AQP6
Aquaporin-6
Also known as: AQP2L, AQP6_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q13520
- Gene
- AQP6
- Ensembl
- ENSG00000086159
- Chromosome
- 12
- Canonical length
- 282 aa
- Protein class
- Metabolic proteins, Predicted membrane proteins, Transporters
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
282 residues, UniProt reviewed canonical sequence.
>Q13520|AQP6
1 MDAVEPGGRG WASMLACRLW KAISRALFAE FLATGLYVFF GVGSVMRWPT ALPSVLQIAI
61 TFNLVTAMAV QVTWKASGAH ANPAVTLAFL VGSHISLPRA VAYVAAQLVG ATVGAALLYG
121 VMPGDIRETL GINVVRNSVS TGQAVAVELL LTLQLVLCVF ASTDSRQTSG SPATMIGISV
181 ALGHLIGIHF TGCSMNPARS FGPAIIIGKF TVHWVFWVGP LMGALLASLI YNFVLFPDTK
241 TLAQRLAILT GTVEVGTGAG AGAEPLKKES QPGSGAVEME SVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against AQP6 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
- Intracellular
- Secreted
- No
- Transmembrane segments
- 6
- Mean surface accessibility (rSASA)
- 0.33
- Highest tissue expression
- 48 nTPM
Expression across tissuesHPA
Tissue
- kidney: 48 nTPM
- midbrain: 4.6 nTPM
- basal ganglia: 4 nTPM
- hippocampal formation: 3 nTPM
- amygdala: 2.2 nTPM
- hypothalamus: 2.1 nTPM
Single-cell type
- renal collecting duct intercalated cells: 275 nCPM
- epididymal clear cells: 80 nCPM
- respiratory basal cells: 11 nCPM
- astrocytes: 10 nCPM
- ocular epithelial cells: 6.8 nCPM
- respiratory secretory cells: 6.8 nCPM
Immune cell
- basophil: 0.1 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- thalamus: 11 nTPM
- cerebellum: 9.9 nTPM
- pons: 9.1 nTPM
- medulla oblongata: 8.5 nTPM
- midbrain: 7.7 nTPM
- basal ganglia: 6.7 nTPM
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)
- 1.09
- gnomAD pLI
- 0.02
- gnomAD missense Z
- 0.55
- DepMap mean gene effect
- -0.08
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- ammonium channel activity
- carbon dioxide transmembrane transporter activity
- monoatomic anion channel activity
- pH-gated chloride channel activity
- water channel activity
- nitrate transmembrane transporter activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads AQP6 as an antibody target. Whether an autoantibody or antibody against AQP6 could matter depends on whether native AQP6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
AQP6 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label AQP6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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