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Aliases for KCNQ4 Gene

Aliases for KCNQ4 Gene

  • Potassium Channel, Voltage Gated KQT-Like Subfamily Q, Member 4 2 3
  • Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member 4 2 3
  • Potassium Channel Subunit Alpha KvLQT4 3 4
  • DFNA2A 3 6
  • Potassium Voltage-Gated Channel Subfamily KQT Member 4 3
  • Voltage-Gated Potassium Channel Subunit Kv7.4 4
  • Potassium Channel KQT-Like 4 3
  • KQT-Like 4 4
  • DFNA2 3
  • KV7.4 3

External Ids for KCNQ4 Gene

Previous HGNC Symbols for KCNQ4 Gene

  • DFNA2

Previous GeneCards Identifiers for KCNQ4 Gene

  • GC01P041284
  • GC01P040253
  • GC01P040713
  • GC01P040662
  • GC01P040918
  • GC01P041022
  • GC01P041249
  • GC01P039389

Summaries for KCNQ4 Gene

Entrez Gene Summary for KCNQ4 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]

GeneCards Summary for KCNQ4 Gene

KCNQ4 (Potassium Channel, Voltage Gated KQT-Like Subfamily Q, Member 4) is a Protein Coding gene. Diseases associated with KCNQ4 include deafness, autosomal dominant 2a and dfna2 nonsyndromic hearing loss. Among its related pathways are Transmission across Chemical Synapses and Circadian entrainment. GO annotations related to this gene include delayed rectifier potassium channel activity and potassium channel activity. An important paralog of this gene is KCNQ3.

UniProtKB/Swiss-Prot for KCNQ4 Gene

  • Probably important in the regulation of neuronal excitability. May underlie a potassium current involved in regulating the excitability of sensory cells of the cochlea. KCNQ4 channels are blocked by linopirdin, XE991 and bepridil, whereas clofilium is without significant effect. Muscarinic agonist oxotremorine-M strongly suppress KCNQ4 current in CHO cells in which cloned KCNQ4 channels were coexpressed with M1 muscarinic receptors

Gene Wiki entry for KCNQ4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNQ4 Gene

Genomics for KCNQ4 Gene

Regulatory Elements for KCNQ4 Gene

Genomic Location for KCNQ4 Gene

Start:
40,784,012 bp from pter
End:
40,840,452 bp from pter
Size:
56,441 bases
Orientation:
Plus strand

Genomic View for KCNQ4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNQ4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNQ4 Gene

Proteins for KCNQ4 Gene

  • Protein details for KCNQ4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56696-KCNQ4_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily KQT member 4
    Protein Accession:
    P56696
    Secondary Accessions:
    • O96025

    Protein attributes for KCNQ4 Gene

    Size:
    695 amino acids
    Molecular mass:
    77101 Da
    Quaternary structure:
    • Homotetramer. May form heteromultimers with KCNQ3.
    Miscellaneous:
    • Mutagenesis experiments were carried out by expressing in Xenopus oocytes KCNQ4 mutants either individually (homomultimers) or in combination with wild-type KCNQ4 (mut/wt homomultimers) in a ratio of 1:1, to mimic the situation in a heterozygous DFNA2 patient

    Three dimensional structures from OCA and Proteopedia for KCNQ4 Gene

    Alternative splice isoforms for KCNQ4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNQ4 Gene

Proteomics data for KCNQ4 Gene at MOPED

Post-translational modifications for KCNQ4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNQ4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNQ4 Gene

Domains for KCNQ4 Gene

Gene Families for KCNQ4 Gene

HGNC:
  • KCN :Potassium channels
  • Kv :Voltage-gated ion channels / Potassium channels
IUPHAR :

Suggested Antigen Peptide Sequences for KCNQ4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P56696

UniProtKB/Swiss-Prot:

KCNQ4_HUMAN :
  • P56696
Domain:
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
  • The A-domain tail carries the major determinants of channel assembly specificity. Its coiled-coil region is Four-stranded.
Family:
  • Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.4/KCNQ4 sub-subfamily.
genes like me logo Genes that share domains with KCNQ4: view

