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AQP12A aquaporin 12A [ Homo sapiens (human) ]

Gene ID: 375318, updated on 5-Jan-2022

Summary

Official Symbol
AQP12Aprovided by HGNC
Official Full Name
aquaporin 12Aprovided by HGNC
Primary source
HGNC:HGNC:19941
See related
Ensembl:ENSG00000184945 MIM:609789
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
Summary
Predicted to enable channel activity. Predicted to be involved in transmembrane transport. Predicted to be integral component of membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Restricted expression toward pancreas (RPKM 48.8) See more
Orthologs
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Genomic context

See AQP12A in Genome Data Viewer
Location:
2q37.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (240691866..240698483)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (241631283..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 Apr 4 07:08:55 2018

Pathways from PubChem

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
aquaporin-12A
Names
aquaporin 12
aquaporin X2

NCBI Reference Sequences (RefSeq)

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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_198998.3NP_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, ENST00000337801.9
    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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    240691866..240698483
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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