| Gene Information | |
|---|---|
| Gene Name | BSCL2 |
| Organism | Homo sapiens (Human) |
| Gene Length | 398 |
| Protein Names | Seipin (Bernardinelli-Seip congenital lipodystrophy type 2 protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 1488 ( ENSG00000168000 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | Q96G97 |
| Gene Card | BSCL2 |
| Uniprot ID | Q96G97 |
| Pfam | PF06775 |
| In ASD | no |
| Allosteric Prediction | no (-0.873279515) |
| Ortholog in Animals | Alpaca_ BSCL2 ( ortholog_one2one ) Dog_ BSCL2 ( ortholog_one2one ) GuineaPig_ BSCL2 ( ortholog_one2one ) Macaque_ BSCL2 ( ortholog_one2one ) Mouse_ Bscl2 ( ortholog_one2one ) Pig_ BSCL2 ( ortholog_one2one ) Rat_ Bscl2 ( ortholog_one2one ) Rabbit_ BSCL2 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in motor neurons in the spinal cord and cortical neurons in the frontal lobe (at protein level). Highly expressed in brain, testis and adipose tissue. {ECO:0000269|PubMed:11479539, ECO:0000269|PubMed:18458148, ECO:0000269|PubMed:18585921}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.033333(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 6DS5 (EM 3.80A ) |
| DBSNP | rs137852972 rs137852973 rs137852971 |
| Subcellular location [CC] | Endoplasmic reticulum membrane {ECO:0000269|PubMed:14981520, ECO:0000269|PubMed:16574104, ECO:0000269|PubMed:18458148, ECO:0000269|PubMed:27879284, ECO:0000269|PubMed:30901948, ECO:0000269|PubMed:31708432}; Multi-pass membrane protein {ECO:0000255}. Lipid droplet {ECO:0000269|PubMed:27879284, ECO:0000269|PubMed:30970241}. Note=Localizes at endoplasmic reticulum-lipid droplets (ER-LD) contact sites. {ECO:0000269|PubMed:27879284}. |
| Mouse PG classification | NA |
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