KCNQ3 - potassium voltage-gated channel subfamily Q member 3 Gene

Also Known as EBN2; BFNC2; KV7.3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3786

About KCNQ3

Cytogenetic location: 8q24.22 Genomic coordinates (GRCh38): 8:132,120,861-132,481,095 (from NCBI)

This gene has 8 transcripts (splice variants), 193 orthologues, 31 paralogues and is associated with 5 phenotypes. Biased expression in brain (RPKM 5.1) and adrenal (RPKM 0.4).

Summary

This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]

KCNQ3 Products (2)

mRNA	Protein	Name
NM_001204824.2	NP_001191753.1	potassium voltage-gated channel subfamily KQT member 3 isoform 2 precursor
NM_004519.4	NP_004510.1	potassium voltage-gated channel subfamily KQT member 3 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables calmodulin binding	IDA IDA: Inferred from direct assay	27564677	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	27564677	GOA
enables voltage-gated monoatomic cation channel activity	IDA IDA: Inferred from direct assay	28793216	GOA
enables voltage-gated potassium channel activity	IDA IDA: Inferred from direct assay	11159685	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	11159685	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	10788442	GOA
part of voltage-gated potassium channel complex	IDA IDA: Inferred from direct assay	11159685	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

KCNQ3 Protein Structure

Ion_trans

KCNQ_channel

KCNQC3-Ank-G_bd

0
200
400
600
800
872 a.a.

Protein Preferred Names	Protein Names
potassium voltage-gated channel subfamily KQT member 3	potassium channel subunit alpha KvLQT3

