Gene

CA12

Species
Homo sapiens
Symbol
CA12
Name
carbonic anhydrase 12
Synonyms
  • CA-XII
  • carbonate dehydratase XII
Biotype
protein coding gene
Automated Description
Predicted to enable carbonate dehydratase activity. Involved in chloride ion homeostasis. Predicted to be located in membrane. Predicted to be active in plasma membrane. Implicated in isolated hyperchlorhidrosis and lung non-small cell carcinoma. Biomarker of Lynch syndrome; gastrointestinal system cancer (multiple); and lung cancer.
RGD Description
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. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR18952
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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      Transgenic Alleles

      Species
      (carrying the transgene)
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          CA12 molecule type
          Interactor gene
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            Genetic Interactions

            CA12 role
            CA12 genetic perturbation
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