Function for KCNQ4 Gene

Molecular function for KCNQ4 Gene

GENATLAS Biochemistry: potassium voltage-gated channel,KQT subfamily,member 4,expressed in sensory outer hair cells
UniProtKB/Swiss-Prot Function: Probably important in the regulation of neuronal excitability. May underlie a potassium current involved in regulating the excitability of sensory cells of the cochlea. KCNQ4 channels are blocked by linopirdin, XE991 and bepridil, whereas clofilium is without significant effect. Muscarinic agonist oxotremorine-M strongly suppress KCNQ4 current in CHO cells in which cloned KCNQ4 channels were coexpressed with M1 muscarinic receptors

Gene Ontology (GO) - Molecular Function for KCNQ4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005249 voltage-gated potassium channel activity --
GO:0005251 delayed rectifier potassium channel activity IBA --
GO:0005267 potassium channel activity TAS 10025409
genes like me logo Genes that share ontologies with KCNQ4: view
genes like me logo Genes that share phenotypes with KCNQ4: view

Animal Models for KCNQ4 Gene

MGI Knock Outs for KCNQ4:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for KCNQ4 Gene

Localization for KCNQ4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNQ4 Gene

Basal cell membrane; Multi-pass membrane protein. Note=Situated at the basal membrane of cochlear outer hair cells. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNQ4 Gene COMPARTMENTS Subcellular localization image for KCNQ4 gene
Compartment Confidence
plasma membrane 5
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KCNQ4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex IEA --
GO:0009925 basal plasma membrane IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane IBA --
genes like me logo Genes that share ontologies with KCNQ4: view

Pathways for KCNQ4 Gene

genes like me logo Genes that share pathways with KCNQ4: view

Pathways by source for KCNQ4 Gene

1 Qiagen pathway for KCNQ4 Gene
1 PharmGKB pathway for KCNQ4 Gene
1 KEGG pathway for KCNQ4 Gene

Gene Ontology (GO) - Biological Process for KCNQ4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport --
GO:0006813 potassium ion transport TAS 10025409
GO:0007268 synaptic transmission TAS --
GO:0007605 sensory perception of sound IEA --
GO:0034765 regulation of ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCNQ4: view

Compounds for KCNQ4 Gene

(1) HMDB Compounds for KCNQ4 Gene

Compound Synonyms Cas Number PubMed IDs
Potassium
  • K+
7440-09-7

(1) Drugbank Compounds for KCNQ4 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Ezogabine
  • D-23129
150812-12-7 target

(9) IUPHAR Ligand for KCNQ4 Gene

Ligand Type Action Affinity Pubmed IDs
BMS204352 Activator None 5.6
PIP2 Activator Agonist 5.3
retigabine Activator None 5
zinc pyrithione Activator None 5
bepridil Pore Blocker None 5
linopirdine Pore Blocker None 4.5
XE991 Pore Blocker None 4.2
tetraethylammonium Inhibitor None
N-(S)-MPEPAamide Activator None

(3) Novoseek inferred chemical compound relationships for KCNQ4 Gene

Compound -log(P) Hits PubMed IDs
linopirdine 88.7 4
potassium 67.5 12
calcium 0 2
genes like me logo Genes that share compounds with KCNQ4: view

Transcripts for KCNQ4 Gene

mRNA/cDNA for KCNQ4 Gene

(4) Selected AceView cDNA sequences:
(2) Additional mRNA sequences :
(6) REFSEQ mRNAs :
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNQ4 Gene

Potassium voltage-gated channel, KQT-like subfamily, member 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCNQ4 Gene

No ASD Table

Relevant External Links for KCNQ4 Gene

GeneLoc Exon Structure for
KCNQ4
ECgene alternative splicing isoforms for
KCNQ4

Expression for KCNQ4 Gene

mRNA expression in normal human tissues for KCNQ4 Gene

mRNA differential expression in normal tissues according to GTEx for KCNQ4 Gene

This gene is overexpressed in Colon - Sigmoid (4.5), Esophagus - Gastroesophageal Junction (4.1), and Esophagus - Muscularis (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KCNQ4 Gene

