S100A9
S100 calcium binding protein A9
Summary
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 the inhibition of casein kinase and altered expression of this protein is associated with the disease cystic fibrosis. This antimicrobial protein exhibits antifungal and antibacterial activity. [provided by RefSeq, Nov 2014]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3014866 | 1:153,329,071 | T/C | upstream gene variant | — |
| rs759389626 | 1:153,330,763 | A/T | — | likely benign |
| rs757621072 | 1:153,330,788 | G/A | — | uncertain significance |
| rs781496198 | 1:153,330,791 | A/G | — | likely benign |
| rs370036652 | 1:153,330,864 | G/A | — | likely benign |
| rs140163350 | 1:153,333,115 | C/T | — | benign |
| rs190258899 | 1:153,333,176 | T/C | — | likely benign |
| rs772074088 | 1:153,333,204 | T/C | — | uncertain significance |
| rs752093810 | 1:153,333,257 | G/A | — | likely benign |
| rs143906646 | 1:153,333,264 | G/A | — | benign |
| rs1486674670 | 1:153,333,303 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.