KCNQ2 - potassium voltage-gated channel subfamily Q member 2 Gene

Also Known as EBN; BFNC; DEE7; EBN1; ENB1; HNSPC; KV7.2; KCNA11

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3785

About KCNQ2

Cytogenetic location: 20q13.33 Genomic coordinates (GRCh38): 20:63,400,208-63,472,655 (from NCBI)

This gene has 47 transcripts (splice variants), 1 gene allele, 250 orthologues, 31 paralogues and is associated with 10 phenotypes. Biased expression in brain (RPKM 15.5), adrenal (RPKM 2.3) and 1 other tissue.

Summary

The M channel is a slowly activating and deactivating Potassium Channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

KCNQ2 Products (6)

mRNA Protein Name
NM_001382235.1 NP_001369164.1 potassium voltage-gated channel subfamily KQT member 2 isoform f
NM_004518.6 NP_004509.2 potassium voltage-gated channel subfamily KQT member 2 isoform c
NM_172106.3 NP_742104.1 potassium voltage-gated channel subfamily KQT member 2 isoform b
NM_172107.4 NP_742105.1 potassium voltage-gated channel subfamily KQT member 2 isoform a
NM_172108.5 NP_742106.1 potassium voltage-gated channel subfamily KQT member 2 isoform d
NM_172109.3 NP_742107.1 potassium voltage-gated channel subfamily KQT member 2 isoform e
Molecular Function GO Annotation Evidence Références Source
enables ankyrin binding IPI
IPI: Inferred from physical interaction
16525039 GOA
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
9836639 GOA
Biological Process GO Annotation Evidence Références Source
involved in potassium ion transmembrane transport IDA
IDA: Inferred from direct assay
9836639 GOA
Cellular Component GO Annotation Evidence Références Source
located in plasma membrane IDA
IDA: Inferred from direct assay
9836639 GOA
part of voltage-gated potassium channel complex IDA
IDA: Inferred from direct assay
9836639 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

KCNQ2 Protein Structure

Ion_trans

Ion_trans: Ion transport protein (128 - 311)

KCNQ_channel

KCNQ_channel: KCNQ voltage-gated potassium channel (464 - 663)

KCNQC3-Ank-G_bd

KCNQC3-Ank-G_bd: Ankyrin-G binding motif of KCNQ2-3 (767 - 869)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 872 a.a.
Protein Preferred Names Protein Names

potassium voltage-gated channel subfamily KQT member 2

  • neuroblastoma-specific potassium channel subunit alpha KvLQT2

KCNQ2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
KCNQ2 O43526 GOLM1 Homo sapiens Q8NBJ4 33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

Seizures, Benign Familial Neonatal, 1
  • Myokymia

  • BFNS1

  • Seizures, Benign Neonatal, 1

  • Myokymia With Neonatal Epilepsy

  • Seizures, Benign Familial Neonatal 1

  • Benign Familial Neonatal Convulsions 1

  • Benign Neonatal Epilepsy 1

  • Benign Neonatal Epilepsy 1 And/Or Myokymia

  • Benign Neonatal Epilepsy 1 With Myokymia

  • Benign Neonatal Epilepsy Atypical Severe

  • Bfnc/Myokymia Syndrome

  • Bfnc1

  • Convulsions Benign Familial Neonatal 1 With Myokymia

  • Ebn1

  • Myokymia Isolated

  • Epilepsy, Benign Neonatal, 1, And/Or Myokymia

  • Seizures, Benign Neonatal, Type 1

Kcnq2-Related Disorders
Developmental And Epileptic Encephalopathy 1
  • Epileptic Encephalopathy, Early Infantile, 1

