Seroatlas · Human Serome Atlas

AQP2

Aquaporin-2

Also known as: AQP2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P41181
Gene
AQP2
Ensembl
ENSG00000167580
Chromosome
12
Canonical length
271 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
Quaternary structure
Homotetramer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

271 residues, UniProt reviewed canonical sequence.

>P41181|AQP2
     1  MWELRSIAFS RAVFAEFLAT LLFVFFGLGS ALNWPQALPS VLQIAMAFGL GIGTLVQALG
    61  HISGAHINPA VTVACLVGCH VSVLRAAFYV AAQLLGAVAG AALLHEITPA DIRGDLAVNA
   121  LSNSTTAGQA VTVELFLTLQ LVLCIFASTD ERRGENPGTP ALSIGFSVAL GHLLGIHYTG
   181  CSMNPARSLA PAVVTGKFDD HWVFWIGPLV GAILGSLLYN YVLFPPAKSL SERLAVLKGL
   241  EPDTDWEERE VRRRQSVELH SPQSLPRGTK A

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AQP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
6
Mean surface accessibility (rSASA)
0.29
Highest tissue expression
450 nTPM

Expression across tissuesHPA

Tissue

  • kidney: 450 nTPM
  • seminal vesicle: 201 nTPM
  • adrenal gland: 2.8 nTPM
  • heart muscle: 1.4 nTPM
  • testis: 1.3 nTPM
  • prostate: 1.2 nTPM

Single-cell type

  • renal collecting duct principal cells: 1,013 nCPM
  • papillary tip epithelial cells: 187 nCPM
  • renal connecting tubule cells: 159 nCPM
  • loop of henle epithelial cells: 81 nCPM
  • renal collecting duct intercalated cells: 75 nCPM
  • proximal tubule cells: 23 nCPM

Immune cell

  • intermediate monocyte: 0.2 nTPM
  • non-classical monocyte: 0.2 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM

Brain region

  • hypothalamus: 0.1 nTPM
  • pons: 0.1 nTPM
  • amygdala: 0 nTPM
  • basal ganglia: 0 nTPM
  • cerebellum: 0 nTPM
  • cerebral cortex: 0 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AQP2.

Disease | AllUniProt

Conditions AQP2 is implicated in, by any mechanism.

  • Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) MIM:125800

Disease | GeneticClinVar

75 pathogenic / likely-pathogenic of 465 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.57
gnomAD pLI
0
gnomAD missense Z
1.06
DepMap mean gene effect
-0.07
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of AQP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads AQP2 as an antibody target. Whether an autoantibody or antibody against AQP2 could matter depends on whether native AQP2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AQP2 is annotated at the cell surface, where native AQP2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label AQP2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/AQP2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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