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Aliases for KCNQ4 Gene

Aliases for KCNQ4 Gene

  • Potassium Voltage-Gated Channel Subfamily Q Member 4 2 3
  • Potassium Channel, Voltage Gated KQT-Like Subfamily Q, Member 4 2 3 5
  • Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member 4 2 3
  • Potassium Channel Subunit Alpha KvLQT4 3 4
  • Voltage-Gated Potassium Channel Subunit Kv7.4 4
  • Potassium Channel KQT-Like 4 3
  • KQT-Like 4 4
  • DFNA2A 3
  • 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 Voltage-Gated Channel 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 Circadian entrainment and Celecoxib Pathway, Pharmacodynamics. GO annotations related to this gene include ion 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

Enhancers for KCNQ4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KCNQ4 on UCSC Golden Path with GeneCards custom track

Promoters for KCNQ4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KCNQ4 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNQ4 Gene

Chromosome:
1
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

Genes around KCNQ4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNQ4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Antibody Products

No data available for DME Specific Peptides for KCNQ4 Gene

Domains & Families for KCNQ4 Gene

Gene Families for KCNQ4 Gene

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 :
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
  • Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.4/KCNQ4 sub-subfamily.
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.
genes like me logo Genes that share phenotypes with KCNQ4: view

Human Phenotype Ontology for KCNQ4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNQ4 Gene

MGI Knock Outs for KCNQ4:

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNQ4

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets 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
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KCNQ4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0043005 neuron projection IEA --
genes like me logo Genes that share ontologies with KCNQ4: view

Pathways & Interactions for KCNQ4 Gene

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

Pathways by source for KCNQ4 Gene

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

Gene Ontology (GO) - Biological Process for KCNQ4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound IEA --
GO:0042472 inner ear morphogenesis IEA --
genes like me logo Genes that share ontologies with KCNQ4: view

No data available for SIGNOR curated interactions for KCNQ4 Gene

Drugs & Compounds for KCNQ4 Gene

(14) Drugs for KCNQ4 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ezogabine Approved Pharma Activator, activator, Target 27
Bepridil Approved, Withdrawn Pharma Pore Blocker, blocker 0
tetraethylammonium Experimental Pharma Inhibitor 1
Potassium Experimental Pharma 0
ICA-105665 Investigational Pharma activator, Target 0

(2) Additional Compounds for KCNQ4 Gene - From: IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
BMS204352
Activator
N-(S)-MPEPAamide
Activator
genes like me logo Genes that share compounds with KCNQ4: view

Transcripts for KCNQ4 Gene

mRNA/cDNA for KCNQ4 Gene

(6) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(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 (x4.5), Esophagus - Gastroesophageal Junction (x4.1), and Esophagus - Muscularis (x4.0).

Protein differential expression in normal tissues from HIPED for KCNQ4 Gene

This gene is overexpressed in Heart (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with KCNQ4: view

Protein tissue co-expression partners for KCNQ4 Gene

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia KCNQ4 35
  • 99.76 (n)
  • 99.86 (a)
KCNQ4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnq4 35
  • 90.85 (n)
  • 96.1 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNQ4 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNQ4 36
  • 72 (a)
OneToOne
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-1 37
  • 42 (a)
kqt-2 36
  • 19 (a)
OneToMany
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

(4) 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
rs28937588 Deafness, autosomal dominant, 2A (DFNA2A) 40,819,893(+) CCATC(A/G/T)GCTAT nc-transcript-variant, reference, missense
VAR_008726 Deafness, autosomal dominant, 2A (DFNA2A)
VAR_008727 Deafness, autosomal dominant, 2A (DFNA2A)
rs28939710 Deafness, autosomal dominant, 2A (DFNA2A) 40,820,180(+) GCTCC(A/G)GCTTT nc-transcript-variant, reference, missense
VAR_010936 Deafness, autosomal dominant, 2A (DFNA2A)

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

Variation tolerance for KCNQ4 Gene

Residual Variation Intolerance Score: 60.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.10; 69.12% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(10) MalaCards diseases for KCNQ4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal dominant 2a
  • deafness, autosomal dominant, 2a
dfna2 nonsyndromic hearing loss
  • dfna 2 nonsyndromic hearing loss
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
hearing loss/deafness
sensorineural hearing loss
  • central hearing loss
- elite association - COSMIC cancer census association via MalaCards
Search KCNQ4 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for KCNQ4

Genetic Association Database (GAD)
KCNQ4
Human Genome Epidemiology (HuGE) Navigator
KCNQ4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNQ4
genes like me logo Genes that share disorders with KCNQ4: view

No data available for Genatlas for KCNQ4 Gene

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 67
  2. A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression. (PMID: 18030493) MencA-a A. … Moreno-Pelayo M.A. (Hum. Genet. 2008) 3 23
  3. KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss. (PMID: 18797286) Nie L. (Curr Opin Otolaryngol Head Neck Surg 2008) 3 23
  4. Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus. (PMID: 18941426) Hildebrand M.S. … Smith R.J. (Genet. Med. 2008) 3 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

Products for KCNQ4 Gene

Sources for KCNQ4 Gene

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