Identity
HGNC
LOCATION
11q12.3
LOCUSID
ALIAS
GNG3LG,HMN5,HMN5C,PELD,SPG17
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 26580
MIM: 606158
HGNC: 15832
Ensembl: ENSG00000168000
Variants:
dbSNP: 26580
ClinVar: 26580
TCGA: ENSG00000168000
COSMIC: BSCL2
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38703568 | 2024 | Seipin is involved in oxygen-glucose deprivation/reoxygenation induced neuroinflammation by regulating the TLR3/TRAF3/NF-κB pathway. | 0 |
| 38703568 | 2024 | Seipin is involved in oxygen-glucose deprivation/reoxygenation induced neuroinflammation by regulating the TLR3/TRAF3/NF-κB pathway. | 0 |
| 36539320 | 2023 | Pathogenic variants in three families with distal muscle involvement. | 0 |
| 37897134 | 2023 | Seipin overexpression attenuates cerebral ischemia-reperfusion injury via preventing apoptosis and autophagy. | 1 |
| 36539320 | 2023 | Pathogenic variants in three families with distal muscle involvement. | 0 |
| 37897134 | 2023 | Seipin overexpression attenuates cerebral ischemia-reperfusion injury via preventing apoptosis and autophagy. | 1 |
| 35922214 | 2022 | [Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese patients with Charcot-Marie-Tooth disease]. | 0 |
| 36444643 | 2022 | A motor neuron disease-associated mutation produces non-glycosylated Seipin that induces ER stress and apoptosis by inactivating SERCA2b. | 1 |
| 35922214 | 2022 | [Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese patients with Charcot-Marie-Tooth disease]. | 0 |
| 36444643 | 2022 | A motor neuron disease-associated mutation produces non-glycosylated Seipin that induces ER stress and apoptosis by inactivating SERCA2b. | 1 |
| 33315072 | 2021 | Nuclear lipid droplets form in the inner nuclear membrane in a seipin-independent manner. | 34 |
| 33481779 | 2021 | Seipin traps triacylglycerols to facilitate their nanoscale clustering in the endoplasmic reticulum membrane. | 36 |
| 33674387 | 2021 | Seipin accumulates and traps diacylglycerols and triglycerides in its ring-like structure. | 38 |
| 34323918 | 2021 | Retinyl esters form lipid droplets independently of triacylglycerol and seipin. | 12 |
| 33315072 | 2021 | Nuclear 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/bscl2-(bscl2-lipid-droplet-biogenesis-associated-seipin)
