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

Homo sapiens

Also known as DFNA2; KV7.4; DFNA2A

Gene ID: 9132 | Gene type: protein coding

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

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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-122114	ICA-27243	Activator	99.18%	Unkown
HY-123264	RL648_81	Inhibitor	99.20%	Unkown
HY-RS07176	KCNQ4 Human Pre-designed siRNA Set A		/	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