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

Also Known as RK5; KV4.2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3751

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables A-type (transient outward) potassium channel activity	IDA IDA: Inferred from direct assay	10551270	GOA
enables A-type (transient outward) potassium channel activity	IMP IMP: Inferred from mutant phenotype	15454437	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10551270	GOA
enables voltage-gated potassium channel activity	IDA IDA: Inferred from direct assay	24811166	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in action potential	IDA IDA: Inferred from direct assay	14980201	GOA
involved in membrane repolarization	IDA IDA: Inferred from direct assay	14980201	GOA
involved in muscle contraction	IDA IDA: Inferred from direct assay	11287421	GOA
involved in potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	10551270	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of Kv4.2-KChIP2 channel complex	IPI IPI: Inferred from physical interaction	14980201	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	10551270	GOA
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	15454437	GOA
part of voltage-gated potassium channel complex	IDA IDA: Inferred from direct assay	15454437	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

KCND2 Protein Structure

Shal-type

BTB_2

Ion_trans

DUF3399

0
100
200
300
400
500
600
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

KCND2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KCND2	Q9NZV8	KCNIP2	Homo sapiens	Q9NS61	EM	14980201
Intra	KCND2	Q9NZV8	KCNIP2	Homo sapiens	Q9NS61	Density Sedimentation	14623880
Intra	KCND2	Q9NZV8	KCNIP2	Homo sapiens	Q9NS61-3	Pull Down	15358149
Intra	KCND2	Q9NZV8	KCNIP1	Homo sapiens	Q9NZI2	Pull Down	15358149

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07113	KCND2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21609	Kcnd2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28127	Kcnd2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	KCND2	NCBI