SORCS2

Chr 4

sortilin related VPS10 domain containing receptor 2

NCBI Gene: 57537 ENSG00000184985 UniProt: Q96PQ0

The protein functions as a neurotrophin receptor that forms heterodimers with NGFR to bind precursor forms of NGF and BDNF, regulating dendritic spine density, neurite branching, and synaptic plasticity in the hippocampus. Mutations cause autosomal dominant or recessive neurodevelopmental disorders with intellectual disability, autism spectrum disorder, and epilepsy. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely not tolerated.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.43

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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