SPOCK3

Chr 4

SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3

Also known as: HSAJ1454, TES-3, TICN3

NCBI Gene: 50859 ENSG00000196104 UniProt: Q9BQ16 OMIM: 607989

The protein encoded by this gene is a calcium-binding proteoglycan that inhibits matrix metalloproteinase processing and participates in neurogenesis. Mutations cause autosomal recessive intellectual disability with microcephaly, short stature, and facial dysmorphism. The gene shows moderate constraint against loss-of-function variants, suggesting some intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of a novel family of calcium-binding proteoglycan proteins that contain thyroglobulin type-1 and Kazal-like domains. The encoded protein and may play a role in adult T-cell leukemia by inhibiting the activity of membrane-type matrix metalloproteinases. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)