QuickView for seipin (gene)

Gene Symbol:

BSCL2 Homo sapiens

Full name:

BSCL2, seipin lipid droplet biogenesis associated

Synonyms:

GNG3LG, HMN5, PELD, SPG17, seipin, Berardinelli-Seip congenital lipodystrophy 2 (seipin), Bernardinelli-Seip congenital lipodystrophy type 2 protein

Genomic Location:

Chr 11: 62214323-62231395

Description:

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 ...

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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).

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

P53_DECAMER_Q2 ,  TGANNYRGCA_TCF11MAFG_01 ,  CTTTGA_LEF1_Q2 ,  MYB_Q5_01 ,  TGAYRTCA_ATF3_Q6 ,  LEF1_Q2 ,  ACATTCC_MIR1_MIR206 ,  CAGGTA_AREB6_01 ,  P53_02 ,  CAGGTG_E12_Q6 ,  AP4_Q6 ,  GGGCGGR_SP1_Q6 ,  PTF1BETA_Q6 ,  MYB_Q6 ,  AP2REP_01 ,  CTGCAGY_UNKNOWN ,  CAGCTG_AP4_Q5 ,  TGACATY_UNKNOWN ,  MYB_Q3 ,  LBP1_Q6

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-1

Cytogenetic Map:

11q12.3

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