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CA2

CA2

The information on this page was automatically extracted from online scientific databases.

What is the official name of the CA2 gene?

The official name of this gene is “carbonic anhydrase II.”

CA2 is the gene's official symbol. The CA2 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the CA2 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

CA2 is one of several (at least 7) isozymes of carbonic anhydrase. Carbonic anhydrase catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. [provided by RefSeq, Jul 2008]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Essential for bone resorption and osteoclast differentiation (By similarity). Reversible hydration of carbon dioxide. Can hydrate cyanamide to urea. Involved in the regulation of fluid secretion into the anterior chamber of the eye. Contributes to intracellular pH regulation in the duodenal upper villous epithelium during proton-coupled peptide absorption. Stimulates the chloride-bicarbonate exchange activity of SLC26A6.

How are changes in the CA2 gene related to health conditions?

Genetics Home Reference provides information about osteopetrosis, which is associated with changes in the CA2 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the CA2 gene's known or predicted involvement in human disease.

Osteopetrosis, autosomal recessive 3 (OPTB3): A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB3 is associated with renal tubular acidosis, cerebral calcification (marble brain disease) and in some cases with mental retardation.[1]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the CA2 gene.
  • Osteopetrosis with renal tubular acidosis[1]This link leads to a site outside Genetics Home Reference.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]

Where is the CA2 gene located?

Cytogenetic Location: 8q22

Molecular Location on chromosome 8: base pairs 85,463,901 to 85,481,491

The CA2 gene is located on the long (q) arm of chromosome 8 at position 22.

The CA2 gene is located on the long (q) arm of chromosome 8 at position 22.

More precisely, the CA2 gene is located from base pair 85,463,901 to base pair 85,481,491 on chromosome 8.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about CA2?

You and your healthcare professional may find the following resources about CA2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CA2 gene or gene products?

  • CAC
  • CAII
  • CA-II
  • Car2
  • HEL-76

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding CA2?

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: April 17, 2014