KCNB1 - potassium voltage-gated channel subfamily B member 1 Gene

Homo sapiens

Also known as DRK1; DEE26; Kv2.1

Gene ID: 3745 | Gene type: protein coding

About KCNB1

Cytogenetic location: 20q13.13 Genomic coordinates (GRCh38): 20:49,363,877-49,483,362 (from NCBI)

This gene has 9 transcripts (splice variants), 268 orthologues, 31 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 9.2), fat (RPKM 8.5) and 6 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, shab-related subfamily. This member is a delayed rectifier Potassium Channel and its activity is modulated by some other family members. [provided by RefSeq, Jul 2008]

KCNB1 Products(1)

mRNA	Protein	Name
NM_004975.4	NP_004966.1	potassium voltage-gated channel subfamily B member 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables delayed rectifier potassium channel activity	IDA IDA: Inferred from direct assay	1283219	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10484328	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	19074135	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in action potential	IDA IDA: Inferred from direct assay	19223394	GOA
involved in positive regulation of protein targeting to membrane	IDA IDA: Inferred from direct assay	19074135	GOA
involved in potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	19074135	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	19223394	GOA
part of voltage-gated potassium channel complex	IDA IDA: Inferred from direct assay	19074135	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

KCNB1 Protein Structure

BTB_2

Ion_trans

Kv2channel

0
200
400
600
800
858 a.a.

Protein Preferred Names

Protein Names

potassium voltage-gated channel subfamily B member 1

delayed rectifier potassium channel 1

Related Diseases

Diseases

Alias

Developmental And Epileptic Encephalopathy 26

DEE26	Epileptic Encephalopathy, Early Infantile, 26
Eiee26	Early Infantile Epileptic Encephalopathy 26
Developmental And Epileptic Encephalopathy, 26	Encephalopathy, Epileptic, Early Infantile, Type 26

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

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

Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy	Non-Specific Eoee
Undetermined Eoee

Retinal Cone Dystrophy 3b

RCD3B	Cone Dystrophy With Supernormal Rod Response
Cone Dystrophy With Supernormal Rod Electroretinogram	Cone Dystrophy With Supernormal Rod Responses
Cdsrr	Cone Dystrophy With Night Blindness And Supernormal Rod Responses, Kcnv2-Related
Cone Dystrophy With Night Blindness And Supernormal Rod Responses Kcnv2 Related	Cone Dystrophy With Supernormal Rod Erg
Cone Dystrophy With Supernormal Scotopic Electroretinogram	Cone Dystrophy Retinal 3b
Cone Dystrophy With Night Blindness And Supernormal Rod Responses Kcnv2-Related	Doid:0081022
Dystrophy, Retinal Cone, Type 3b

Developmental And Epileptic Encephalopathy 38

DEE38	Epileptic Encephalopathy, Early Infantile, 38
Eiee38	Developmental And Epileptic Encephalopathy, 38
Glycosylphosphatidylinositol Biosynthesis Defect 23	Gpibd23
Early Infantile Epileptic Encephalopathy 38

Ischemia

Acute Coronary Syndrome

Blastomycosis

Gilchrist'S Disease	North American Blastomycosis
Blastomyces Dermatitidis Infection	Blastomycotic Infection
Infection By Blastomyces Dermatitidis	Gilchrist Disease
Chicago Disease	Chicago Disease Or Disorder
Blastomycosis, Unspecified	Blastomyces Infection

Diamond-Blackfan Anemia 3

DBA3	Anemia, Diamond-Blackfan, 3
Rps24-Related Diamond-Blackfan Anemia	Anemia Diamond-Blackfan 3
Anemia, Diamond-Blackfan, Type 3

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

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

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

Neonatal Period Electroclinical Syndrome

Lennox-Gastaut Syndrome

Lennox Syndrome	Encephalopathy Of Childhood
Epileptic Encephalopathy Lennox-Gastaut Type	Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves
Lgs

Erythromelalgia

Primary Erythromelalgia	Erythermalgia
Primary Erythermalgia	Mitchell Disease
Familial Erythromelalgia

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

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

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

Long Qt Syndrome

Romano-Ward Syndrome	Long Q-T Syndrome
Lqt	Qt Syndrome, Long
Congenital Long Qt Syndrome	Familial Long Qt 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

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

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]

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07106	KCNB1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	KCNB1	RGD	RGD:2954
Mus musculus	KCNB1	MGD	MGI:96666
Bos taurus	KCNB1	VGNC	VGNC:30430
Canis familiaris	KCNB1	VGNC	VGNC:42235
Felis catus	KCNB1	VGNC	VGNC:67897
Macaca mulatta	KCNB1	VGNC	VGNC:73969

Name
Email *

	Sorry, but the email address you supplied was invalid.