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    AQP6 aquaporin 6 [ Homo sapiens (human) ]

    Gene ID: 363, updated on 17-Sep-2024

    Summary

    Official Symbol
    AQP6provided by HGNC
    Official Full Name
    aquaporin 6provided by HGNC
    Primary source
    HGNC:HGNC:639
    See related
    Ensembl:ENSG00000086159 MIM:601383; AllianceGenome:HGNC:639
    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
    KID; AQP2L
    Summary
    The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in kidney (RPKM 15.5), brain (RPKM 1.4) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    See AQP6 in Genome Data Viewer
    Location:
    12q13.12
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (49972947..49977139)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (49935958..49940150)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (50366730..50370922)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene AQP5 and AQP2 antisense RNA 2 Neighboring gene uncharacterized LOC105369764 Neighboring gene aquaporin 2 Neighboring gene Sharpr-MPRA regulatory region 13914 Neighboring gene aquaporin 5 Neighboring gene Rac GTPase activating protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6338 Neighboring gene Sharpr-MPRA regulatory region 11175 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50433443-50434198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50434199-50434954 Neighboring gene CRISPRi-validated cis-regulatory element chr12.1559 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:50444767-50445695 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4445 Neighboring gene acid sensing ion channel subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6341 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:50474871-50475040

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nitrate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables water channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables water channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in carbon dioxide transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in nitrate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in odontogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in renal water transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in water transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    aquaporin-6
    Names
    AQP-6
    aquaporin 2-like, kidney specific
    aquaporin-6, kidney specific
    hKID
    kidney-specific aquaporin

    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.

    mRNA and Protein(s)

    1. NM_001652.4NP_001643.2  aquaporin-6

      See identical proteins and their annotated locations for NP_001643.2

      Status: REVIEWED

      Source sequence(s)
      AC025154, U48408
      Consensus CDS
      CCDS31798.1
      UniProtKB/Swiss-Prot
      Q13520
      Related
      ENSP00000320247.5, ENST00000315520.10
      Conserved Domains (1) summary
      cl00200
      Location:25231
      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: GCF_000001405.40-RS_2024_08

    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
      49972947..49977139
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      49935958..49940150
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_053286.1: Suppressed sequence

      Description
      NM_053286.1: This RefSeq was permanently suppressed because it is an NMD candidate.