  • Infantile Epileptic-Dyskinetic Encephalopathy

  • DEE1

  • Eiee1

  • Issx1

  • Xmesid

  • X-Linked Infantile Spasm Syndrome 1

  • X-Linked Infantile Spasm Syndrome

  • X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome

  • Developmental And Epileptic Encephalopathy, 1

  • Infantile Epileptic Dyskinetic Encephalopathy

  • Infantile Spasm Syndrome, X-Linked 1

  • West Syndrome, X-Linked

  • Ohtahara Syndrome, X-Linked

  • Early Infantile Epileptic Encephalopathy 1

  • Early Infantile Epileptic Encephalopathy-1

  • Issx

  • X-Linked Ohtahara Syndrome

  • X-Linked West Syndrome

  • Infantile Spasm Syndrome X-Linked 1

  • Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity

  • Ohtahara Syndrome X-Linked

  • West Syndrome X-Linked

  • Encephalopathy, Epileptic, Early Infantile, Type 1

Kcnq3-Related Disorders
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

Developmental And Epileptic Encephalopathy
  • Encephalopathy, Developmental And Epileptic

Seizures, Benign Familial Infantile, 3
  • Bfnis

  • Benign Familial Neonatal-Infantile Seizures

  • BFIS3

  • Bfic3

  • Seizures, Benign Familial Neonatal-Infantile

  • Convulsions, Benign Familial Infantile, 3

  • Benign Familial Infantile Seizures 3

  • Benign Familial Infantile Seizures, 3

  • Benign Familial Infantile Convulsions

  • Convulsions Benign Familial Neonatal

  • Epilepsy, Benign Neonatal-Infantile

  • Benign Neonatal-Infantile Epilepsy

  • Benign Familial Infantile Convulsions 3

  • Benign Familial Neonatal-Infantile Epilepsy

  • Familial Benign Neonatal Epilepsy

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

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

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

Developmental And Epileptic Encephalopathy 14
  • Malignant Migrating Partial Seizures Of Infancy

  • Eiee14

  • Epilepsy Of Infancy With Migrating Focal Seizures

  • Mmpsi

  • DEE14

  • Epileptic Encephalopathy, Early Infantile, 14

  • Early Infantile Epileptic Encephalopathy 14

  • Malignant Migrating Partial Epilepsy Of Infancy

  • Migrating Partial Epilepsy Of Infancy

  • Migrating Partial Seizures Of Infancy

  • Mmpei

  • Mpei

  • Mpsi

  • Malignant Migrating Focal Seizures Of Infancy

  • Migrating Partial Seizures In Infancy

  • Developmental And Epileptic Encephalopathy, 14

  • Encephalopathy, Epileptic, Early Infantile, Type 14

Ohtahara Syndrome
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

Autosomal Dominant Non-Syndromic Intellectual Disability
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

Neonatal Period Electroclinical Syndrome
Epicanthus
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

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

Status Epilepticus
  • Grand Mal Status Epilepticus

  • Grand Mal Status

  • Gcse

  • Generalized Convulsive Status Epilepticus

  • Se

  • Epilepsy With Status Epilepticus

Neuroblastoma
  • Nb

  • Neuroblastoma, Susceptibility To

  • Neuroblastomas

  • Central Neuroblastoma

Infancy Electroclinical Syndrome
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

Childhood Electroclinical Syndrome
Landau-Kleffner Syndrome
  • Acquired Epileptic Aphasia

