BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin)

2014-11-01  

Identity

HGNC
LOCATION
11q12.3
LOCUSID
ALIAS
GNG3LG,HMN5,HMN5C,PELD,SPG17
FUSION GENES

Other Information

Locus ID:

NCBI: 26580
MIM: 606158
HGNC: 15832
Ensembl: ENSG00000168000

Variants:

dbSNP: 26580
ClinVar: 26580
TCGA: ENSG00000168000
COSMIC: BSCL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168000ENST00000278893Q96G97
ENSG00000168000ENST00000301781H7BXM1
ENSG00000168000ENST00000360796Q96G97
ENSG00000168000ENST00000360796A0A024R540
ENSG00000168000ENST00000403098H7BYY0
ENSG00000168000ENST00000403550Q96G97
ENSG00000168000ENST00000403550A0A024R549
ENSG00000168000ENST00000405837J3KQ12
ENSG00000168000ENST00000407022Q96G97
ENSG00000168000ENST00000407022A0A024R549
ENSG00000168000ENST00000413908F8WER0
ENSG00000168000ENST00000421906Q96G97
ENSG00000168000ENST00000421906A0A024R549
ENSG00000168000ENST00000448568F8W7Q8
ENSG00000168000ENST00000449636H7C2D5
ENSG00000168000ENST00000464544E9PJK0
ENSG00000168000ENST00000524862E9PIU3
ENSG00000168000ENST00000525000H0YF20
ENSG00000168000ENST00000528874E9PPN5
ENSG00000168000ENST00000530009E9PJS9
ENSG00000168000ENST00000531524E9PR78
ENSG00000168000ENST00000532818E9PSB5
ENSG00000168000ENST00000533982E9PRU2

Expression (GTEx)

0
50
100
150
200
250
300

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
180939372007The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology.185
114795392001Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.161
182502012008Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast.148
149815202004Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.86
149815202004Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.86
184581482008The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation.61
278792842016Seipin regulates ER-lipid droplet contacts and cargo delivery.55
195744022009The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation.52
224740682012Seipin: from human disease to molecular mechanism.39
278062942016SEIPIN Regulates Lipid Droplet Expansion and Adipocyte Development by Modulating the Activity of Glycerol-3-phosphate Acyltransferase.39

Citation

Dessen P

BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60814/bscl2