KCNQ4 - potassium voltage-gated channel subfamily Q member 4 Gene

Also Known as DFNA2; KV7.4; DFNA2A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9132

About KCNQ4

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:40,783,787-40,840,452 (from NCBI)

This gene has 4 transcripts (splice variants), 199 orthologues, 31 paralogues and is associated with 2 phenotypes. Ubiquitous expression in endometrium (RPKM 1.8), prostate (RPKM 1.3) and 24 other tissues.

Summary

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]

KCNQ4 Products (2)

mRNA	Protein	Name
NM_004700.4	NP_004691.2	potassium voltage-gated channel subfamily KQT member 4 isoform a
NM_172163.3	NP_751895.1	potassium voltage-gated channel subfamily KQT member 4 isoform b

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19687231	GOA
enables voltage-gated potassium channel activity	IDA IDA: Inferred from direct assay	11245603	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KCNQ4 Protein Structure

Ion_trans

KCNQ_channel

0
200
400
600
695 a.a.

Protein Preferred Names	Protein Names
potassium voltage-gated channel subfamily KQT member 4	potassium channel KQT-like 4

Related Diseases

Diseases	Alias
Deafness, Autosomal Dominant 2a	DFNA2A Autosomal Dominant Nonsyndromic Deafness 2a Autosomal Dominant Deafness 2a Deafness, Autosomal Dominant, 2a Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 2a Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 2a Deafness, Autosomal Dominant, Type 2a
Dfna2 Nonsyndromic Hearing Loss	Dfna 2 Nonsyndromic Hearing Loss
Non-Syndromic Genetic Deafness	Nonsyndromic Genetic Hearing Loss Isolated Genetic Deafness Isolated Genetic Hearing Loss Non-Syndromic Genetic Hearing Loss
Nonsyndromic Hearing Loss	Nonsyndromic Deafness Nonsyndromic Hearing Impairment Nonsyndromic Hearing Loss And Deafness Deafness, Nonsyndromic Isolated Deafness
Rare Genetic Deafness	Rare Genetic Hearing Loss
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Deafness Type Dfna Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna Autosomal Dominant Isolated Sensorineural Deafness Type Dfna Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Deafness, Autosomal Dominant 18	DFNA18 Autosomal Dominant Nonsyndromic Deafness 18 Autosomal Dominant Deafness 18
Deafness, Autosomal Dominant 15	DFNA15 Autosomal Dominant Nonsyndromic Deafness 15 Autosomal Dominant Deafness 15 Deafness, Autosomal Dominant, 15 Deafness, Autosomal Dominant, Type 15
Deafness, Autosomal Dominant 9	DFNA9 Autosomal Dominant Nonsyndromic Deafness 9 Autosomal Dominant Deafness 9 Deafness, Autosomal Dominant, 9 Deafness, Autosomal Dominant, Type 9
Benign Neonatal Seizures	Benign Neonatal Epilepsy Benign Familial Neonatal Seizures Benign Neonatal Convulsions Benign Familial Neonatal Convulsions Benign Familial Neonatal Epilepsy Bfne Bfns Seizures, Benign Neonatal Neonatal Convulsions Benign Epilepsy, Benign Neonatal Epilepsy, Benign Neonatal, 2 Benign Familial Convulsion Familial Benign Neonatal Epilepsy
Deafness, Autosomal Dominant 25	DFNA25 Autosomal Dominant Nonsyndromic Deafness 25 Autosomal Dominant Deafness 25 Deafness, Autosomal Dominant, 25 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 25 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 25 Deafness, Autosomal Dominant, Type 25
Deafness, Autosomal Dominant 28	DFNA28 Autosomal Dominant Nonsyndromic Deafness 28 Autosomal Dominant Deafness 28 Deafness, Autosomal Dominant, 28 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 28 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 28 Deafness, Autosomal Dominant, Type 28
Deafness, Autosomal Recessive 14	DFNB14 Autosomal Recessive Nonsyndromic Deafness 14 Autosomal Recessive Deafness 14
Deafness, Autosomal Dominant 2b	DFNA2B Autosomal Dominant Nonsyndromic Deafness 2b Autosomal Dominant Deafness 2b Deafness, Autosomal Dominant, 2b Deafness, Autosomal Dominant, Type 2b
