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Gene : CA2 Homo sapiens

Name  ? carbonic anhydrase 2 Cytological Location  8q21.2
Brief Description  carbonic anhydrase 2
Description  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]
  • synonyms:
  • HEL-S-282,
  • CAII,
  • OTTHUMG00000164944,
  • HEL-76,
  • CAC,
  • Car2,
  • CA-II,
  • uc003ydk.3,
  • NM_000067,
  • CA2,
  • carbonic anhydrase II,
  • CA-II,
  • Car2,
  • J03037,
  • CAII,
  • HGNC:1373
  • identifiers:
  • 760,
  • ENSG00000104267,
  • CA2

Genome feature

Region: gene ? Length: 17592  
Location: 8:85463902-85481493 Cyto location: 8q21.2


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

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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

977 SN Ps

5 Cross References

20 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results