SMOC2

Chr 6AR

SPARC related modular calcium binding 2

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

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]

OMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 0.621 OMIM phenotype
Clinical SummarySMOC2
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.62LOEUF
pLI 0.003
Z-score 3.00
OE 0.36 (0.210.62)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.64Z-score
OE missense 0.89 (0.810.99)
254 obs / 284.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.36 (0.210.62)
00.351.4
Missense OE?0.89 (0.810.99)
00.61.4
Synonymous OE?1.00
01.21.6
LoF obs/exp: 9 / 25.3Missense obs/exp: 254 / 284.5Syn Z: 0.03
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
strongSMOC2-related dentin dysplasia with microdontia and misshapen teethLOFAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.75top 25%
GOF
0.6834th %ile
LOF
0.2678th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SMOC2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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