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MGP000182

Record overview

MGPD IDMGP000182
Gene ID359
SpeciesHomo sapiens (Human)
Gene Nameaquaporin 2 (collecting duct)
Gene Symbol AQP2
SynonymsAQP-CD; WCH-CD;
Alternate namesaquaporin-2; AQP-2; aquaporin-CD; ADH water channel; water-channel aquaporin 2; collecting duct water channel protein; water channel protein for renal collecting duct;
Chromosome12
Map Location12q12-q13
SummaryThis 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]
OrthologsView orthologs and multiple alignments for AQP2

Proteins

aquaporin-2
Refseq ID:NP_000477
Protein GI:4502179
UniProt ID:P41181
mRNA ID:NM_000486
Length:271
RefSeq Status:
MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAG
AALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTPALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDD
HWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA
 
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