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BSCL2 lipid droplet biogenesis associated, seipin
Summary
- Gene Symbol
-
- BSCL2
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Congenital generalized lipodystrophy
- Diabetes mellitus
- Disease variant
- Endoplasmic reticulum
- Glycoprotein
- Hereditary spastic paraplegia
- Lipid degradation
- Lipid droplet
- Lipid metabolism
- Neuropathy
- Phosphoprotein
- Reference proteome
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A024R549 |
|
| Q96G97 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| lipid catabolic process | ||
| lipid storage | ||
| lipid storage | ||
| lipid droplet organization | ||
| lipid droplet organization |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum membrane | ||
| endoplasmic reticulum membrane | ||
| lipid droplet |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Seipin
- Functional Category
-
- E: Amino acid transport and metabolism
- Q: Secondary metabolites biosynthesis, transport and catabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| lipid droplet formation |
| lipid droplet organization |
| lipid metabolic process |
| lipid storage |
| InterPro |
|---|
| Seipin family |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0081401 | autosomal dominant distal hereditary motor neuronopathy 13 | |
| DOID:0110770 | hereditary spastic paraplegia 17 | |
| DOID:0111136 | congenital generalized lipodystrophy type 2 | |
| DOID:2476 | hereditary spastic paraplegia | |
| DOID:811 | lipodystrophy |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 101113634 | SHEEP11084 | ||
| 101151491 | GORGO03388 | ||
| 101614766 | JACJA07849 | ||
| 101687098 | MUSPF05815 | ||
| 101925325 | MACFA08747 | ||
| 101963059 | ICTTR05475 | ||
| 102011605 | CHILA25061 | ||
| 102184406 | CAPHI19374 | ||
| 102435803 | MYOLU16620 | ||
| 103233919 | CHLSB00298 |