Deafness, Autosomal Dominant 13	DFNA13 Autosomal Dominant Nonsyndromic Deafness 13 Autosomal Dominant Deafness 13 Deafness, Autosomal Dominant, 13 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 13 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 13 Deafness, Autosomal Dominant, Type 13
Deafness, Autosomal Dominant 44	DFNA44 Autosomal Dominant Nonsyndromic Deafness 44 Autosomal Dominant Deafness 44 Deafness, Autosomal Dominant, 44 Deafness, Autosomal Dominant, Type 44
Deafness, Autosomal Dominant 41	DFNA41 Autosomal Dominant Nonsyndromic Deafness 41 Autosomal Dominant Deafness 41 Deafness, Autosomal Dominant, 41 Deafness, Autosomal Dominant, Type 41
Superior Semicircular Canal Dehiscence	Superior Canal Dehiscence Syndrome Superior Semicircular Canal Dehiscence Syndrome Canal Dehiscence Syndrome Superior Canal Dehiscence Superior Canal Syndrome Third Mobile Window Syndrome Scds Anemia, Sickle Cell
Deafness, Autosomal Dominant 16	DFNA16 Autosomal Dominant Nonsyndromic Deafness 16 Autosomal Dominant Deafness 16
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Enlarged Vestibular Aqueduct DFNB4 Neurosensory Nonsyndromic Recessive Deafness 4 Enlarged Vestibular Aqueduct Syndrome Nsrd4 Autosomal Recessive Nonsyndromic Deafness 4 Dilated Vestibular Aqueduct Dva Enlarged Vestibular Aqueduct, Digenic Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct Large Vestibular Aqueduct Syndrome Deafness, Autosomal Recessive, 4 Deafness Neurosensory Autosomal Recessive 4 Eva Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
Deafness, Autosomal Dominant 10	DFNA10 Autosomal Dominant Nonsyndromic Deafness 10 Autosomal Dominant Deafness 10 Deafness, Autosomal Dominant, 10 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 10 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 10 Deafness, Autosomal Dominant, Type 10
Waardenburg Syndrome, Type 4c	Waardenburg Syndrome Type 4c WS4C Waardenburg Syndrome Type Ivc Waardenburg Syndrome With Hirschsprung Disease Type 4c Waardenburg Syndrome With Hirschsprung Disease, Type 4c Waardenburg Syndrome, Type Ivc Waardenburg Syndrome 4c Hirschsprung Disease With Pigmentary Anomaly Shah-Waardenburg Syndrome Waardenburg-Shah Syndrome Waardenburg Syndrome, Type 4a
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Deafness, Autosomal Dominant 22	DFNA22 Deafness, Autosomal Dominant 22, With Hypertrophic Cardiomyopathy Autosomal Dominant Nonsyndromic Deafness 22 Progressive Sensorineural Hearing Loss-Hypertrophic Cardiomyopathy Syndrome Autosomal Dominant Deafness 22 Progressive Neurosensory Deafness-Hypertrophic Cardiomyopathy Syndrome Progressive Neurosensory Hearing Loss-Hypertrophic Cardiomyopathy Syndrome Progressive Sensorineural Deafness-Hypertrophic Cardiomyopathy Syndrome DFNHCM Deafness, Autosomal Dominant, 22 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 22 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 22 Deafness, Autosomal Dominant, Type 22 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22
Deafness, Autosomal Dominant 64	DFNA64 Autosomal Dominant Nonsyndromic Deafness 64 Autosomal Dominant Deafness 64 Deafness, Autosomal Dominant, 64 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 64 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 64 Deafness, Autosomal Dominant, Type 64
Benign Familial Neonatal Epilepsy	Familial Neonatal Seizures Bfns Benign Familial Neonatal Convulsions Benign Familial Neonatal Seizures Epilepsy Benign Neonatal Familial Familial Benign Neonatal Convulsions Benign Neonatal Familial Convulsions Familial Benign Neonatal Epilepsy Epilepsy, Benign Neonatal, 2 Benign Familial Convulsion
