S100A2

Chr 1

S100 calcium binding protein A2

Also known as: CAN19, S100L

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 have a tumor suppressor function. Chromosomal rearrangements and altered expression of this gene have been implicated in breast cancer. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
35
Pubs (1 yr)
P/LP submissions
P/LP missense
1.96
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.96LOEUF
pLI 0.000
Z-score -1.47
OE 2.00 (0.831.96)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.04Z-score
OE missense 0.98 (0.781.25)
49 obs / 49.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?2.00 (0.831.96)
00.351.4
Missense OE?0.98 (0.781.25)
00.61.4
Synonymous OE?1.12
01.21.6
LoF obs/exp: 5 / 2.5Missense obs/exp: 49 / 49.8Syn Z: -0.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

S100A2 · 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.

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