CA14
carbonic anhydrase 14
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 XIV is predicted to be a type I membrane protein and shares highest sequence similarity with the other transmembrane CA isoform, CA XII; however, they have different patterns of tissue-specific expression and thus may play different physiologic roles. [provided by RefSeq, Jul 2008]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs140320147 | 1:150,230,578 | G/T | missense variant | — |
| rs144230649 | 1:150,232,552 | A/C | — | uncertain significance |
| rs1651030117 | 1:150,233,926 | G/A | — | likely benign |
| rs782011977 | 1:150,234,026 | A/G | — | uncertain significance |
| rs146764019 | 1:150,234,602 | G/A | — | uncertain significance |
| rs2524748818 | 1:150,234,605 | A/C | — | uncertain significance |
| rs1651100776 | 1:150,234,638 | G/T | — | uncertain significance |
| rs782538515 | 1:150,234,945 | T/C | — | uncertain significance |
| rs74126633 | 1:150,234,971 | G/A | — | benign |
| rs2524751666 | 1:150,234,997 | C/G | — | uncertain significance |
| rs1553848144 | 1:150,235,003 | T/C | — | uncertain significance |
| rs2524753289 | 1:150,235,225 | C/T | — | uncertain significance |
| rs782044514 | 1:150,235,236 | A/C | — | uncertain significance |
| rs142693414 | 1:150,235,510 | G/A | — | uncertain significance |
| rs782581132 | 1:150,235,593 | G/C | — | uncertain significance |
| rs369770952 | 1:150,235,792 | G/A | — | uncertain significance |
| rs1553848457 | 1:150,235,795 | T/C | — | likely benign |
| rs142572881 | 1:150,236,189 | C/T | — | likely benign |
| rs929744680 | 1:150,236,205 | G/C | — | uncertain significance |
| rs1347989282 | 1:150,236,213 | G/A | — | uncertain significance |
| rs375311747 | 1:150,236,263 | T/G | — | uncertain significance |
| rs183441903 | 1:150,236,264 | G/A | — | benign |
| rs1553848697 | 1:150,236,268 | G/A | — | uncertain significance |
| rs781853765 | 1:150,237,013 | G/A | — | uncertain significance |
| rs782054869 | 1:150,237,018 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.