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    AQP12A aquaporin 12A [ Homo sapiens (human) ]

    Gene ID: 375318, updated on 2-Oct-2018

    Summary

    Official Symbol
    AQP12Aprovided by HGNC
    Official Full Name
    aquaporin 12Aprovided by HGNC
    Primary source
    HGNC:HGNC:19941
    See related
    Ensembl:ENSG00000184945 MIM:609789; Vega:OTTHUMG00000183906
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AQP12; AQPX2; AQP-12
    Expression
    Restricted expression toward pancreas (RPKM 48.8) See more
    Orthologs

    Genomic context

    See AQP12A in Genome Data Viewer
    Location:
    2q37.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (240691845..240698483)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (241631262..241637900)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene aquaporin 12B Neighboring gene uncharacterized LOC285191 Neighboring gene kinesin family member 1A Neighboring gene alanine--glyoxylate and serine--pyruvate aminotransferase

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    General gene information

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    water channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    water transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    aquaporin-12A
    Names
    aquaporin 12
    aquaporin X2

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_198998.2NP_945349.1  aquaporin-12A precursor

      See identical proteins and their annotated locations for NP_945349.1

      Status: VALIDATED

      Source sequence(s)
      AB040748, AC011298
      UniProtKB/Swiss-Prot
      Q8IXF9
      Related
      ENSP00000337144.4, OTTHUMP00000164503, ENST00000337801.8, OTTHUMT00000257185
      Conserved Domains (1) summary
      cl00200
      Location:77239
      MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      240691845..240698483
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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