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

Also Known as DRK1; DEE26; Kv2.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3745

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	References	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	References	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	References	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

KCNB1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811177	Phospho-Kv2.1 (Ser805) Antibody	WB, ICC/IF	Human, Mouse, Rat

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

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 Set	/	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
Others	KCNB1	NCBI