SNORC

Chr 2

secondary ossification center associated regulator of chondrocyte maturation

Also known as: ASCL830, C2orf82, UNQ830

NCBI Gene: 389084 ENSG00000182600 UniProt: Q6UX34

The protein regulates chondrocyte maturation and postnatal endochondral ossification, and may inhibit FGF2-induced cell growth stimulation. Mutations in SNORC cause skeletal dysplasia and the inheritance pattern has not been definitively established in the literature. The gene shows moderate constraint against loss-of-function variants, suggesting some intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

Predicted to be involved in cartilage development. Predicted to be located in several cellular components, including collagen-containing extracellular matrix; cytoplasm; and extracellular region. Predicted to be active in cell periphery. [provided by Alliance of Genome Resources, Apr 2025]

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)

—

P/LP submissions

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P/LP missense

1.02

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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