SMOC2

Chr 6

SPARC related modular calcium binding 2

Also known as: DTDP1, DTDP1A, MST117, MSTP117, MSTP140, SMAP2, bA270C4A.1, bA37D8.1

NCBI Gene: 64094 ENSG00000112562 UniProt: Q9H3U7

The protein is a matricellular protein that promotes matrix assembly and cell adhesiveness, and stimulates endothelial cell proliferation, migration, and angiogenesis. Biallelic mutations cause dentin dysplasia type IA, an autosomal recessive condition affecting tooth development. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.622), suggesting some tolerance to such mutations.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDentin dysplasia 1A

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.62

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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