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AQP8 aquaporin 8 [ Homo sapiens (human) ]

Gene ID: 343, updated on 13-Mar-2020

Summary

Official Symbol
AQP8provided by HGNC
Official Full Name
aquaporin 8provided by HGNC
Primary source
HGNC:HGNC:642
See related
Ensembl:ENSG00000103375 MIM:603750
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
AQP-8
Summary
Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward colon (RPKM 257.9) See more
Orthologs

Genomic context

See AQP8 in Genome Data Viewer
Location:
16p12.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (25216917..25228932)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (25228285..25240253)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene leucine carboxyl methyltransferase 1 Neighboring gene LCMT1 antisense RNA 2 Neighboring gene RNA, 7SL, cytoplasmic 557, pseudogene Neighboring gene zinc finger with KRAB and SCAN domains 2 Neighboring gene long intergenic non-protein coding RNA 2191

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

General gene information

Markers

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
cellular response to cAMP IEP
Inferred from Expression Pattern
more info
PubMed 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
water transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
apical part of cell IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

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_001169.3NP_001160.2  aquaporin-8

    See identical proteins and their annotated locations for NP_001160.2

    Status: REVIEWED

    Source sequence(s)
    AB013456, AC008741, BC040630
    Consensus CDS
    CCDS10626.1
    UniProtKB/Swiss-Prot
    O94778
    Related
    ENSP00000219660.5, ENST00000219660.6
    Conserved Domains (1) summary
    cl00200
    Location:38231
    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_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    25216917..25228932
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545823.2XP_011544125.1  aquaporin-8 isoform X2

    Conserved Domains (1) summary
    cl00200
    Location:40118
    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 ...
  2. XM_011545822.2XP_011544124.1  aquaporin-8 isoform X1

    See identical proteins and their annotated locations for XP_011544124.1

    Conserved Domains (1) summary
    cl00200
    Location:39232
    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 ...
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