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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. AQP2, aquaporin 2 (collecting duct)
Sequence ID:NM_000486
RefSeqGene ID:NG_008913
Entrez Gene ID:359
Ensembl ID:ENSG00000167580

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
DIABETES INSIPIDUS, NEPHROGENIC 

Cytogenetic Location (from UniGene)

Cytogenetic Location:12q12-q13Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:12: 50350410 - 50352662

NM_000486 exon info from UCSC:

Transcript StartTranscript EndChromosomal Start Chromosomal End
14505034452350344972
4516155034793750348101
6166965034841250348492
69741775034918150352661

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
5186409Full LengthBC042496aquaporin 2 (collecting duct)

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000477  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000486 NP_000477 P41181 MIP

Related Sequences

 
mRNAGenPeptSwissProt
S73197 AAB31998 P41181
S73196 AAB31999 P41181
BC042496 AAH42496 P41181
CR542024 CAG46821 Q6FGT3

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens AQP2 NP_000477 R.norvegicus Aqp2 25386   NP_037041 90
M.musculus Aqp2 11827 Gene Info NP_033829 89
A.thaliana TIP1;3 828051   NP_192056 40

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)