BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin)

2014-11-01  

Identity

HGNC
BSCL2
LOCATION
11q12.3
LOCUSID
26580
ALIAS
GNG3LG,HMN5,HMN5C,PELD,SPG17
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/meetings/deep-insight-explorer/humanGenome