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Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 2, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu18196 Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu18196C Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 2, mRNA. Customized vector On-demand $269.00 7-9

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Data sheet
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
Restriction Sites Hind III- EcoR I
RefSeq Version NM_032667.6, 325910878
Length 1197 bp
Structure linear
Update Date 20-APR-2014
Organism Homo sapiens (human)
Definition Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 2, mRNA.
Product seipin isoform 2
Comment

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.

RefSeq NP_116056.3
CDS 219..1415
Misc Feature(1)111..113
Misc Feature(2)297..359
Misc Feature(3)297..359
Misc Feature(4)327..947
Misc Feature(5)945..1007
Misc Feature(6)<1008..1298
Exon (1)1..113
Gene:BSCL2
Gene Synonym:GNG3LG; HMN5; SPG17
Exon (2)114..430
Gene:BSCL2
Gene Synonym:GNG3LG; HMN5; SPG17
Exon (3)431..512
Gene:BSCL2
Gene Synonym:GNG3LG; HMN5; SPG17
Exon (4)513..656
Gene:BSCL2
Gene Synonym:GNG3LG; HMN5; SPG17
Exon (5)657..791
Gene:BSCL2
Gene Synonym:GNG3LG; HMN5; SPG17
Exon (6)792..889
Gene:BSCL2
Gene Synonym:GNG3LG; HMN5; SPG17
Exon (7)890..1031
Gene:BSCL2
Gene Synonym:GNG3LG; HMN5; SPG17
Exon (8)1032..1098
Gene:BSCL2
Gene Synonym:GNG3LG; HMN5; SPG17
Exon (9)1099..1179
Gene:BSCL2
Gene Synonym:GNG3LG; HMN5; SPG17
Exon (10)1180..1260
Gene:BSCL2
Gene Synonym:GNG3LG; HMN5; SPG17
Exon (11)1261..1520
Gene:BSCL2
Gene Synonym:GNG3LG; HMN5; SPG17
Translation MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTV SHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVN QDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQKQLLE VELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVA SNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEE STPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAALLTE ANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS
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Position Chain Variation Link
complement(31)-dbSNP:
complement(31)-g, cdbSNP:374089937
complement(36)-t, cdbSNP:117862461
complement(37)-t, gdbSNP:117597269
complement(46)-g, adbSNP:374173364
complement(72)-g, adbSNP:111363747
complement(86)-t, cdbSNP:112877243
complement(112)-t, cdbSNP:192881882
complement(150)-dbSNP:
complement(150)-g, adbSNP:201493373
complement(159)-g, adbSNP:3763853
complement(231)-g, adbSNP:140762669
247+c, tdbSNP:11558433
complement(325)-c, adbSNP:147314661
complement(359)-g, adbSNP:142016433
complement(364)-t, cdbSNP:148132646
complement(371)-g, adbSNP:200922424
complement(385)-t, cdbSNP:370905417
complement(395)-t, cdbSNP:199982733
complement(458)-dbSNP:
complement(458)-t, adbSNP:144774892
complement(467)-g, adbSNP:267603078
complement(474)-t, cdbSNP:149412531
481+a, gdbSNP:137852972
487+c, tdbSNP:137852973
complement(492)-t, cdbSNP:137930278
complement(523)-dbSNP:
complement(523)-t, cdbSNP:371113921
complement(533)-t, cdbSNP:145393127
complement(538)-c, adbSNP:377609967
complement(581)-t, adbSNP:374507554
complement(614)-g, adbSNP:369806785
630+c, tdbSNP:137852970
complement(641)-g, adbSNP:140208002
complement(650)-t, cdbSNP:138532996
complement(656)-t, g, cdbSNP:150158560
complement(725)-dbSNP:
complement(725)-t, cdbSNP:368353394
complement(771)-t, cdbSNP:10776
783+g, tdbSNP:137852975
complement(788)-t, gdbSNP:200644629
complement(811)-dbSNP:
complement(811)-g, adbSNP:140896339
complement(849)-t, cdbSNP:151018278
852+c, gdbSNP:137852971
complement(862)-t, cdbSNP:142608646
complement(870)-t, cdbSNP:190842600
complement(871)-g, adbSNP:185341934
complement(872)-t, cdbSNP:375554369
complement(887)-g, adbSNP:370926100
complement(921)-dbSNP:
complement(921)-t, cdbSNP:141377075
complement(965)-g, adbSNP:200300686
complement(981)-t, cdbSNP:369511412
complement(994)-c, adbSNP:367783346