Related Diseases

Diseases	Alias
Seizures, Benign Familial Neonatal, 2	BFNS2 Bfnc2 Convulsions, Benign Familial Neonatal, 2 Seizures, Benign Neonatal, 2 Seizures, Benign Familial Neonatal 2 Benign Familial Neonatal Convulsions Type 2 Benign Neonatal Epilepsy 2 Ebn2 Epilepsy, Benign Neonatal, Type 2 Seizures, Neonatal, Benign, Familial, Type 2 Epilepsy, Benign Neonatal, 2
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
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
Convulsions Benign Familial Neonatal Dominant Form	Autosomal Dominant Form Of Benign Neonatal Seizures Benign Familial Neonatal Convulsions Benign Familial Neonatal Seizures Epilepsy, Benign Neonatal, 2 Familial Benign Neonatal Epilepsy Benign Familial Convulsion
Kcnq3-Related Disorders
Seizures, Benign Familial Infantile, 5	BFIS5 Convulsions, Benign Familial Infantile, 5 Bfic5 Benign Familial Infantile Seizures 5 Benign Familial Infantile Seizures, 5 Benign Familial Infantile Convulsions 5
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
Benign Familial Infantile Epilepsy	Benign Familial Infantile Seizures Bfie Benign Familial Infantile Convulsion Bfic Bfis Benign Familial Infantile Convulsions Familial Benign Neonatal Epilepsy Watanabe-Vigevano Syndrome
Epilepsy, Myoclonic Juvenile	Juvenile Myoclonic Epilepsy Janz Syndrome Jme Myoclonic Epilepsy, Juvenile, Susceptibility To, 1 EJM Myoclonic Epilepsy, Juvenile Petit Mal, Impulsive Myoclonic Epilepsy, Juvenile 1 Myoclonic Epilepsy, Juvenile, 1 Adolescent Myoclonic Epilepsy Juvenile Myoclonus Epilepsy Juvenile Myoclonic Epilepsy 1 EJM1 Petit Mal Impulsive Susceptibility To Juvenile Myoclonic Epilepsy 1 Myoclonic Epilepsy Juvenile Epilepsy, Myoclonic, Juvenile Myoclonic Epilepsy Of Janz Jme - [Juvenile Myoclonic Epilepsy]
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Epilepsy, Idiopathic Generalized	Idiopathic Generalized Epilepsy Generalised Epilepsy Epilepsy, Generalized EIG Ige Epilepsy, Idiopathic Generalized, Susceptibility To, 1 Epilepsy, Idiopathic Generalized 1 Epilepsy, Idiopathic Generalized, Susceptibility To Epilepsy, Idiopathic, Generalized Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
Neonatal Period Electroclinical Syndrome
Developmental And Epileptic Encephalopathy 7	Epileptic Encephalopathy, Early Infantile, 7 DEE7 Eiee7 Kcnq2-Related Epileptic Encephalopathy Kcnq2-Related Neonatal Epileptic Encephalopathy Developmental And Epileptic Encephalopathy, 7 Early Infantile Epileptic Encephalopathy 7 Kcnq2-Nee Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile, Type 7 Early Infantile Epileptic Encephalopathy With Suppression Bursts
Developmental And Epileptic Encephalopathy 54	DEE54 Epileptic Encephalopathy, Early Infantile, 54 Eiee54 Developmental And Epileptic Encephalopathy, 54 Early Infantile Epileptic Encephalopathy 54 Encephalopathy, Epileptic, Early Infantile, Type 54
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Adnfle Autosomal Dominant Sleep-Related Hypermotor Epilepsy Enfl Benign Familial Infantile Seizures 6 Benign Familial Infantile Seizures, 6 Nocturnal Frontal Lobe Epilepsy-4 Enfl1 Epilepsy, Nocturnal Frontal Lobe, 1 Epilepsy, Nocturnal Frontal Lobe, Type 1
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Episodic Ataxia, Type 1	Episodic Ataxia Type 1 Episodic Ataxia/Myokymia Syndrome EA1 Episodic Ataxia With Myokymia Eam Ataxia, Episodic, With Myokymia Aem Paroxysmal Ataxia With Neuromyotonia, Hereditary Myokymia With Periodic Ataxia Episodic Ataxia 1 Aemk Ea-1 Paroxysmal Ataxia With Neuromyotonia Myokymia Isolated 1 MK1 Ataxia, Episodic, Type 1 Continuous Muscle Fiber Activity, Hereditary Isaacs Syndrome
Infancy Electroclinical Syndrome
Early Onset Absence Epilepsy
Generalized Epilepsy With Febrile Seizures Plus	Gefs+ Genetic Epilepsy With Febrile Seizures Plus Generalized Epilepsy With Febrile Seizures-Plus Genetic Epilepsy With Febrile Seizures-Plus Epilepsy, Generalized, With Febrile Seizures Plus
Childhood Electroclinical Syndrome
Episodic Ataxia	Isaacs Syndrome Neuromyotonia Isaacs' Syndrome Acquired Neuromyotonia Continuous Muscle Fiber Activity Syndrome Quantal Squander Syndrome Isaacs-Mertens Syndrome Ea Syndrome Episodic Ataxia Syndrome Isaac Syndrome Isaac'S-Merten'S Syndrome Isaac-Mertens Syndrome Peripheral Nerve Hyperexcitability Ea Peripheral Nerve Hyperexcitability Syndrome Ataxia, Episodic Isaacs Neuromyotonia Continuous Muscle Fibre Activity
Adolescence-Adult Electroclinical Syndrome
Unverricht-Lundborg Syndrome	Unverricht-Lundborg Disease Epm1 Myoclonic Epilepsy Of Unverricht And Lundborg Myoclonus Progressive Epilepsy Of Unverricht And Lundborg Unverricht - Lundborg Disease Unverricht'S Disease Epilepsy, Progressive Myoclonic Type 1 Epilepsy, Progressive Myoclonus 1 Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy Baltic Myoclonic Epilepsy Baltic Myoclonus Baltic Myoclonus Epilepsy Lundborg-Unverricht Syndrome Mediterranean Myoclonic Epilepsy Pme Progressive Myoclonic Epilepsy Progressive Myoclonus Epilepsy 1 Uld Myoclonic Epilepsies, Progressive
Lennox-Gastaut Syndrome	Lennox Syndrome Encephalopathy Of Childhood Epileptic Encephalopathy Lennox-Gastaut Type Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves Lgs
Dravet Syndrome	Severe Myoclonic Epilepsy Of Infancy Severe Myoclonic Epilepsy In Infancy Smei Epileptic Encephalopathy, Early Infantile, 6 DRVT Developmental And Epileptic Encephalopathy 6a Dee6a Eiee6 Developmental And Epileptic Encephalopathy, 6 Dee6 Developmental And Epileptic Encephalopathy 6 Early Infantile Epileptic Encephalopathy 6 Myoclonic Epilepsy, Severe, Of Infancy Sme Severe Myoclonus Epilepsy Of Infancy Borderline Smei Smeb Smeb-M Smeb-O Smeb-Sw Smei-Borderland Smei-Borderland More Than One Feature Smei-Borderland-Myoclonic Seizures Smei-Borderland-Spike Wave Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures ICEGTC Infantile Severe Myoclonic Epilepsy Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
Photosensitive Epilepsy	Pse Photogenic Epilepsy Photoparoxysmal Response Reflex Epilepsy, Photosensitive Photoparoxysmal Response 1
Trichorhinophalangeal Syndrome, Type Ii	Langer-Giedion Syndrome Lgs Trichorhinophalangeal Syndrome Type Ii Trichorhinophalangeal Syndrome Type 2 TRPS2 Monosomy 8q24.1 Chromosome 8q24.1 Deletion Syndrome Deletion 8q24.1 Giedion-Langer Syndrome Trichorhinophalangeal Dysplasia Type Ii Langer Giedion Syndrome Trps 2 Tricho-Rhino-Phalangeal Syndrome Type Ii Trichorhinophalangeal Syndrome With Exostosis Trps Ii Tricho-Rhino-Phalangeal Syndrome 2 8q24.1 Microdeletion Syndrome 8q24.1 Deletion 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
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
Epilepsy, Pyridoxine-Dependent	Pyridoxine-Dependent Epilepsy PDE Pyridoxine Dependency With Seizures Vitamin B6-Dependent Seizures EPD Aasa Dehydrogenase Deficiency Antiquitin Deficiency Pyridoxine Dependency Glutamate Decarboxylase Deficiency Pyridoxine-Dependent Seizures Deficiency Of Glutamate Decarboxylase
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Migraine With Or Without Aura 1	Migraine Migraine With Or Without Aura, Susceptibility To, 1 Migraine Disorder Migraine Variant Migraines Migraine Disorders Mgr1 Mgau Ma Migraine With Or Without Aura Classic Migraine Common Migraine Disorder, Migraine Headache Migraine Headache Migrainous Migraine Headache Migraine Syndrome Headache Including Migraine Migraine, Susceptibility To

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 (8)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-108577	XE991 dihydrochloride	Inhibitor	/	Unkown
HY-122114	ICA-27243	Activator	98.74%	Unkown
HY-108577A	XE991	Inhibitor	99.69%	Unkown
HY-130070	QO-40	Activator	98.77%	Unkown
HY-184207	Zinc13732787	Inhibitor	/	Unkown
HY-RS07175	KCNQ3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19700	Kcnq3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26195	Kcnq3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	KCNQ3	VGNC	VGNC:30488
Canis familiaris	KCNQ3	VGNC	VGNC:42289
Felis catus	KCNQ3	VGNC	VGNC:67930
Rattus norvegicus	KCNQ3	RGD	RGD:69222
Mus musculus	KCNQ3	MGD	MGI:1336181
Macaca mulatta	KCNQ3	VGNC	VGNC:74006
Others	KCNQ3	NCBI