S100A16

Chr 1

S100 calcium binding protein A16

Also known as: AAG13, DT1P1A7, S100F

NCBI Gene: 140576ENSG00000188643UniProt: Q96FQ6OMIM: 617437

Enables calcium ion binding activity and protein homodimerization activity. Predicted to act upstream of or within response to calcium ion. Located in cytosol; nucleolus; and obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
22
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.89
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.89LOEUF
pLI 0.001
Z-score -0.31
OE 1.18 (0.55–1.89)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.51Z-score
OE missense 1.18 (0.98–1.43)
76 obs / 64.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.18 (0.55–1.89)
0≤0.351.4
Missense OE?1.18 (0.98–1.43)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 4 / 3.4Missense obs/exp: 76 / 64.4Syn Z: 0.20

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

S100A16 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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