S100A11

Chr 1

S100 calcium binding protein A11

Also known as: HEL-S-43, MLN70, S100C

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 motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
71
Pubs (1 yr)
P/LP submissions
P/LP missense
1.80
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.80LOEUF
pLI 0.008
Z-score 0.22
OE 0.87 (0.381.80)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.31Z-score
OE missense 0.89 (0.711.12)
51 obs / 57.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.87 (0.381.80)
00.351.4
Missense OE?0.89 (0.711.12)
00.61.4
Synonymous OE?0.84
01.21.6
LoF obs/exp: 3 / 3.5Missense obs/exp: 51 / 57.6Syn Z: 0.58

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

S100A11 · 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 →