S100A10

Chr 1

S100 calcium binding protein A10

Also known as: 42C, ANX2L, ANX2LG, CAL1L, CLP11, Ca[1], GP11, P11

NCBI Gene: 6281ENSG00000197747UniProt: P60903

The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in exocytosis and endocytosis. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
4
Active trials
105
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.66
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.66LOEUF
pLI 0.168
Z-score 0.81
OE 0.43 (0.15–1.66)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.68Z-score
OE missense 0.72 (0.55–0.96)
35 obs / 48.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.15–1.66)
0≤0.351.4
Missense OE?0.72 (0.55–0.96)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 1 / 2.3Missense obs/exp: 35 / 48.4Syn Z: -0.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

S100A10 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients