Seroatlas · Human Serome Atlas

KCNQ2

Potassium voltage-gated channel subfamily KQT member 2

Also known as: BFNC, EBN, EBN1, ENB1, HNSPC, KCNA11, KCNQ2_HUMAN, Kv7.2

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

Protein identityUniProt · HPA

UniProt accession
O43526
Gene
KCNQ2
Ensembl
ENSG00000075043
Chromosome
20
Canonical length
872 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters, Voltage-gated ion channels
Subcellular location
Endoplasmic reticulum

OverviewNCBI Gene

The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

872 residues, UniProt reviewed canonical sequence.

>O43526|KCNQ2
     1  MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR GSILSKPRAG
    61  GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF LLVFSCLVLS VFSTIKEYEK
   121  SSEGALYILE IVTIVVFGVE YFVRIWAAGC CCRYRGWRGR LKFARKPFCV IDIMVLIASI
   181  AVLAAGSQGN VFATSALRSL RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF
   241  LCLILASFLV YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI
   301  GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN LSRTDLHSTW
   361  QYYERTVTVP MYSSQTQTYG ASRLIPPLNQ LELLRNLKSK SGLAFRKDPP PEPSPSKGSP
   421  CRGPLCGCCP GRSSQKVSLK DRVFSSPRGV AAKGKGSPQA QTVRRSPSAD QSLEDSPSKV
   481  PKSWSFGDRS RARQAFRIKG AASRQNSEEA SLPGEDIVDD KSCPCEFVTE DLTPGLKVSI
   541  RAVCVMRFLV SKRKFKESLR PYDVMDVIEQ YSAGHLDMLS RIKSLQSRVD QIVGRGPAIT
   601  DKDRTKGPAE AELPEDPSMM GRLGKVEKQV LSMEKKLDFL VNIYMQRMGI PPTETEAYFG
   661  AKEPEPAPPY HSPEDSREHV DRHGCIVKIV RSSSSTGQKN FSAPPAAPPV QCPPSTSWQP
   721  QSHPRQGHGT SPVGDHGSLV RIPPPPAHER SLSAYGGGNR ASMEFLRQED TPGCRPPEGN
   781  LRDSDTSISI PSVDHEELER SFSGFSISQS KENLDALNSC YAAVAPCAKV RPYIAEGESD
   841  TDSDLCTPCG PPPRSATGEG PFGDVGWAGP RK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KCNQ2 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)
0.56
Highest tissue expression
136 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 136 nTPM
  • hippocampal formation: 94 nTPM
  • cerebral cortex: 94 nTPM
  • amygdala: 92 nTPM
  • basal ganglia: 72 nTPM
  • hypothalamus: 42 nTPM

Single-cell type

  • oligodendrocyte progenitor cells: 100 nCPM
  • brain excitatory neurons: 92 nCPM
  • brain inhibitory neurons: 79 nCPM
  • adrenal medulla cells: 75 nCPM
  • other brain neurons: 50 nCPM
  • undifferentiated spermatogonia: 33 nCPM

Immune cell

  • memory CD4 T-cell: 0.4 nTPM
  • T-reg: 0.2 nTPM
  • naive CD4 T-cell: 0.1 nTPM
  • naive CD8 T-cell: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM

Brain region

  • cerebral cortex: 353 nTPM
  • hippocampal formation: 316 nTPM
  • amygdala: 288 nTPM
  • cerebellum: 234 nTPM
  • basal ganglia: 231 nTPM
  • white matter: 196 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KCNQ2.

Disease | AllUniProt

Conditions KCNQ2 is implicated in, by any mechanism.

  • Seizures, benign familial neonatal 1 (BFNS1) MIM:121200
  • Developmental and epileptic encephalopathy 7 (DEE7) MIM:613720

Disease | GeneticClinVar

760 pathogenic / likely-pathogenic of 2,395 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)
0.16
gnomAD pLI
1
gnomAD missense Z
4.04
DepMap mean gene effect
0.05
DepMap dependency class
none

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KCNQ2 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 KCNQ2 as an antibody target. Whether an autoantibody or antibody against KCNQ2 could matter depends on whether native KCNQ2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KCNQ2 is annotated at the cell surface, where native KCNQ2 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 KCNQ2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/KCNQ2. 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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