Seroatlas · Human Serome Atlas

TRPV4

Transient receptor potential cation channel subfamily V member 4

Also known as: CMT2C, OTRPC4, TRP12, TRPV4_HUMAN, VR-OAC, VRL-2, VROAC

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

Protein identityUniProt · HPA

UniProt accession
Q9HBA0
Gene
TRPV4
Ensembl
ENSG00000111199
Chromosome
12
Canonical length
871 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Voltage-gated ion channels
Quaternary structure
Homotetramer

OverviewNCBI Gene

This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]

Canonical amino-acid sequenceUniProt

871 residues, UniProt reviewed canonical sequence.

>Q9HBA0|TRPV4
     1  MADSSEGPRA GPGEVAELPG DESGTPGGEA FPLSSLANLF EGEDGSLSPS PADASRPAGP
    61  GDGRPNLRMK FQGAFRKGVP NPIDLLESTL YESSVVPGPK KAPMDSLFDY GTYRHHSSDN
   121  KRWRKKIIEK QPQSPKAPAP QPPPILKVFN RPILFDIVSR GSTADLDGLL PFLLTHKKRL
   181  TDEEFREPST GKTCLPKALL NLSNGRNDTI PVLLDIAERT GNMREFINSP FRDIYYRGQT
   241  ALHIAIERRC KHYVELLVAQ GADVHAQARG RFFQPKDEGG YFYFGELPLS LAACTNQPHI
   301  VNYLTENPHK KADMRRQDSR GNTVLHALVA IADNTRENTK FVTKMYDLLL LKCARLFPDS
   361  NLEAVLNNDG LSPLMMAAKT GKIGIFQHII RREVTDEDTR HLSRKFKDWA YGPVYSSLYD
   421  LSSLDTCGEE ASVLEILVYN SKIENRHEML AVEPINELLR DKWRKFGAVS FYINVVSYLC
   481  AMVIFTLTAY YQPLEGTPPY PYRTTVDYLR LAGEVITLFT GVLFFFTNIK DLFMKKCPGV
   541  NSLFIDGSFQ LLYFIYSVLV IVSAALYLAG IEAYLAVMVF ALVLGWMNAL YFTRGLKLTG
   601  TYSIMIQKIL FKDLFRFLLV YLLFMIGYAS ALVSLLNPCA NMKVCNEDQT NCTVPTYPSC
   661  RDSETFSTFL LDLFKLTIGM GDLEMLSSTK YPVVFIILLV TYIILTFVLL LNMLIALMGE
   721  TVGQVSKESK HIWKLQWATT ILDIERSFPV FLRKAFRSGE MVTVGKSSDG TPDRRWCFRV
   781  DEVNWSHWNQ NLGIINEDPG KNETYQYYGF SHTVGRLRRD RWSSVVPRVV ELNKNSNPDE
   841  VVVPLDSMGN PRCDGHQQGY PRKWRTDDAP L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TRPV4 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)
0.38
Highest tissue expression
70 nTPM

Expression across tissuesHPA

Tissue

  • choroid plexus: 70 nTPM
  • salivary gland: 18 nTPM
  • kidney: 13 nTPM
  • esophagus: 8.9 nTPM
  • liver: 7.7 nTPM
  • skin: 6.3 nTPM

Single-cell type

  • choroid plexus epithelial cells: 680 nCPM
  • esophageal apical cells: 208 nCPM
  • proximal tubule cells: 157 nCPM
  • renal connecting tubule cells: 134 nCPM
  • respiratory ciliated cells: 128 nCPM
  • kupffer cells: 112 nCPM

Immune cell

  • classical monocyte: 0.4 nTPM
  • basophil: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • choroid plexus: 108 nTPM
  • hippocampal formation: 8.7 nTPM
  • thalamus: 1.7 nTPM
  • cerebellum: 1.4 nTPM
  • cerebral cortex: 0.9 nTPM
  • medulla oblongata: 0.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TRPV4.

Disease | AllUniProt

Conditions TRPV4 is implicated in, by any mechanism.

  • Brachyolmia 3 (BCYM3) MIM:113500
  • Spondylometaphyseal dysplasia Kozlowski type (SMDK) MIM:184252
  • Metatropic dysplasia (MTD) MIM:156530
  • Neuronopathy, distal hereditary motor, autosomal dominant 8 (HMND8) MIM:600175
  • Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C (CMT2C) MIM:606071
  • Scapuloperoneal spinal muscular atrophy (SPSMA) MIM:181405
  • Spondyloepiphyseal dysplasia, Maroteaux type (SEDM) MIM:184095
  • Parastremmatic dwarfism (PSTD) MIM:168400
  • Digital arthropathy-brachydactyly, familial (FDAB) MIM:606835
  • Avascular necrosis of the femoral head, primary 2 (ANFH2) MIM:617383

Disease | GeneticClinVar

69 pathogenic / likely-pathogenic of 1,325 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)
1.06
gnomAD pLI
0
gnomAD missense Z
1.92
DepMap mean gene effect
-0.01
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 TRPV4 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 TRPV4 as an antibody target. Whether an autoantibody or antibody against TRPV4 could matter depends on whether native TRPV4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TRPV4 is annotated at the cell surface, where native TRPV4 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 TRPV4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TRPV4. 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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