complement(1018)-t, cdbSNP:201229787
1041+dbSNP:
1041+c, tdbSNP:137852974
complement(1043)-t, cdbSNP:147902831
complement(1048)-t, cdbSNP:144725547
complement(1057)-g, adbSNP:140676897
complement(1060)-t, cdbSNP:202072835
complement(1097)-t, c, adbSNP:113336810
complement(1126)-dbSNP:
complement(1126)-g, adbSNP:144245125
complement(1128)-t, gdbSNP:149990643
complement(1156)-t, cdbSNP:374170281
complement(1163)-t, cdbSNP:6856
complement(1164)-t, cdbSNP:368900617
complement(1169)-g, adbSNP:150914934
complement(1171)-g, adbSNP:149907021
complement(1193)-dbSNP:
complement(1193)-g, adbSNP:17850877
complement(1194)-t, cdbSNP:141518903
complement(1227)-t, cdbSNP:138964424
complement(1306)-dbSNP:
complement(1306)-g, adbSNP:145649423
complement(1308)-g, adbSNP:369732238
complement(1314)-g, adbSNP:377310581
complement(1324)-g, adbSNP:141657385
complement(1326)-g, c, adbSNP:199584887
1327+c, tdbSNP:1045933
complement(1335)-g, cdbSNP:199787351
complement(1346)-t, cdbSNP:376418772
1347+a, gdbSNP:1045944
complement(1363)-t, cdbSNP:386580628
1363+c, tdbSNP:3185964
complement(1386)-g, adbSNP:138515091
complement(1387)-t, cdbSNP:143017094
complement(1393)-t, cdbSNP:149466797
1405+c, tdbSNP:3186041
complement(1413)-t, adbSNP:112311529
complement(1464)-c, adbSNP:368144792
complement(1467)-g, adbSNP:374017840
Gene SymbolBSCL2
Gene SynonymGNG3LG; HMN5; SPG17
Chromosome11
Locus Map11q13
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001130702 Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 3, mRNA. On-demand $159.00 7-9
NM_032667 Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 2, mRNA. On-demand $219.00 7-9
NM_001122955 Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 1, mRNA. On-demand $219.00 7-9
Title Role of seipin in lipid droplet morphology and hepatitis C virus life cycle .
Author Clement S, Fauvelle C, Branche E, Kaddai V, Conzelmann S, Boldanova T, Bartosch B, Minehira K and Negro F.
Journal J. Gen. Virol. 94 (PT 10), 2208-2214 (2013)
Title A new seipin-associated neurodegenerative syndrome .
Author Guillen-Navarro E, Sanchez-Iglesias S, Domingo-Jimenez R, Victoria B, Ruiz-Riquelme A, Rabano A, Loidi L, Beiras A, Gonzalez-Mendez B, Ramos A, Lopez-Gonzalez V, Ballesta-Martinez MJ, Garrido-Pumar M, Aguiar P, Ruibal A, Requena JR and Araujo-Vilar D.
Journal J. Med. Genet. 50 (6), 401-409 (2013)
Title Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation .
Author Chaudhry R, Kidambi A, Brewer MH, Antonellis A, Mathews K, Nicholson G and Kennerson M.
Journal Muscle Nerve 47 (6), 922-924 (2013)
Title Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family .
Author Rahman OU, Khawar N, Khan MA, Ahmed J, Khattak K, Al-Aama JY, Naeem
Journal Diagn Pathol 8, 78 (2013)
Title Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome .
Author Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Horl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH and Wagner K.
Journal Nat. Genet. 36 (3), 271-276 (2004)
Title Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes .
Author Simha V and Garg A.
Journal J. Clin. Endocrinol. Metab. 88 (11), 5433-5437 (2003)
Title Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13 .
Author Magre J, Delepine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Megarbane A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O'Rahilly S, Stephenson T, Kahn CR, Lathrop M and Capeau J.
Journal Nat. Genet. 28 (4), 365-370 (2001)
Title The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype .
Author Patel H, Hart PE, Warner TT, Houlston RS, Patton MA, Jeffery S and Crosby AH.
Journal Am. J. Hum. Genet. 69 (1), 209-215 (2001)
Title BSCL2-Related Neurologic Disorders/Seipinopathy .
Author Ito,D.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Berardinelli-Seip Congenital Lipodystrophy .
Author Van Maldergem,L.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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