KCNAB2 - potassium voltage-gated channel subfamily A regulatory beta subunit 2 Gene

Homo sapiens

Also known as AKR6A5; KCNA2B; HKvbeta2; KV-BETA-2; HKvbeta2.1; HKvbeta2.2

Gene ID: 8514 | Gene type: protein coding

About KCNAB2

Cytogenetic location: 1p36.31 Genomic coordinates (GRCh38): 1:5,992,676-6,101,180 (from NCBI)

This gene has 48 transcripts (splice variants), 279 orthologues, 16 paralogues and is associated with 1 phenotype. Broad expression in brain (RPKM 17.0), bone marrow (RPKM 11.9) and 17 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, shaker-related subfamily. This member is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. This member alters functional properties of the KCNA4 gene product. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2010]

KCNAB2 Products(6)

mRNA	Protein	Name
NM_001199860.2	NP_001186789.1	voltage-gated potassium channel subunit beta-2 isoform 1
NM_001199861.2	NP_001186790.1	voltage-gated potassium channel subunit beta-2 isoform 1
NM_001199862.2	NP_001186791.1	voltage-gated potassium channel subunit beta-2 isoform 3
NM_001199863.2	NP_001186792.1	voltage-gated potassium channel subunit beta-2 isoform 4
NM_003636.4	NP_003627.1	voltage-gated potassium channel subunit beta-2 isoform 1
NM_172130.3	NP_742128.1	voltage-gated potassium channel subunit beta-2 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables potassium channel regulator activity	IDA IDA: Inferred from direct assay	7649300	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21357749	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in regulation of potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	7649300	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in juxtaparanode region of axon	IDA IDA: Inferred from direct assay	11086297	GOA
located in membrane	IDA IDA: Inferred from direct assay	11086297	GOA
part of voltage-gated potassium channel complex	IDA IDA: Inferred from direct assay	11086297	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

KCNAB2 Protein Structure

Aldo_ket_red

0
100
200
300
367 a.a.

Protein Preferred Names

Protein Names

voltage-gated potassium channel subunit beta-2

K(+) channel subunit beta-2

KCNAB2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	KCNAB2	Q13303	KCNA2	Homo sapiens	P16389	Anti Bait CoIP	21357749

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

Partial Trisomy Distal 4q

Distal Trisomy 4q	Chromosome 4, Partial Trisomy 4q
Distal 4q Trisomy	Dup Syndrome, Partial
Duplication 4q Syndrome, Partial	Partial Trisomy 4q Syndrome
Distal Duplication 4q	Telomeric Duplication 4q
Trisomy 4qter

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]

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

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

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-RS07104	KCNAB2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	KCNAB2	MGD	MGI:109239
Macaca mulatta	KCNAB2	VGNC	VGNC:73967
Rattus norvegicus	KCNAB2	RGD	RGD:61828
Felis catus	KCNAB2	VGNC	VGNC:67895
Bos taurus	KCNAB2	VGNC	VGNC:30428
Canis familiaris	KCNAB2	VGNC	VGNC:42234

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