SOURCE GeneReport for Unigene cluster for KCNQ4 Gene Hs.473058

mRNA Expression by UniProt/SwissProt for KCNQ4 Gene

P56696-KCNQ4_HUMAN
Tissue specificity: Expressed in the outer, but not the inner, sensory hair cells of the cochlea. Slightly expressed in heart, brain and skeletal muscle
genes like me logo Genes that share expressions with KCNQ4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for KCNQ4 Gene

Orthologs for KCNQ4 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNQ4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNQ4 35
  • 99.76 (n)
  • 99.86 (a)
KCNQ4 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNQ4 35
  • 93.5 (n)
  • 96.78 (a)
KCNQ4 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNQ4 35
  • 94.01 (n)
  • 97.46 (a)
KCNQ4 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnq4 35
  • 91.27 (n)
  • 96.83 (a)
Kcnq4 16
Kcnq4 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNQ4 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNQ4 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnq4 35
  • 90.85 (n)
  • 96.1 (a)
chicken
(Gallus gallus)
Aves KCNQ4 35
  • 78.82 (n)
  • 79.24 (a)
KCNQ4 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNQ4 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnq4 35
  • 69.51 (n)
  • 75.9 (a)
zebrafish
(Danio rerio)
Actinopterygii KCNQ4 36
  • 68 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea kqt-2 36
  • 19 (a)
OneToMany
kqt-1 37
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToMany
Species with no ortholog for KCNQ4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCNQ4 Gene

ENSEMBL:
Gene Tree for KCNQ4 (if available)
TreeFam:
Gene Tree for KCNQ4 (if available)

Paralogs for KCNQ4 Gene

Paralogs for KCNQ4 Gene

Selected SIMAP similar genes for KCNQ4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KCNQ4: view

Variants for KCNQ4 Gene

Sequence variations from dbSNP and Humsavar for KCNQ4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs709688 -- 40,787,513(-) CACCT(C/T)TTGGA intron-variant
rs727145 -- 40,806,861(-) CAATC(A/G)GATTG intron-variant
rs727146 -- 40,806,587(-) TTCTG(A/T)CCCAC intron-variant
rs727147 -- 40,806,577(-) CGGGA(C/T)ATGAA intron-variant
rs727334 -- 40,835,362(-) CTAAA(C/G)AAAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNQ4 Gene

Variant ID Type Subtype PubMed ID
nsv610 CNV Insertion 18451855
nsv870531 CNV Loss 21882294
esv2747408 CNV Deletion 23290073
esv2747419 CNV Deletion 23290073

Relevant External Links for KCNQ4 Gene

HapMap Linkage Disequilibrium report
KCNQ4
Human Gene Mutation Database (HGMD)
KCNQ4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNQ4 Gene

Disorders for KCNQ4 Gene

(1) OMIM Diseases for KCNQ4 Gene (603537)

UniProtKB/Swiss-Prot

KCNQ4_HUMAN
  • Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:10025409, ECO:0000269 PubMed:10369879, ECO:0000269 PubMed:10571947, ECO:0000269 PubMed:10925378, ECO:0000269 PubMed:21242547}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for KCNQ4 Gene

(2) Novoseek inferred disease relationships for KCNQ4 Gene

Disease -log(P) Hits PubMed IDs
hearing loss high-frequency 87.7 2
epilepsy 22.1 1

Relevant External Links for KCNQ4

GeneTests
KCNQ4
GeneReviews
KCNQ4
Genetic Association Database (GAD)
KCNQ4
Human Genome Epidemiology (HuGE) Navigator
KCNQ4
genes like me logo Genes that share disorders with KCNQ4: view

Publications for KCNQ4 Gene

  1. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. (PMID: 10025409) Kubisch C. … Jentsch T.J. (Cell 1999) 2 3 4 23
  2. Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. (PMID: 10369879) Coucke P.J. … Van Camp G. (Hum. Mol. Genet. 1999) 3 4 23
  3. Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss. (PMID: 10571947) Talebizadeh Z. … Smith S.D. (Hum. Mutat. 1999) 3 4 23
  4. Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region. (PMID: 10925378) Van Hauwe P. … Van Camp G. (Am. J. Med. Genet. 2000) 3 4 23
  5. Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan. (PMID: 17033161) Su C.C. … Li S.Y. (Audiol. Neurootol. 2007) 3 23 48

Products for KCNQ4 Gene

Sources for KCNQ4 Gene

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