1. Gene
  2. KCND2 - potassium voltage-gated channel subfamily D member 2 Gene

KCND2 - potassium voltage-gated channel subfamily D member 2 Gene

Homo sapiens

Also known as RK5; KV4.2

Gene ID: 3751 | Gene type: protein coding

About KCND2

Cytogenetic location: 7q31.31 Genomic coordinates (GRCh38): 7:120,272,908-120,750,337 (from NCBI)

This gene has 3 transcripts (splice variants), 190 orthologues and 31 paralogues. Biased expression in brain (RPKM 4.5), endometrium (RPKM 1.1) and 5 other tissues.

Summary

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, Insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related Potassium Channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the Potassium Channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member mediates a rapidly inactivating, A-type outward potassium current which is not under the control of the N terminus as it is in Shaker channels. [provided by RefSeq, Jul 2008]

KCND2 Products(1)

mRNA Protein Name
NM_012281.3 NP_036413.1 potassium voltage-gated channel subfamily D member 2 precursor

KCND2 Protein Structure

Shal-type

Shal-type: Shal-type voltage-gated potassium channels, N-terminal (3 - 30)

BTB_2

BTB_2: BTB/POZ domain (43 - 132)

Ion_trans

Ion_trans: Ion transport protein (231 - 405)

DUF3399

DUF3399: Domain of unknown function (DUF3399) (445 - 546)

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  • 630 a.a.
Protein Preferred Names Protein Names

potassium voltage-gated channel subfamily D member 2

potassium channel, voltage gated Shal related subfamily D, member 2

Related Diseases

Diseases Alias
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

Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome

Pervasive Developmental Disorder

Pervasive Development Disorder

Pervasive Developmental Disorders

Pervasive Child Development Disorders

Autistic Behavior

Autism Spectrum Disorders

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]

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

Fragile X Syndrome

FXS

Martin-Bell Syndrome

Fraxa Syndrome

Marker X Syndrome

X-Linked Mental Retardation And Macroorchidism

Fragile X Mental Retardation Syndrome

Fra Syndrome

Mental Retardation, X-Linked, Associated With Marxq28

X-Linked Intellectual Disability And Macroorchidism

Frax Syndrome

Symptomatic Form Of Fragile X Syndrome In Female Carriers

Fragile-X Syndrome

Fraxe Syndrome

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Diamond-Blackfan Anemia 3

DBA3

Anemia, Diamond-Blackfan, 3

Rps24-Related Diamond-Blackfan Anemia

Anemia Diamond-Blackfan 3

Anemia, Diamond-Blackfan, Type 3

Cycloplegia

Ciliary Muscle Paresis

Cycloplegic Paralysis Of Accommodation

Paresis Of Accommodation

Visual Accommodation Paralysis

Accommodation Paralysis

Intrinsic Paralysis Of Eye Muscle

Cycloplegic

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

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Catecholaminergic Polymorphic Ventricular Tachycardia 2

CPVT2

Vtsip

Bidirectional Tachycardia

Stress-Induced Polymorphic Ventricular Tachycardia

Ventricular Tachycardia, Stress-Induced Polymorphic

Cvpt2

Double Tachycardia Induced By Catecholamines

Malignant Paroxysmal Ventricular Tachycardia

Multifocal Ventricular Premature Beats

Paroxysmal Ventricular Fibrillation

Syncopal Paroxysmal Tachycardia

Syncopal Tachyarythmia

Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 2

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Multifocal Pvcs

Multifocal Premature Ventricular Beats

Paroxysmal Familial Ventricular Fibrillation

Hyperekplexia

Hereditary Hyperekplexia

Kok Disease

Congenital Stiff Man Syndrome

Familial Startle Disease

Sthe

Stiff-Baby Syndrome

Hereditary Hyperexplexia

Startle Disease

Exaggerated Startle Reaction

Hyperexplexia Hereditary

Startle Disease, Familial

Startle Reaction, Exaggerated

Stiff-Man Syndrome, Congenital

Stiff-Person Syndrome, Congenital

Congenital Stiff-Man Syndrome

Congenital Stiff-Person Syndrome

Familial Hyperekplexia

Startle Syndrome

Stiff Baby Syndrome

Hyperekplexia, Hereditary

Stiff-Person 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

Paroxysmal Extreme Pain Disorder

PEPD

Familial Rectal Pain

Pexpd

Submandibular, Ocular, And Rectal Pain With Flushing

Pain, Submandibular, Ocular, And Rectal, With Flushing

Rectal Pain, Familial

Submandibular, Ocular And Rectal Pain With Flushing

Familial Rectal Syndrome

Frp

Pain Disorder, Paroxysmal, Extreme

Long Qt Syndrome 2

LQT2

Long Qt Syndrome, Acquired, Reduced Susceptibility To

Long Qt Syndrome 1/2

Long Qt Syndrome 2/3

Long Qt Syndrome 2/5

Long Qt Syndrome 2, Acquired, Susceptibility To

Long Qt Syndrome, Acquired, Reduced

Long Qt Syndrome Type 2

Long Qt Syndrome 2/9

Lqt1/2

Lqt2/3

Lqt2/5

Lqt2/9

Susceptibility To Acquired Long Qt Syndrome 2

Long Qt Syndrome-2

Qt Syndrome, Long, Type 2

Long Qt Syndrome 1-2

Long Qt Syndrome 2-3

Long Qt Syndrome 2-5

Long Qt Syndrome 9

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

Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

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 KCND2 RGD RGD:68393
Mus musculus KCND2 MGD MGI:102663
Bos taurus KCND2 VGNC VGNC:30435
Felis catus KCND2 VGNC VGNC:102619
Macaca mulatta KCND2 VGNC VGNC:73976