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Gene : CA4 Homo sapiens

Name  ? carbonic anhydrase 4 Cytological Location  17q23.1
Brief Description  carbonic anhydrase 4
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. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq, Jul 2008]
  • synonyms:
  • NM_000717,
  • OTTHUMG00000179987,
  • uc002iym.5,
  • CA4,
  • L10955,
  • Car4,
  • CAIV,
  • RP17,
  • retinitis pigmentosa 17 (autosomal dominant),
  • CAIV,
  • RP17,
  • carbonic anhydrase IV,
  • Car4,
  • HGNC:1375
  • identifiers:
  • 762,
  • ENSG00000167434,
  • CA4

Genome feature

Region: gene ? Length: 29080  
Location: 17:60149942-60179021 Cyto location: 17q23.1


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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

351 SN Ps

5 Cross References

19 Data Sets

15 Homologues

0 Located Features

97 Rna Seq Results