  • Lks

  • Acquired Aphasia With Convulsive Disorder

  • Acquired Epileptiform Aphasia

  • Landau Kleffner Syndrome

  • Childhood Epileptic Aphasia

Long Qt Syndrome
  • Romano-Ward Syndrome

  • Long Q-T Syndrome

  • Lqt

  • Qt Syndrome, Long

  • Congenital Long Qt Syndrome

  • Familial Long Qt Syndrome

Combined Oxidative Phosphorylation Deficiency 13
  • COXPD13

  • Combined Oxidative Phosphorylation Defect Type 13

  • Combined Oxidative Phosphorylation Deficiency, Type 13

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

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

Partial Motor Epilepsy
  • Epilepsy, Partial, Motor

  • Epilepsy, Focal Motor

  • Focal Motor Seizure

Developmental And Epileptic Encephalopathy 21
  • DEE21

  • Epileptic Encephalopathy, Early Infantile, 21

  • Eiee21

  • Developmental And Epileptic Encephalopathy, 21

  • Early Infantile Epileptic Encephalopathy 21

  • Encephalopathy, Epileptic, Early Infantile, Type 21

Lennox-Gastaut Syndrome
  • Lennox Syndrome

  • Encephalopathy Of Childhood

  • Epileptic Encephalopathy Lennox-Gastaut Type

  • Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves

  • Lgs

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

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

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

Schuurs-Hoeijmakers Syndrome
  • SHMS

  • Pacs1-Related Syndrome

  • Mrd17

  • Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome

  • Intellectual Developmental Disorder, Autosomal Dominant 17

  • Autosomal Dominant Intellectual Disability-17

  • Autosomal Dominant Mental Retardation 17

  • Pacs1 Syndrome

  • Mental Retardation, Autosomal Dominant 17

Early Onset Absence Epilepsy
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

Congenital Disorder Of Glycosylation, Type Iim
  • CDG2M

  • Congenital Disorder Of Glycosylation Type Iim

  • Slc35a2-Cdg

  • Epileptic Encephalopathy, Early Infantile, 22

  • Cdg-Iim

  • Cdg Iim

  • Cdgiim

  • Developmental And Epileptic Encephalopathy 22

  • Eiee22

  • Congenital Disorder Of Glycosylation Type 2m

  • Cdg Syndrome Type Iim

  • Dee22

  • Slc35a2-Congenital Disorder Of Glycosylation

  • Epileptic Encephalopathy, Early Infantile, 22

  • Eiee22

  • Congenital Disorder Of Glycosylation 2m

  • Congenital Disorder Of Glycosylation X-Linked

  • Glycosylation, Congenital Disorder Of, Type Iim

Combined Oxidative Phosphorylation Deficiency 1
  • Hepatoencephalopathy Due To Combined Oxidative Phosphorylation Defect Type 1

  • COXPD1

  • Early Fatal Progressive Hepatoencephalopathy

  • Hepatoencephalopathy Due To Coxpd1

  • Combined Oxidative Phosphorylation Deficiency, Type 1

  • Hepatoencephalopathy, Early Fatal Progressive

  • Hepatoencephalopathy Early Fatal Progressive

Photosensitive Epilepsy
  • Pse

  • Photogenic Epilepsy

  • Photoparoxysmal Response

  • Reflex Epilepsy, Photosensitive

  • Photoparoxysmal Response 1

Adolescence-Adult Electroclinical Syndrome
Focal Epilepsy
  • Partial Epilepsy

  • Epilepsies, Partial

  • Localisation-Related Epilepsy

Developmental And Epileptic Encephalopathy 9
  • Efmr

  • Epileptic Encephalopathy, Early Infantile, 9

  • Eiee9

  • DEE9

  • Juberg-Hellman Syndrome

  • Epilepsy, Female-Restricted, With Mental Retardation

  • Developmental And Epileptic Encephalopathy, 9

  • Early Infantile Epileptic Encephalopathy 9

  • Early Infantile Female-Limited Epilecptic Encephalopathy

  • Female Restricted Epilepsy With Mental Retardation

  • Juberg Hellman Syndrome

  • Pcdh19-Related Female-Limited Epilepsy

  • Epilepsy And Intellectual Disability Limited To Females

  • Epilepsy, Female Restricted, With Intellectual Disability

  • Familial Epilepsy And Intellectual Disability Limited To Females

  • Female Restricted Epilepsy With Intellectual Delays

  • Pcdh19-Related Fle

  • Pcdh19-Related Infantile Epileptic Encephalopathy

  • Female Restricted Epilepsy With Intellectual Disability

  • Encephalopathy, Epileptic, Early Infantile, Type 9

Epilepsy With Generalized Tonic-Clonic Seizures
  • Tonic-Clonic Epilepsy

  • Epileptic Seizures, Tonic-Clonic

  • Grand Mal Epilepsy

  • Epilepsy, Tonic-Clonic

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]

