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

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8514

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	References	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	References	Source
involved in regulation of potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	7649300	GOA

Cellular Component GO Annotation	Evidence	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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
Others	KCNAB2	NCBI