S100A3

Chr 1

S100 calcium binding protein A3

Also known as: S100E

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 has the highest content of cysteines of all S100 proteins, has a high affinity for Zinc, and is highly expressed in human hair cuticle. The precise function of this protein is unknown. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
10
Pubs (1 yr)
P/LP submissions
P/LP missense
1.82
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.82LOEUF
pLI 0.008
Z-score 0.17
OE 0.90 (0.391.82)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.07Z-score
OE missense 1.03 (0.831.27)
61 obs / 59.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.90 (0.391.82)
00.351.4
Missense OE?1.03 (0.831.27)
00.61.4
Synonymous OE?0.88
01.21.6
LoF obs/exp: 3 / 3.3Missense obs/exp: 61 / 59.4Syn Z: 0.47

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

S100A3 · 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.

Search ClinicalTrials.gov →