SMOC2 Chromosome 6
SPARC related modular calcium binding 2
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What This Gene Does
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]
Gene Info
Gene Group
SPARC family
Locus Type
gene with protein product
Location
6q27
Ensembl
ENSG00000112562
Associated Conditions (3)
Familial cancer of breast
Ovarian serous cystadenocarcinoma
Dentin dysplasia type I
Key Variants
RS140807244
Conflicting classifications of pathogenicity
Familial cancer of breast, Ovarian serous cystadenocarcinoma, Familial cancer of breast
Health Risk
RS770992223
Likely pathogenic
Health Risk
RS2483030686
Pathogenic
Health Risk
RS786200927
Pathogenic
Dentin dysplasia type I, Dentin dysplasia type I
Health Risk
RS875989843
Pathogenic
Dentin dysplasia type I, Dentin dysplasia type I
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140807244 | Health Risk | Conflicting classifications of pathogenicity | Familial cancer of breast, Ovarian serous cystadenocarcinoma, Familial cancer of breast |
| RS770992223 | Health Risk | Likely pathogenic | — |
| RS2483030686 | Health Risk | Pathogenic | — |
| RS786200927 | Health Risk | Pathogenic | Dentin dysplasia type I, Dentin dysplasia type I |
| RS875989843 | Health Risk | Pathogenic | Dentin dysplasia type I, Dentin dysplasia type I |