S100A4

Chr 1

S100 calcium binding protein A4

Also known as: 18A2, 42A, CAPL, FSP1, MTS1, P9KA, PEL98

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. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
1
Active trials
188
Pubs (1 yr)
P/LP submissions
P/LP missense
1.86
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?
1.86LOEUF
pLI 0.006
Z-score -0.04
OE 1.02 (0.441.86)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.36Z-score
OE missense 0.86 (0.681.10)
48 obs / 55.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.02 (0.441.86)
00.351.4
Missense OE?0.86 (0.681.10)
00.61.4
Synonymous OE?0.82
01.21.6
LoF obs/exp: 3 / 2.9Missense obs/exp: 48 / 55.7Syn Z: 0.70

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

S100A4 · protein map & ClinVar variants

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