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Gene : AQP2 Homo sapiens

Name  ? aquaporin 2 Cytological Location  12q13.12
Brief Description  aquaporin 2
description  This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]
  • synonyms:
  • aquaporin 2 (collecting duct),
  • WCH-CD,
  • OTTHUMG00000169709,
  • NM_000486,
  • AQP2,
  • HGNC:634,
  • AQP-CD,
  • uc001rvn.4
  • identifiers:
  • 359,
  • ENSG00000167580,
  • AQP2

Genome feature

Region: gene ? Length: 8141  
Location: 12:49950741-49958881 Cyto location: 12q13.12


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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.

Gene --> GO terms.

Gene --> Overlapping genes.

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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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

11 SN Ps

5 Cross References

19 Data Sets

13 Homologues

0 Located Features

90 Rna Seq Results