S100A6

Chr 1

S100 calcium binding protein A6

Also known as: 2A9, 5B10, CABP, CACY, PRA, S10A6

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 stimulation of Ca2+-dependent insulin release, stimulation of prolactin secretion, and exocytosis. Chromosomal rearrangements and altered expression of this gene have been implicated in melanoma. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
62
Pubs (1 yr)
P/LP submissions
P/LP missense
1.64
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?
1.64LOEUF
pLI 0.176
Z-score 0.85
OE 0.41 (0.141.64)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.25Z-score
OE missense 0.90 (0.701.16)
43 obs / 47.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.41 (0.141.64)
00.351.4
Missense OE?0.90 (0.701.16)
00.61.4
Synonymous OE?0.75
01.21.6
LoF obs/exp: 1 / 2.4Missense obs/exp: 43 / 47.8Syn Z: 0.91

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

S100A6 · 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 →