CA2 carbonic anhydrase 2
Gene ID: 760, updated on 17-Mar-2024Gene type: protein coding
Also known as: CAC; CAII; Car2; CA-II; HEL-76; HEL-S-282
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- Go to complete Gene record for CA2
- Go to Variation Viewer for CA2 variants
Summary
The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genome-wide association study identifies loci affecting blood copper, selenium and zinc. GeneReviews: Not available | |
Osteopetrosis with renal tubular acidosis | See labs |
Genomic context
- Location:
- 8q21.2
- Sequence:
- Chromosome: 8; NC_000008.11 (85464007..85481493)
- Total number of exons:
- 7
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for CA2 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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