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
387035682024Seipin is involved in oxygen-glucose deprivation/reoxygenation induced neuroinflammation by regulating the TLR3/TRAF3/NF-κB pathway.0
387035682024Seipin is involved in oxygen-glucose deprivation/reoxygenation induced neuroinflammation by regulating the TLR3/TRAF3/NF-κB pathway.0
365393202023Pathogenic variants in three families with distal muscle involvement.0
378971342023Seipin overexpression attenuates cerebral ischemia-reperfusion injury via preventing apoptosis and autophagy.1
365393202023Pathogenic variants in three families with distal muscle involvement.0
378971342023Seipin overexpression attenuates cerebral ischemia-reperfusion injury via preventing apoptosis and autophagy.1
359222142022[Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese patients with Charcot-Marie-Tooth disease].0
364446432022A motor neuron disease-associated mutation produces non-glycosylated Seipin that induces ER stress and apoptosis by inactivating SERCA2b.1
359222142022[Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese patients with Charcot-Marie-Tooth disease].0
364446432022A motor neuron disease-associated mutation produces non-glycosylated Seipin that induces ER stress and apoptosis by inactivating SERCA2b.1
333150722021Nuclear lipid droplets form in the inner nuclear membrane in a seipin-independent manner.34
334817792021Seipin traps triacylglycerols to facilitate their nanoscale clustering in the endoplasmic reticulum membrane.36
336743872021Seipin accumulates and traps diacylglycerols and triglycerides in its ring-like structure.38
343239182021Retinyl esters form lipid droplets independently of triacylglycerol and seipin.12
333150722021Nuclear lipid droplets form in the inner nuclear membrane in a seipin-independent manner.34

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/img/js/lib/all.min.js