Deafness, Autosomal Dominant 4a	Deafness, Autosomal Dominant 4 DFNA4A Dfna4 Autosomal Dominant Nonsyndromic Deafness 4a Autosomal Dominant Deafness 4a Deafness, Autosomal Dominant, 4a Deafness Autosomal Dominant 4 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 4 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 4 Deafness, Autosomal Dominant, Type 4a
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Peripheral Vertigo	Vertigo, Peripheral
Branchiootorenal Syndrome 1	Melnick-Fraser Syndrome BOR1 Branchiootorenal Dysplasia Branchiootorenal Syndrome 1, With Or Without Cataracts Bor Syndrome 1 Branchiootorenal Dysplasia 1 Branchio-Oto-Renal Dysplasia 1 Branchio-Oto-Renal Syndrome Type 1 Branchiootorenal Syndrome, With/Without Cataract, Type 1 Branchio-Oto-Renal Syndrome
Vestibular Disease	Vestibular Diseases Vertigo, Vestibular Disorder Vestibular Disorder Diseases Of Inner Ear
Waardenburg Syndrome, Type 1	Waardenburg Syndrome Type 1 WS1 Waardenburg Syndrome Type I Waardenburg Syndrome With Dystopia Canthorum Waardenburg'S Syndrome Type 1 Waardenburg Syndrome 1 Waardenburg Syndrome, Type I Waardenburg Syndrome
Inner Ear Disease	Labyrinthine Dysfunction Diseases Of Inner Ear Labyrinthine Disease Abnormality Of The Inner Ear Labyrinth Diseases Labyrinthine Disorder Nonfunctioning Labyrinth Labyrinthine Loss Of Function Labyrinthine Syndrome Labyrinthine Disorder Nos
Meniere Disease	Meniere'S Disease Otogenic Vertigo Ménière Disease Ménière'S Disease Mnire'S Vertigo Auditory Vertigo Aural Vertigo Meniere'S Syndrome Ménière'S Vertigo Primary Endolymphatic Hydrops Menieres Disease Vertigo, Aural Labyrinth Hydrops Labyrinthine Hydrops Labyrinthine Vertigo Ménière Syndrome Ménière Vertigo Idiopathic Endolymphatic Hydrops
Deafness, Autosomal Recessive 1a	DFNB1A Deafness, Digenic, Gjb2/Gjb3 Autosomal Recessive Nonsyndromic Deafness 1a Deafness, Digenic, Gjb2/Gjb6 Deafness, Digenic Gjb2/Gjb6 Autosomal Recessive Deafness 1a Deafness, Autosomal Recessive, 1a Deafness Digenic Gjb2/Gjb3 Deafness Digenic Gjb2/Gjb6 Deafness Neurosensory Autosomal Recessive 1 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1 Nsrd1 Deafness, Autosomal Recessive, Type 1a
Neonatal Period Electroclinical Syndrome
Long Qt Syndrome 1	Romano-Ward Syndrome LQT1 Ward-Romano Syndrome Rws Ventricular Fibrillation With Prolonged Qt Interval Wrs Long Qt Syndrome 1, Acquired, Susceptibility To Long Qt Syndrome 1, Acquired Romano-Ward Long Qt Syndrome Long Qt Syndrome Type 1 Long Qt Syndrome-1 Acquired Susceptibility To Long Qt Syndrome 1 Qt Syndrome, Long, Type 1
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Usher Syndrome, Type I	USH1 Usher Syndrome Type 1 Us1 Usher Syndrome, Type 1b Usher Syndrome Type 1e Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type Ie USH1E Usher Syndrome, Type 1e Usher Syndrome, Type 1a Usher Syndrome, Type Ib Usher Syndrome Type 1b Usher Syndrome Type Ie Usher Syndrome Type I Usher 1 Usher Syndrome, Type 1 Ush1a Usher Syndrome, Type I, French Variety Usher Syndrome, Type Ia Usher Syndrome 1b USH1B Usher'S Syndrome Type 1b Usher Syndrome Type Ib Ushib
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 1
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (9)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-122114	ICA-27243	Activator	98.74%	Unkown
HY-18063	ML252	Inhibitor	99.9%	Unkown
HY-123264	RL648_81	Inhibitor	99.49%	Unkown
HY-18063A	ML252 hydrochloride	Inhibitor	98.5%	Unkown
HY-182435	CLE-030	Agonist	/	Unkown
HY-RS07176	KCNQ4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-115823	ztz240		99.94%	Unkown
HY-RS18392	Kcnq4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24873	Kcnq4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	KCNQ4	VGNC	VGNC:30489
Felis catus	KCNQ4	VGNC	VGNC:67931
Macaca mulatta	KCNQ4	VGNC	VGNC:74007
Mus musculus	KCNQ4	MGD	MGI:1926803
Canis familiaris	KCNQ4	VGNC	VGNC:42290
Rattus norvegicus	KCNQ4	RGD	RGD:61799
Others	KCNQ4	NCBI