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AQP2

GENERAL INFORMATION

Gene name

 AQP2

Gene description

 Aquaporin 2 (collecting duct)

Protein class

 Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

 Membrane

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Group enriched (kidney, seminal vesicle)
GTEx:Tissue enriched (kidney)
FANTOM5:Group enriched (seminal vesicle, kidney)

Protein evidence

 Evidence at protein level

Protein expression

 Selective membranous expression in subsets of renal tubules.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 1 antibody.
HPA046834
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (kidney, seminal vesicle)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (kidney)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (seminal vesicle, kidney)

GENE INFORMATION

Gene name

 AQP2

Synonyms

Description

 Aquaporin 2 (collecting duct) (HGNC Symbol)

Entrez gene 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]

Chromosome

 12

Cytoband

 q13.12

Chromosome location (bp)

 49950741 - 49958881

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000167580 (version 83.38)

Entrez gene

 359

UniProt

 P41181 (UniProt - Evidence at protein level)

neXtProt

 NX_P41181

Antibodypedia

 AQP2 antibodies

PROTEIN BROWSER
AQP2-001
AQP2-004

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
AQP2-001
ENSP00000199280
ENST00000199280
P41181 [Direct mapping]
Aquaporin-2
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Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   7TM proteins predicted by MDM
Disease related genes
Potential drug targets
Show all
GO:0003091 [renal water homeostasis]
GO:0003097 [renal water transport]
GO:0005215 [transporter activity]
GO:0005372 [water transmembrane transporter activity]
GO:0005794 [Golgi apparatus]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006833 [water transport]
GO:0007588 [excretion]
GO:0009992 [cellular water homeostasis]
GO:0015168 [glycerol transmembrane transporter activity]
GO:0015250 [water channel activity]
GO:0015254 [glycerol channel activity]
GO:0015793 [glycerol transport]
GO:0016020 [membrane]
GO:0016323 [basolateral plasma membrane]
GO:0016324 [apical plasma membrane]
GO:0030658 [transport vesicle membrane]
GO:0031410 [cytoplasmic vesicle]
GO:0034220 [ion transmembrane transport]
GO:0042631 [cellular response to water deprivation]
GO:0055037 [recycling endosome]
GO:0055085 [transmembrane transport]
GO:0070062 [extracellular exosome]
GO:0071280 [cellular response to copper ion]
GO:0071288 [cellular response to mercury ion]
GO:0072205 [metanephric collecting duct development]
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 271 aa
28.8 kDa 		No 7
AQP2-004
ENSP00000450022
ENST00000550862
F8VPL3 [Direct mapping]
Aquaporin-2
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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   6TM proteins predicted by MDM
Show all
GO:0005215 [transporter activity]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0009992 [cellular water homeostasis]
GO:0015254 [glycerol channel activity]
GO:0015793 [glycerol transport]
GO:0016020 [membrane]
GO:0034220 [ion transmembrane transport]
Show all
 244 aa
26.1 kDa 		No 6

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.