:772476337
551 551 a, g dbSNP:758029688
552 552 c, t dbSNP:752392333
558 558 c, g, t dbSNP:760613992
564 564 g, t dbSNP:587777607
572 572 a, t dbSNP:753309219
573 573 a, g dbSNP:768008962
581 581 a, t dbSNP:374507554
583 583 a, g dbSNP:751948915
605 605 c, t dbSNP:764424992
611 611 c, g dbSNP:571672404
614 614 c, t dbSNP:369806785
630 630 c, t dbSNP:137852970
631 631 a, g dbSNP:771534001
636 636 a, g dbSNP:759642646
641 641 c, t dbSNP:140208002
642 642 a, g dbSNP:770894326
646 646 c, g dbSNP:746973203
647 647 c, t dbSNP:777598096
650 650 a, g dbSNP:138532996
654 654 g, t dbSNP:747968134
655 655 c, t dbSNP:778486956
656 656 a, c, g dbSNP:150158560
667 667 a, g dbSNP:544020840
692 692 a, c, g dbSNP:755623017
701 701 -, a dbSNP:771074843
710 710 c, t dbSNP:745419166
715 715 a, g dbSNP:778378228
717 717 c, t dbSNP:758991179
725 725 a, g dbSNP:368353394
763 763 -, ccg dbSNP:747297291
763 763 a, g dbSNP:765752109
767 767 c, g dbSNP:755200939
769 769 a, c dbSNP:754043914
770 770 c, t dbSNP:766655185
771 771 a, g dbSNP:10776
777 777 c, t dbSNP:756196182
779 779 c, t dbSNP:773290851
783 783 g, t dbSNP:137852975
788 788 a, c dbSNP:200644629
790 790 c, t dbSNP:761806607
791 791 a, g dbSNP:774120735
794 794 c, t dbSNP:746544677
795 795 a, g dbSNP:779513433
799 799 c, t dbSNP:769219167
800 800 a, g dbSNP:754629431
811 811 c, t dbSNP:140896339
812 812 a, g dbSNP:780533531
815 815 c, t dbSNP:756278107
827 827 c, t dbSNP:750694484
832 832 a, g dbSNP:781217574
834 834 a, c, t dbSNP:751664305
835 835 a, g dbSNP:763884653
845 845 g, t dbSNP:539700774
849 849 a, g dbSNP:151018278
851 851 -, tgga dbSNP:777984500
852 852 c, g dbSNP:137852971
854 854 -, c dbSNP:758843908
861 861 c, t dbSNP:759231362
862 862 a, g, t dbSNP:142608646
870 870 a, g dbSNP:190842600
871 871 c, t dbSNP:185341934
872 872 a, g dbSNP:375554369
879 879 a, g dbSNP:749862649
887 887 c, t dbSNP:370926100
896 896 -, atc dbSNP:761548202
899 899 c, t dbSNP:137852974
900 900 a, g dbSNP:757850010
901 901 a, g dbSNP:147902831
906 906 a, c, g dbSNP:144725547
909 909 a, c dbSNP:761151329
915 915 c, t dbSNP:140676897
917 917 c, t dbSNP:767820877
918 918 a, g dbSNP:202072835
930 930 a, c dbSNP:774675617
931 931 a, g dbSNP:769021944
932 932 c, t dbSNP:763070770
933 933 a, g dbSNP:749917957
938 938 a, g dbSNP:775718358
941 941 a, t dbSNP:769769807
952 952 a, g dbSNP:745853578
953 953 c, t dbSNP:781022347
955 955 a, g, t dbSNP:113336810
973 973 a, g dbSNP:764682700
980 980 a, g dbSNP:776379711
984 984 c, t dbSNP:144245125
985 985 a, g dbSNP:746737457
986 986 a, c dbSNP:149990643
990 990 c, t dbSNP:771698323
995 995 a, g dbSNP:747846786
1004 1004 c, g dbSNP:778455259
1014 1014 a, g dbSNP:374170281
1021 1021 a, g dbSNP:6856
1022 1022 a, g dbSNP:368900617
1027 1027 c, t dbSNP:150914934
1028 1028 c, t dbSNP:757846034
1029 1029 c, t dbSNP:149907021
1030 1030 -, ag dbSNP:762174973
1031 1031 a, g dbSNP:772516974
1044 1044 a, g dbSNP:779682500
1051 1051 c, g, t dbSNP:17850877
1052 1052 a, g dbSNP:141518903
1057 1057 a, g dbSNP:758800110
1058 1058 -, gag dbSNP:769661232
1071 1071 a, g dbSNP:753131873
1077 1077 c, g dbSNP:778931376
1080 1080 c, t dbSNP:755290954
1081 1081 c, g dbSNP:753846718
1084 1084 c, t dbSNP:766492897
1085 1085 a, g dbSNP:138964424
1086 1086 a, g, t dbSNP:767463971
1094 1094 -, gag dbSNP:556562410
1096 1096 a, g dbSNP:563653317
1109 1109 c, g dbSNP:774201363
1114 1114 c, t dbSNP:768191284
1135 1135 a, g dbSNP:768646836
1137 1137 a, g dbSNP:759063057
1138 1138 c, t dbSNP:776343859
1148 1148 c, g dbSNP:772442281
1153 1153 a, g dbSNP:748736063
1155 1155 a, g dbSNP:779114853
1158 1158 a, c dbSNP:769023011
1164 1164 c, t dbSNP:145649423
1166 1166 c, t dbSNP:369732238
1172 1172 -, cctgctcctgct dbSNP:776687260
1172 1172 c, t dbSNP:377310581
1182 1182 c, t dbSNP:141657385
1183 1183 -, cctgct dbSNP:771054711
1184 1184 c, g, t dbSNP:199584887
1185 1185 c, t dbSNP:1045933
1189 1189 -, ttctgc dbSNP:778093697
1193 1193 c, g dbSNP:199787351
1194 1194 -, ttctgc dbSNP:747175358
1194 1194 a, c dbSNP:751558047
1196 1196 c, t dbSNP:763972632
1204 1204 a, g dbSNP:376418772
1205 1205 a, g dbSNP:1045944
1219 1219 c, g dbSNP:752558297
1220 1220 -, t dbSNP:772211936
1221 1221 a, g dbSNP:3185964
1222 1222 a, t dbSNP:764974038
1225 1225 -, a dbSNP:748492948
1234 1234 g, t dbSNP:759317218
1236 1236 c, g dbSNP:779952369
1244 1244 c, t dbSNP:138515091
1245 1245 a, g dbSNP:143017094
1249 1249 a, g dbSNP:529970386
1251 1251 a, g dbSNP:149466797
1253 1253 c, t dbSNP:769048111
1255 1255 a, c dbSNP:749597554
1260 1260 a, g dbSNP:775890636
1263 1263 c, t dbSNP:3186041
1266 1266 c, g dbSNP:769997563
1267 1267 a, t dbSNP:746128300
1271 1271 a, t dbSNP:112311529
1291 1291 c, g dbSNP:538682035
1294 1294 -, a dbSNP:755542483
1297 1297 a, t dbSNP:757310587
1314 1314 c, g dbSNP:747087493
1319 1319 a, t dbSNP:777695987
1321 1321 a, c dbSNP:576081892
1322 1322 g, t dbSNP:368144792
1323 1323 c, t dbSNP:765167711
1325 1325 c, t dbSNP:374017840
1327 1327 c, t dbSNP:535829182
1330 1330 a, c, g, t dbSNP:567462672
1331 1331 a, g dbSNP:755714656
1332 1332 c, t dbSNP:764649212
1343 1343 a, g dbSNP:763517904
1344 1344 c, t dbSNP:775798921
1351 1351 c, t dbSNP:566951883
1357 1357 a, g dbSNP:770191886
1378 1378 -, g dbSNP:749872089

