SORCS2: Sortilin Related VPS10 Domain Containing Receptor 2
A neuronal sorting receptor implicated in neuropsychiatric disorders and cancer
Gene Information Card
| Symbol | SORCS2 |
|---|---|
| Full Name | Sortilin Related VPS10 Domain Containing Receptor 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p16.1 |
| NCBI Gene ID | 57537 ncbi.nlm.nih.gov/gene/57537 |
| Ensembl ID | ENSG00000138684 |
| UniProt ID | Q96PQ0 |
| OMIM ID | 606283 |
| HGNC ID | 16697 |
| Aliases | KIAA1329, SORCS2, SORCS2A, SORCS2B |
Description
SORCS2 encodes a member of the VPS10 domain-containing receptor family, which functions in intracellular protein trafficking and signaling. The protein is predominantly expressed in the nervous system and is involved in neuronal development, synaptic plasticity, and neurotrophin signaling. Variants in SORCS2 have been associated with psychiatric disorders such as bipolar disorder and schizophrenia, as well as with certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bipolar disorder | Altered receptor trafficking affecting neuronal signaling | Association studies (PMID: 21428778) |
| Schizophrenia | Dysregulation of neurotrophin pathways | GWAS (PMID: 25056061) |
| Colorectal cancer | Aberrant expression promoting tumor growth | Expression profiling (COSMIC) |
| Glioblastoma | Potential role in cell survival and migration | Expression data (COSMIC) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 3.2 | Medium |
| Adrenal gland | 2.1 | Low |
| Lung | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.4 | Neuroblastoma cell line |
| HEK293 | 1.2 | Low expression |
| HCT116 | 4.7 | Colorectal carcinoma cell line |
| U87MG | 6.1 | Glioblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function |
| c.890A>G (p.Asn297Ser) | Missense | 0.02% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons and truncated protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • receptor activity (GO:0004872) | • intracellular protein transport (GO:0006886) |
| • axon guidance (GO:0007411) | • learning (GO:0007612) |
| • vesicle-mediated transport (GO:0016192) | • axon (GO:0030424) |
| • neuronal cell body (GO:0043025) | • synapse (GO:0045202) |
Pathways
• Neurotrophin signaling pathway (Reactome: R-HSA-166520)
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
Protein Summary
The SORCS2 protein is a type I transmembrane receptor with a VPS10 domain, involved in sorting and trafficking of ligands such as neurotrophins. It is highly expressed in the brain and plays roles in neuronal differentiation, survival, and synaptic function. Structural studies indicate it forms homodimers and interacts with other sorting receptors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SORCS2 Knockout HEK293 Cell Line | EDJ-KQ2810 | Human | 57537 | Details Get a Quote |
| SORCS2 Knockout A-549 Cell Line | EDJ-KQ23761 | Human | 57537 | Details Get a Quote |
| SORCS2 Knockout HeLa Cell Line | EDJ-KQ23762 | Human | 57537 | Details Get a Quote |
| SORCS2 Knockout HCT 116 Cell Line | EDJ-KQ73813 | Human | 57537 | Details Get a Quote |
