AQP2 aquaporin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AQP2provided by HGNC
Official Full Name: aquaporin 2provided by HGNC
Primary source: HGNC:HGNC:634
See related: Ensembl:ENSG00000167580 MIM:107777; AllianceGenome:HGNC:634
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: NDI2; AQP-CD; WCH-CD
Summary: This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]
Expression: Restricted expression toward kidney (RPKM 245.3) See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.12

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (49950737..49958878)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (49913728..49921869)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (50344520..50352661)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Structural and functional analysis of aquaporin-2 mutants involved in nephrogenic diabetes insipidus.
Title: Structural and functional analysis of aquaporin-2 mutants involved in nephrogenic diabetes insipidus.
Dynamics and energetics of water transport through aquaporin mutants causing nephrogenic diabetes insipidus (NDI): A molecular dynamics study.
Title: Dynamics and energetics of water transport through aquaporin mutants causing nephrogenic diabetes insipidus (NDI): A molecular dynamics study.
Reduced urinary release of AQP1- and AQP2-bearing extracellular vesicles in patients with advanced chronic kidney disease.
Title: Reduced urinary release of AQP1- and AQP2-bearing extracellular vesicles in patients with advanced chronic kidney disease.
Investigation of the aquaporin-2 gating mechanism with molecular dynamics simulations.
Title: Investigation of the aquaporin-2 gating mechanism with molecular dynamics simulations.
Novel AQP2 Mutations and Clinical Characteristics in Seven Chinese Families With Congenital Nephrogenic Diabetes Insipidus.
Title: Novel AQP2 Mutations and Clinical Characteristics in Seven Chinese Families With Congenital Nephrogenic Diabetes Insipidus.
miR-34b-5p promotes renal cell inflammation and apoptosis by inhibiting aquaporin-2 in sepsis-induced acute kidney injury.
Title: miR-34b-5p promotes renal cell inflammation and apoptosis by inhibiting aquaporin-2 in sepsis-induced acute kidney injury.
Altered Iris Aquaporin Expression and Aqueous Humor Osmolality in Glaucoma.
Title: Altered Iris Aquaporin Expression and Aqueous Humor Osmolality in Glaucoma.
Seasonal rhythms of vasopressin release and aquaporin-2 excretion assure appropriate water conservation in humans.
Title: Seasonal rhythms of vasopressin release and aquaporin-2 excretion assure appropriate water conservation in humans.
AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.
Title: AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.
Differential expression and inhibitory effects of aquaporins on the development of adenomyosis.
Title: Differential expression and inhibitory effects of aquaporins on the development of adenomyosis.

Submit: New GeneRIF Correction See all GeneRIFs (124)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Diabetes insipidus, nephrogenic, autosomal MedGen: C1563706 OMIM: 125800 GeneReviews: Hereditary Nephrogenic Diabetes Insipidus	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of obsessive-compulsive disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables glycerol transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables water channel activity	EXP Inferred from Experiment more info	PubMed
enables water channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables water channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables water transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to copper ion	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to mercury ion	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to water deprivation	IEA Inferred from Electronic Annotation more info
involved_in glycerol transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in metanephric collecting duct development	IEA Inferred from Electronic Annotation more info
involved_in protein homotetramerization	IDA Inferred from Direct Assay more info	PubMed
involved_in renal water homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in renal water homeostasis	TAS Traceable Author Statement more info
involved_in renal water transport	IEA Inferred from Electronic Annotation more info
involved_in water transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in water transport	IDA Inferred from Direct Assay more info	PubMed
involved_in water transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in lumenal side of membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in recycling endosome	IEA Inferred from Electronic Annotation more info
located_in transport vesicle membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: aquaporin-2

Names: ADH water channel; AQP-2; aquaporin 2 (collecting duct); aquaporin-CD; collecting duct water channel protein; water channel protein for renal collecting duct; water-channel aquaporin 2

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.