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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_032667 Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $549.00 14

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RefSeq Version NM_032667.6, 325910878
Length 1520 bp
Structure linear
Update Date 17-APR-2013
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(36)-dbSNP:
complement(36)-t, cdbSNP:117862461
complement(37)-t, gdbSNP:117597269
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
complement(247)-t, cdbSNP:11558433
complement(325)-c, adbSNP:147314661
complement(359)-g, adbSNP:142016433
complement(364)-t, cdbSNP:148132646
complement(371)-g, adbSNP:200922424
complement(395)-t, cdbSNP:199982733
complement(458)-dbSNP:
complement(458)-t, adbSNP:144774892
complement(474)-t, cdbSNP:149412531
complement(481)-g, adbSNP:137852972
complement(487)-t, cdbSNP:137852973
complement(492)-t, cdbSNP:137930278
complement(533)-dbSNP:
complement(533)-t, cdbSNP:145393127
complement(630)-t, cdbSNP:137852970
complement(641)-g, adbSNP:140208002
complement(650)-t, cdbSNP:138532996
complement(656)-t, g, cdbSNP:150158560
complement(771)-dbSNP:
complement(771)-t, cdbSNP:10776
complement(783)-t, gdbSNP:137852975
complement(788)-t, gdbSNP:200644629
complement(811)-dbSNP:
complement(811)-g, adbSNP:140896339
complement(849)-t, cdbSNP:151018278
complement(852)-g, cdbSNP:137852971
complement(862)-t, cdbSNP:142608646
complement(870)-t, cdbSNP:190842600
complement(871)-g, adbSNP:185341934
complement(921)-dbSNP:
complement(921)-t, cdbSNP:141377075
complement(965)-g, adbSNP:200300686
complement(1018)-t, cdbSNP:201229787
complement(1041)-dbSNP:
complement(1041)-t, cdbSNP: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(1163)-t, cdbSNP:6856
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(1324)-g, adbSNP:141657385
complement(1326)-g, adbSNP:199584887
complement(1327)-t, cdbSNP:1045933
complement(1335)-g, cdbSNP:199787351
complement(1347)-g, adbSNP:1045944
complement(1363)-t, cdbSNP:3185964
complement(1386)-g, adbSNP:138515091
complement(1387)-t, cdbSNP:143017094
complement(1393)-t, cdbSNP:149466797
complement(1405)-t, cdbSNP:3186041
complement(1413)-t, adbSNP:112311529
Gene SymbolBSCL2
Gene SynonymGNG3LG; HMN5; SPG17
Chromosome11
Locus Map11q13
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001122955 Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 1, mRNA. On-demand $699.00 18
NM_001130702 Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 3, mRNA. On-demand $449.00 14
NM_032667 Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 2, mRNA. On-demand $549.00 14
Title Seipin: from human disease to molecular mechanism .
Author Cartwright,B.R. and Goodman,J.M.
Journal J. Lipid Res. 53 (6), 1042-1055 (2012)
Title Overexpression of a short human seipin/BSCL2 isoform in mouse adipose tissue results in mild lipodystrophy .
Author Cui,X., Wang,Y., Meng,L., Fei,W., Deng,J., Xu,G., Peng,X., Ju,S., Zhang,L., Liu,G., Zhao,L. and Yang,H.
Journal Am. J. Physiol. Endocrinol. Metab. 302 (6), E705-E713 (2012)
Title Molecular characterization of seipin and its mutants: implications for seipin in triacylglycerol synthesis .
Author Fei,W., Li,H., Shui,G., Kapterian,T.S., Bielby,C., Du,X., Brown,A.J., Li,P., Wenk,M.R., Liu,P. and Yang,H.
Journal J. Lipid Res. 52 (12), 2136-2147 (2011)
Title N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress .
Author Yagi,T., Ito,D., Nihei,Y., Ishihara,T. and Suzuki,N.
Journal Hum. Mol. Genet. 20 (19), 3831-3840 (2011)
Title Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs .
Author Luigetti,M., Fabrizi,G.M., Madia,F., Ferrarini,M., Conte,A., Delgrande,A., Tonali,P.A. and Sabatelli,M.
Journal Muscle Nerve 42 (3), 448-451 (2010)
Title Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene .
Author Ebihara,K., Kusakabe,T., Masuzaki,H., Kobayashi,N., Tanaka,T., Chusho,H., Miyanaga,F., Miyazawa,T., Hayashi,T., Hosoda,K., Ogawa,Y. and Nakao,K.
Journal J. Clin. Endocrinol. Metab. 89 (5), 2360-2364 (2004)
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,J.A., Dierick,I., Verpoorten,N., Warner,T.T., Proukakis,C., Van den Bergh,P., Verellen,C., Van Maldergem,L., Merlini,L., De Jonghe,P., Timmerman,V., Crosby,A.H. 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,F.H., 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,J.J., Tric,P., Tubiana-Rufi,N., Vigouroux,C., Weissenbach,J., Savasta,S., Maassen,J.A., Trygstad,O., Bogalho,P., Freitas,P., Medina,J.L., Bonnicci,F., Joffe,B.I., Loyson,G., Panz,V.R., Raal,F.J., O'Rahilly,S., Stephenson,T., Kahn,C.R., 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,P.E., Warner,T.T., Houlston,R.S., Patton,M.A., Jeffery,S. and Crosby,A.H.
Journal Am. J. Hum. Genet. 69 (1), 209-215 (2001)


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