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Gene : CA8 Homo sapiens

Name  ? carbonic anhydrase 8 Cytological Location  8q12.1
Brief Description  carbonic anhydrase 8
Description  The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. Mutations in this gene are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3). Polymorphisms in this gene are associated with osteoporosis, and overexpression of this gene in osteosarcoma cells suggests an oncogenic role. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
  • synonyms:
  • L04656,
  • CALS,
  • carbonic anhydrase VIII,
  • CAMRQ3,
  • OTTHUMG00000165325,
  • CA-RP,
  • CA8,
  • CA-VIII,
  • uc003xtz.2,
  • HGNC:1382,
  • NM_001321837,
  • CARP,
  • CARP,
  • CALS
  • identifiers:
  • 767,
  • ENSG00000178538,
  • CA8

Genome feature

Region: gene ? Length: 95989  
Location: 8:60185412-60281400 reverse strand Cyto location: 8q12.1


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1 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Proteins

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SNPs

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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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Expression

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Other

1 Pathways

3756 SN Ps

5 Cross References

20 Data Sets

17 Homologues

0 Located Features

97 Rna Seq Results