Seroatlas · Human Serome Atlas

KCNQ5

Potassium voltage-gated channel subfamily KQT member 5

Also known as: KCNQ5_HUMAN, Kv7.5

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

Protein identityUniProt · HPA

UniProt accession: Q9NR82
Gene: KCNQ5
Ensembl: ENSG00000185760
Chromosome: 6
Canonical length: 932 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Voltage-gated ion channels
Subcellular location: Cytoplasmic bodies
Quaternary structure: Homotetramer

OverviewNCBI Gene

This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

Canonical amino-acid sequenceUniProt

932 residues, UniProt reviewed canonical sequence.

>Q9NR82|KCNQ5
     1  MPRHHAGGEE GGAAGLWVKS GAAAAAAGGG RLGSGMKDVE SGRGRVLLNS AAARGDGLLL
    61  LGTRAATLGG GGGGLRESRR GKQGARMSLL GKPLSYTSSQ SCRRNVKYRR VQNYLYNVLE
   121  RPRGWAFIYH AFVFLLVFGC LILSVFSTIP EHTKLASSCL LILEFVMIVV FGLEFIIRIW
   181  SAGCCCRYRG WQGRLRFARK PFCVIDTIVL IASIAVVSAK TQGNIFATSA LRSLRFLQIL
   241  RMVRMDRRGG TWKLLGSVVY AHSKELITAW YIGFLVLIFS SFLVYLVEKD ANKEFSTYAD
   301  ALWWGTITLT TIGYGDKTPL TWLGRLLSAG FALLGISFFA LPAGILGSGF ALKVQEQHRQ
   361  KHFEKRRNPA ANLIQCVWRS YAADEKSVSI ATWKPHLKAL HTCSPTKKEQ GEASSSQKLS
   421  FKERVRMASP RGQSIKSRQA SVGDRRSPST DITAEGSPTK VQKSWSFNDR TRFRPSLRLK
   481  SSQPKPVIDA DTALGTDDVY DEKGCQCDVS VEDLTPPLKT VIRAIRIMKF HVAKRKFKET
   541  LRPYDVKDVI EQYSAGHLDM LCRIKSLQTR VDQILGKGQI TSDKKSREKI TAEHETTDDL
   601  SMLGRVVKVE KQVQSIESKL DCLLDIYQQV LRKGSASALA LASFQIPPFE CEQTSDYQSP
   661  VDSKDLSGSA QNSGCLSRST SANISRGLQF ILTPNEFSAQ TFYALSPTMH SQATQVPISQ
   721  SDGSAVAATN TIANQINTAP KPAAPTTLQI PPPLPAIKHL PRPETLHPNP AGLQESISDV
   781  TTCLVASKEN VQVAQSNLTK DRSMRKSFDM GGETLLSVCP MVPKDLGKSL SVQNLIRSTE
   841  ELNIQLSGSE SSGSRGSQDF YPKWRESKLF ITDEEVGPEE TETDTFDAAP QPAREAAFAS
   901  DSLRTGRSRS SQSICKAGES TDALSLPHVK LK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KCNQ5 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): 0.57
Highest tissue expression: 15 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 15 nTPM
cerebral cortex: 13 nTPM
tongue: 11 nTPM
basal ganglia: 4.5 nTPM
thyroid gland: 4.1 nTPM
bone marrow: 4 nTPM

Single-cell type

myonuclei: 2,577 nCPM
brain inhibitory neurons: 1,756 nCPM
megakaryocyte-erythroid progenitors: 1,102 nCPM
brain excitatory neurons: 956 nCPM
neutrophil progenitors: 823 nCPM
thymic myoid cells: 742 nCPM

Immune cell

memory B-cell: 0.8 nTPM
NK-cell: 0.6 nTPM
memory CD8 T-cell: 0.3 nTPM
naive CD4 T-cell: 0.3 nTPM
MAIT T-cell: 0.2 nTPM
naive B-cell: 0.2 nTPM

Brain region

cerebral cortex: 109 nTPM
pons: 87 nTPM
white matter: 58 nTPM
basal ganglia: 55 nTPM
hippocampal formation: 44 nTPM
medulla oblongata: 41 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KCNQ5.

Disease | AllUniProt

Conditions KCNQ5 is implicated in, by any mechanism.

Intellectual developmental disorder, autosomal dominant 46 (MRD46) MIM:617601

Disease | GeneticClinVar

33 pathogenic / likely-pathogenic of 892 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability, autosomal dominant 46
Inborn genetic diseases
Global developmental delay

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): 0.31
gnomAD pLI: 0.98
gnomAD missense Z: 3.32
DepMap mean gene effect: -0.07
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

potassium ion transmembrane transport

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads KCNQ5 as an antibody target. Whether an autoantibody or antibody against KCNQ5 could matter depends on whether native KCNQ5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KCNQ5 is annotated at the cell surface, where native KCNQ5 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 KCNQ5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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