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    AQP2 aquaporin 2 [ Homo sapiens (human) ]

    Gene ID: 359, updated on 5-Mar-2024

    Summary

    Official Symbol
    AQP2provided by HGNC
    Official Full Name
    aquaporin 2provided by HGNC
    Primary source
    HGNC:HGNC:634
    See related
    Ensembl:ENSG00000167580 MIM:107777; AllianceGenome:HGNC:634
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AQP2 in Genome Data Viewer
    Location:
    12q13.12
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (49950737..49958878)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (49913728..49921869)
    105.20220307 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 LOC124902930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50335615-50336600 Neighboring gene uncharacterized LOC105369763 Neighboring gene NANOG-H3K4me1 hESC enhancers GRCh37_chr12:50338782-50339658 and GRCh37_chr12:50339659-50340534 Neighboring gene AQP5 and AQP2 antisense RNA 2 Neighboring gene uncharacterized LOC105369764 Neighboring gene Sharpr-MPRA regulatory region 13914 Neighboring gene aquaporin 5 Neighboring gene aquaporin 6

    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

    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
     
    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 actin filament organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 transmembrane 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 water transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    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 
    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
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IMP
    Inferred from Mutant Phenotype
    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)

    NEW Try the new Transcript table

    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, Q9UD68
      UniProtKB/TrEMBL
      Q6FGT3
      Related
      ENSP00000199280.3, ENST00000199280.4
      Conserved Domains (1) summary
      pfam00230
      Location:3219
      MIP; Major intrinsic protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      49913728..49921869
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)