CA9
carbonic anhydrase 9
Summary
Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA IX is a transmembrane protein and is one of only two tumor-associated carbonic anhydrase isoenzymes known. It is expressed in all clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. [provided by RefSeq, Jun 2014]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2071676 | 9:35,674,053 | G/A | missense variant | — |
| rs12553173 | 9:35,674,101 | T/G | missense variant | — |
| rs143777802 | 9:35,674,140 | G/C | — | uncertain significance |
| rs759048994 | 9:35,674,164 | G/T | — | uncertain significance |
| rs371183397 | 9:35,674,167 | T/C | — | likely benign |
| rs773923872 | 9:35,674,200 | G/T | — | uncertain significance |
| rs750638464 | 9:35,674,242 | C/T | — | uncertain significance |
| rs201318433 | 9:35,674,258 | A/G | — | uncertain significance |
| rs181213293 | 9:35,674,298 | T/C | — | benign |
| rs2490652435 | 9:35,675,851 | C/T | — | uncertain significance |
| rs778853482 | 9:35,675,857 | G/T | — | uncertain significance |
| rs199516419 | 9:35,675,865 | G/A | — | uncertain significance |
| rs1308246836 | 9:35,676,073 | T/C | — | uncertain significance |
| rs762947489 | 9:35,676,117 | C/G | — | uncertain significance |
| rs749653973 | 9:35,676,144 | G/A | — | uncertain significance |
| rs768211018 | 9:35,676,166 | C/T | — | uncertain significance |
| rs753940556 | 9:35,676,331 | T/G | — | uncertain significance |
| rs183985235 | 9:35,677,780 | C/A | splice region variant | — |
| rs773530795 | 9:35,677,794 | C/T | — | uncertain significance |
| rs746857543 | 9:35,677,844 | G/A | — | likely benign |
| rs139927869 | 9:35,679,211 | A/G | — | likely benign |
| rs141822858 | 9:35,679,214 | T/A | — | uncertain significance |
| rs3829078 | 9:35,679,251 | A/G | missense variant | — |
| rs777908988 | 9:35,679,263 | C/T | — | uncertain significance |
| rs1407792341 | 9:35,679,317 | C/T | — | uncertain significance |
| rs565441140 | 9:35,679,915 | C/T | — | likely benign |
| rs575743710 | 9:35,679,918 | C/T | — | uncertain significance |
| rs2490659389 | 9:35,679,962 | G/A | — | uncertain significance |
| rs771989297 | 9:35,680,797 | G/A | — | likely benign |
| rs548055098 | 9:35,680,801 | C/T | — | uncertain significance |
| rs151268469 | 9:35,680,810 | T/C | — | uncertain significance |
| rs142538914 | 9:35,680,976 | G/C | — | uncertain significance |
| rs574695132 | 9:35,680,985 | G/A | — | uncertain significance |
| rs1048638 | 9:35,681,122 | C/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.