SORCS2 Gene Summary [Human]
This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SORCS2 |
| Official Name | sortilin related VPS10 domain containing receptor 2 [Source:HGNC Symbol;Acc:HGNC:16698] |
| Ensembl ID | ENSG00000184985 |
| Bio databases IDs | |
| Aliases | sortilin related VPS10 domain containing receptor 2 |
| Synonyms | mKIAA1329, sortilin-related VPS10 domain containing receptor 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SORCS2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Sortilin, neurotensin receptor 3, C-terminal
- extracellular domain
- PKD domain
- Sortilin, neurotensin receptor 3,
- cytoplasmic domain
- VPS10 domain
- transmembrane domain
- proprotein convertase cleavage site
- Cadherin repeat-like domain
- protein binding
- Repeats in polycystic kidney disease 1 (PKD1) and other proteins
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- androgenic alopecia
- systemic lupus erythematosus
- idiopathic scoliosis
- hyperactive behavior
- acute myeloid leukemia
- age-related macular degeneration
- vascular dementia
- alcohol withdrawal syndrome
- Huntington disease
- hippocampal sclerosis of aging
regulates
- dopamine
role in cell
- apoptosis
- autophagy in
- collapse in
- collapse
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- intracellular membrane-bounded organelle
- cellular membrane
- vesicles
- cytosol
- endosomal membrane
- growth cone
- neurites
- filopodia
- perikaryon
- axons
- postsynaptic density
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SORCS2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuropeptide signaling pathway
- long term synaptic depression
- intracellular protein transport
Cellular Component
Where in the cell the gene product is active
- early endosome membrane
- intracellular membrane-bounded organelle
- dendritic spine
- membrane
- cytosol
- recycling endosome membrane
- perikaryon
Molecular Function
What the gene product does at the molecular level
- neuropeptide receptor activity