AQP12A aquaporin 12A [Homo sapiens (human)] - Gene

Summary

Official Symbol: AQP12Aprovided by HGNC
Official Full Name: aquaporin 12Aprovided by HGNC
Primary source: HGNC:HGNC:19941
See related: Ensembl:ENSG00000184945 MIM:609789; AllianceGenome:HGNC:19941
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, Apr 2022]
Expression: Restricted expression toward pancreas (RPKM 48.8) See more
Orthologs: all
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Genomic context

Location:: 2q37.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (240691866..240698483)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (241187861..241195208)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (241631283..241637900)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic analysis of the aquaporin water channels AQP12A and AQP12B in patients with chronic pancreatitis.
Title: Genetic analysis of the aquaporin water channels AQP12A and AQP12B in patients with chronic pancreatitis.
Built accurate 3D-models for AQP11 and AQP12 and comprehensively compared their sequence and structure to other known aquaporins.
Title: In silico study of human aquaporin AQP11 and AQP12 channels.
a role of AQP12 in digestive enzyme secretion such as maturation and exocytosis of secretory granules
Title: Identification of a novel aquaporin, AQP12, expressed in pancreatic acinar cells.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables water channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in water 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
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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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)

NM_198998.3 → NP_945349.1 aquaporin-12A

See identical proteins and their annotated locations for NP_945349.1

Status: VALIDATED

Source sequence(s)

AB040748, AC011298

UniProtKB/Swiss-Prot

A4QPB9, A6NM10, Q8IXF9

Related

ENSP00000337144.4, ENST00000337801.9

Conserved Domains (1) summary

cl00200
Location:77 → 239

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 ...