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S100A2 – Colorectal Cancer

Recent multi‑omics studies have identified S100A2 as a potential player in colorectal cancer. In one study, integrated copy number aberration and gene expression analyses performed on 79 CRC cases (PMID:20706620) flagged S100A2 among a panel of candidates, while a separate large‐scale gene expression investigation in 49 distant recurrence cases (PMID:27935967) incorporated S100A2 into a prognostic five‑gene signature. These observations provide preliminary genetic evidence for an association, although no specific coding variants have been reported, and there is an absence of traditional familial segregation data.

Complementary functional studies have characterized several biochemical properties of S100A2 that may be relevant to oncogenic processes. For example, one study mapped the zinc‑binding ligands of S100A2 using site‑directed mutagenesis, revealing that ion‑induced conformational changes could influence function (PMID:10788426). Another investigation demonstrated that both native and mutant forms of S100A2 bind Ca2+ and Zn2+ with altered kinetics and cooperativity, suggesting a functional impact on protein interactions (PMID:9668057). While these functional data support a mechanistic role for S100A2 in cellular processes that might contribute to colorectal tumorigenesis, further genetic evidence is needed.

Key Take‑home sentence: Integration of omics data with functional assays indicates that S100A2 may serve as a useful biomarker for colorectal cancer, highlighting its potential clinical utility in risk stratification and therapeutic prognostication.

References

  • Cancer informatics • 2010 • Clinical omics analysis of colorectal cancer incorporating copy number aberrations and gene expression data PMID:20706620
  • PloS one • 2016 • Large‑Scale Analysis of Gene Expression Data Reveals a Novel Gene Expression Signature Associated with Colorectal Cancer Distant Recurrence PMID:27935967
  • The Journal of biological chemistry • 2000 • Mapping the zinc ligands of S100A2 by site‑directed mutagenesis PMID:10788426
  • The Journal of biological chemistry • 1998 • Binding of Ca2+ and Zn2+ to human nuclear S100A2 and mutant proteins PMID:9668057

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

Association supported by multi‑omics studies in CRC cohorts (79 cases [PMID:20706620] and a 5‑gene signature study [PMID:27935967]) without classic Mendelian segregation.

Genetic Evidence

Limited

No specific pathogenic HGVS variants have been reported; the association is derived from copy number and gene expression analyses.

Functional Evidence

Moderate

Multiple functional studies demonstrate that S100A2 exhibits metal ion binding with consequent conformational changes that may impact oncogenic processes ([PMID:10788426], [PMID:9668057]).