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AQP2 aquaporin 2 [ Homo sapiens (human) ]

Gene ID: 359, updated on 17-Oct-2021

Summary

Official Symbol
AQP2provided by HGNC
Official Full Name
aquaporin 2provided by HGNC
Primary source
HGNC:HGNC:634
See related
Ensembl:ENSG00000167580 MIM:107777
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NDI2; AQP-CD; WCH-CD
Summary
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]
Expression
Restricted expression toward kidney (RPKM 245.3) See more
Orthologs
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Genomic context

See AQP2 in Genome Data Viewer
Location:
12q13.12
Exon count:
4
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (49950737..49958878)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (50344520..50352661)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2395 Neighboring gene uncharacterized LOC105369763 Neighboring gene AQP5 and AQP2 antisense RNA 2 Neighboring gene uncharacterized LOC105369764 Neighboring gene Sharpr-MPRA regulatory region 13914 Neighboring gene aquaporin 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC34501

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables glycerol transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables water channel activity EXP
Inferred from Experiment
more info
PubMed 
enables water channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables water channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables water transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular response to copper ion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to mercury ion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to water deprivation IEA
Inferred from Electronic Annotation
more info
 
involved_in glycerol transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in metanephric collecting duct development IEA
Inferred from Electronic Annotation
more info
 
involved_in protein homotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in renal water homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in renal water homeostasis TAS
Traceable Author Statement
more info
 
involved_in renal water transport IEA
Inferred from Electronic Annotation
more info
 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in water transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in water transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in water transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
is_active_in apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 
located_in extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in lumenal side of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in recycling endosome IEA
Inferred from Electronic Annotation
more info
 
located_in transport vesicle membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
aquaporin-2
Names
ADH water channel
AQP-2
aquaporin 2 (collecting duct)
aquaporin-CD
collecting duct water channel protein
water channel protein for renal collecting duct
water-channel aquaporin 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008913.1 RefSeqGene

    Range
    5001..13141
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_717

mRNA and Protein(s)

  1. NM_000486.6NP_000477.1  aquaporin-2

    See identical proteins and their annotated locations for NP_000477.1

    Status: REVIEWED

    Source sequence(s)
    AC025154, AI792401, AK225940, BC042496
    Consensus CDS
    CCDS8792.1
    UniProtKB/Swiss-Prot
    P41181
    Related
    ENSP00000199280.3, ENST00000199280.4
    Conserved Domains (1) summary
    pfam00230
    Location:3219
    MIP; Major intrinsic protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    49950737..49958878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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