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AQP6 aquaporin 6 [ Homo sapiens (human) ]

Gene ID: 363, updated on 7-Jun-2020

Summary

Official Symbol
AQP6provided by HGNC
Official Full Name
aquaporin 6provided by HGNC
Primary source
HGNC:HGNC:639
See related
Ensembl:ENSG00000086159 MIM:601383
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

Genomic context

See AQP6 in Genome Data Viewer
Location:
12q13.12
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (49972947..49977139)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (50360874..50370922)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927318 Neighboring gene uncharacterized LOC105369764 Neighboring gene Sharpr-MPRA regulatory region 13914 Neighboring gene aquaporin 5 Neighboring gene uncharacterized LOC102723963 Neighboring gene Rac GTPase activating protein 1 Neighboring gene Sharpr-MPRA regulatory region 11175 Neighboring gene CRISPRi-validated cis-regulatory element chr12.1559

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
nitrate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
water channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
carbon dioxide transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
excretion TAS
Traceable Author Statement
more info
PubMed 
nitrate transport IEA
Inferred from Electronic Annotation
more info
 
odontogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
water transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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: Homo sapiens Updated Annotation Release 109.

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
    49972947..49977139
    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.
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