Childhood Absence Epilepsy
  • Pyknolepsy

  • Petit Mal Epilepsy

  • Absence Seizures

  • Absence Seizure

  • Petit Mal Seizure

  • Absence Epilepsy, Childhood

  • Pykno-Epilepsy

  • Epilepsy, Absence

  • Absence Epilepsy

  • Pycnolepsy

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

Episodic Kinesigenic Dyskinesia 1
  • Paroxysmal Kinesigenic Choreoathetosis

  • Paroxysmal Kinesigenic Dyskinesia

  • Dystonia 10

  • Familial Paroxysmal Kinesigenic Dyskinesia

  • Episodic Kinesigenic Dyskinesia

  • EKD1

  • Pkc

  • Pkd

  • Dyt10

  • Familial Pkd

  • Paroxysmal Kinesigenic Choreathetosis

  • Familial Paroxysmal Dystonia

  • Dystonia, Familial Paroxysmal

  • Dyt-Prrt2

  • Dystonia, Type 10

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

Erythromelalgia
  • Primary Erythromelalgia

  • Erythermalgia

  • Primary Erythermalgia

  • Mitchell Disease

  • Familial Erythromelalgia

Glycine Encephalopathy
  • Non-Ketotic Hyperglycinemia

  • Nonketotic Hyperglycinemia

  • NKH

  • GCE

  • Hyperglycinemia, Nonketotic

  • Hyperglycinemia Nonketotic

  • Infantile Glycine Encephalopathy

  • Encephalopathy, Glycine

  • Glycine Synthase Deficiency

  • Nka

  • Neonatal Glycine Encephalopathy

  • Classic Glycine Encephalopathy

  • Neonatal Nkh

  • Neonatal Non-Ketotic Hyperglycinemia

  • Infantile Nkh

  • Infantile Non-Ketotic Hyperglycinemia

  • Non-Ketotic Hyperglycinaemia

  • Glycine Cleavage Deficiency

  • Nonketotic Hyperglycinaemia

Progressive Myoclonus Epilepsy
  • Pme

  • Progressive Myoclonic Epilepsy

  • Myoclonic Epilepsies, Progressive

  • Unverricht-Lundborg Syndrome

Chromosome 1p36 Deletion Syndrome
  • 1p36 Deletion Syndrome

  • Deletion 1p36

  • Monosomy 1p36

  • Subtelomeric 1p36 Deletion

  • Monosomy 1p36 Syndrome

  • Distal Monosomy 1p36

  • Del(1)(P36)

  • Deletion 1pter

  • Monosomy 1pter

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

Familial Atrial Fibrillation
  • Atrial Fibrillation, Familial

  • Atfb

  • Atrial Fibrillation Autosomal Dominant

  • Autosomal Dominant Atrial Fibrillation

  • Auricular Fibrillation

  • Atrial Fibrillation

  • Atrial Fibrillation, Familial, 1

Brugada Syndrome
  • Sudden Unexpected Nocturnal Death Syndrome

  • Sudden Unexplained Nocturnal Death Syndrome

  • Bangungut

  • Brugada Type Idiopathic Ventricular Fibrillation

  • Pokkuri Death Syndrome

  • Sunds

  • Idiopathic Ventricular Fibrillation, Brugada Type

  • Sudden Unexplained Death

  • Dream Disease

  • Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

  • Sudden Unexplained Death Syndrome

  • Suds

  • Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus KCNQ2 RGD RGD:621504
Macaca mulatta KCNQ2 VGNC VGNC:74005
Mus musculus KCNQ2 MGD MGI:1309503
Bos taurus KCNQ2 VGNC VGNC:30487
Canis familiaris KCNQ2 VGNC VGNC:42288
Felis catus KCNQ2 VGNC VGNC:67929
Others KCNQ2 NCBI