Seroatlas · Human Serome Atlas

KCNQ4

Potassium voltage-gated channel subfamily KQT member 4

Also known as: DFNA2, KCNQ4_HUMAN, Kv7.4

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

Protein identityUniProt · HPA

UniProt accession
P56696
Gene
KCNQ4
Ensembl
ENSG00000117013
Chromosome
1
Canonical length
695 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters, Voltage-gated ion channels
Quaternary structure
Homotetramer

OverviewNCBI Gene

The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

695 residues, UniProt reviewed canonical sequence.

>P56696|KCNQ4
     1  MAEAPPRRLG LGPPPGDAPR AELVALTAVQ SEQGEAGGGG SPRRLGLLGS PLPPGAPLPG
    61  PGSGSGSACG QRSSAAHKRY RRLQNWVYNV LERPRGWAFV YHVFIFLLVF SCLVLSVLST
   121  IQEHQELANE CLLILEFVMI VVFGLEYIVR VWSAGCCCRY RGWQGRFRFA RKPFCVIDFI
   181  VFVASVAVIA AGTQGNIFAT SALRSMRFLQ ILRMVRMDRR GGTWKLLGSV VYAHSKELIT
   241  AWYIGFLVLI FASFLVYLAE KDANSDFSSY ADSLWWGTIT LTTIGYGDKT PHTWLGRVLA
   301  AGFALLGISF FALPAGILGS GFALKVQEQH RQKHFEKRRM PAANLIQAAW RLYSTDMSRA
   361  YLTATWYYYD SILPSFRELA LLFEHVQRAR NGGLRPLEVR RAPVPDGAPS RYPPVATCHR
   421  PGSTSFCPGE SSRMGIKDRI RMGSSQRRTG PSKQHLAPPT MPTSPSSEQV GEATSPTKVQ
   481  KSWSFNDRTR FRASLRLKPR TSAEDAPSEE VAEEKSYQCE LTVDDIMPAV KTVIRSIRIL
   541  KFLVAKRKFK ETLRPYDVKD VIEQYSAGHL DMLGRIKSLQ TRVDQIVGRG PGDRKAREKG
   601  DKGPSDAEVV DEISMMGRVV KVEKQVQSIE HKLDLLLGFY SRCLRSGTSA SLGAVQVPLF
   661  DPDITSDYHS PVDHEDISVS AQTLSISRSV STNMD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KCNQ4 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)
0.51
Highest tissue expression
3.7 nTPM

Expression across tissuesHPA

Tissue

  • colon: 3.7 nTPM
  • blood vessel: 3 nTPM
  • skeletal muscle: 2.6 nTPM
  • endometrium: 2 nTPM
  • fallopian tube: 1.8 nTPM
  • urinary bladder: 1.8 nTPM

Single-cell type

  • retinal pigment epithelial cells: 98 nCPM
  • tuft cells: 81 nCPM
  • choroid plexus epithelial cells: 31 nCPM
  • myonuclei: 31 nCPM
  • pituitary stem cells: 22 nCPM
  • vascular smooth muscle cells: 15 nCPM

Immune cell

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

Brain region

  • midbrain: 14 nTPM
  • choroid plexus: 8.9 nTPM
  • white matter: 7.8 nTPM
  • cerebral cortex: 7.1 nTPM
  • spinal cord: 5.6 nTPM
  • basal ganglia: 5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KCNQ4.

Disease | AllUniProt

Conditions KCNQ4 is implicated in, by any mechanism.

  • Deafness, autosomal dominant, 2A (DFNA2A) MIM:600101

Disease | GeneticClinVar

56 pathogenic / likely-pathogenic of 527 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)
0.41
gnomAD pLI
0.47
gnomAD missense Z
2.17
DepMap mean gene effect
-0.11
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 KCNQ4 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 KCNQ4 as an antibody target. Whether an autoantibody or antibody against KCNQ4 could matter depends on whether native KCNQ4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KCNQ4 is annotated at the cell surface, where native KCNQ4 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 KCNQ4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/KCNQ4. 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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