Target ORF information:

RefSeq Version NM_001130702
Organism Homo sapiens (human)
Definition Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 3, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001130702

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
ATGGTCAACG ACCCTCCAGT ACCTGCCTTA CTGTGGGCCC AGGAGGTGGG CCAAGTCTTG 
GCAGGCCGTG CCCGCAGGCT GCTGCTGCAG TTTGGGGTGC TCTTCTGCAC CATCCTCCTT
TTGCTCTGGG TGTCTGTCTT CCTCTATGGC TCCTTCTACT ATTCCTATAT GCCGACAGTC
AGCCACCTCA GCCCTGTGCA TTTCTACTAC AGGACCGACT GTGATTCCTC CACCACCTCA
CTCTGCTCCT TCCCTGTTGC CAATGTCTCG CTGACTAAGG GTGGACGTGA TCGGGTGCTG
ATGTATGGAC AGCCGTATCG TGTTACCTTA GAGCTTGAGC TGCCAGAGTC CCCTGTGAAT
CAAGATTTGG GCATGTTCTT GGTCACCATT TCCTGCTACA CCAGAGGTGG CCGAATCATC
TCCACTTCTT CGCGTTCGGT GATGCTGCAT TACCGCTCAG ACCTGCTCCA GATGCTGGAC
ACACTGGTCT TCTCTAGCCT CCTGCTATTT GGCTTTGCAG AGCAGAAGCA GCTGCTGGAG
GTGGAACTCT ACGCAGACTA TAGAGAGAAC TCGTACGTGC CGACCACTGG AGCGATCATT
GAGATCCACA GCAAGCGCAT CCAGCTGTAT GGAGCCTACC TCCGCATCCA CGCGCACTTC
ACTGGGCTCA GGTTAACATC CGAAAAAGAG ACAATTCCCG GAAGGAAGTC CAACGAAGGA
TCTCTGCTCA TCAGCCAGGG CCTGAAGGCC AGGAGGAGTC AACTCCGCAA TCAGATGTTA
CAGAGGATGG TGAGAGCCCT GAAGATCCCT CAGGGACAGA GGGTCAGCTG TCCGAGGAGG
AGAAACCAGA TCAGCAGCCC CTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.