SORCS3
Sortilin Related VPS10 Domain Containing Receptor 3
Gene Information Card
| Symbol | SORCS3 |
|---|---|
| Full Name | Sortilin Related VPS10 Domain Containing Receptor 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q25.1 |
| NCBI Gene ID | 22986 ncbi.nlm.nih.gov/gene/22986 |
| Ensembl ID | ENSG00000156384 |
| UniProt ID | Q9UPU5 |
| OMIM ID | 617659 |
| HGNC ID | 16697 |
| Aliases | KIAA1059, SORCS |
Description
SORCS3 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 implicated in neuronal development, synaptic plasticity, and neurodegenerative disorders such as Alzheimer disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | Altered amyloid-beta clearance and synaptic dysfunction; SORCS3 variants may affect APP processing and tau pathology. | ClinVar, NCBI Gene |
| Neurodevelopmental disorders | Potential role in neuronal differentiation and migration; rare variants associated with intellectual disability. | OMIM, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 3.2 | Medium |
| Adrenal gland | 1.8 | Low |
| Lung | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.1 | Neuroblastoma cell line |
| HEK293 | 0.3 | Low expression |
| HepG2 | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | missense | <0.01% | Unknown functional effect; reported in Alzheimer disease cohort |
| c.567delG | frameshift | <0.001% | Predicted loss of function; associated with neurodevelopmental phenotype |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • receptor activity |
| • intracellular protein transport | • neuron projection development |
| • synaptic signaling |
Pathways
• VPS10 domain receptor signaling
• Amyloid-beta clearance
• Neurotrophin signaling
Protein Summary
The SORCS3 protein is a type I transmembrane receptor with a VPS10 domain, involved in endosomal trafficking and sorting of ligands such as neurotrophins and amyloid precursor protein. It is highly expressed in neurons and plays a role in synaptic function and plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SORCS3 Knockout HEK293 Cell Line | EDJ-KQ3723 | Human | 22986 | Details Get a Quote |
| SORCS3 Knockout HeLa Cell Line | EDJ-KQ55665 | Human | 22986 | Details Get a Quote |
| SORCS3 Knockout A-549 Cell Line | EDJ-KQ64164 | Human | 22986 | Details Get a Quote |
| SORCS3 Knockout HCT 116 Cell Line | EDJ-KQ72609 | Human | 22986 | Details Get a Quote |
