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Gene : CA5A Homo sapiens

Name  ? carbonic anhydrase 5A Cytological Location  16q24.2
Brief Description  carbonic anhydrase 5A
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. They show extensive diversity in tissue distribution and in their subcellular localization. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008]
  • synonyms:
  • carbonic anhydrase VA, mitochondrial,
  • GS1-21A4.1,
  • CAV,
  • OTTHUMG00000137677,
  • HGNC:1377,
  • CA5,
  • L19297,
  • CAV,
  • NM_001739,
  • CA5A,
  • CAVA,
  • uc002fkn.2,
  • CAVA,
  • CA5AD,
  • CA5
  • identifiers:
  • 763,
  • ENSG00000174990,
  • CA5A

Genome feature

Region: gene ? Length: 55027  
Location: 16:87881549-87936575 reverse strand Cyto location: 16q24.2


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

976 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results