KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNAB2provided by HGNC
Official Full Name: potassium voltage-gated channel subfamily A regulatory beta subunit 2provided by HGNC
Primary source: HGNC:HGNC:6229
See related: Ensembl:ENSG00000069424 MIM:601142
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AKR6A5; KCNA2B; HKvbeta2; KV-BETA-2; HKvbeta2.1; HKvbeta2.2
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]
Expression: Broad expression in brain (RPKM 17.0), bone marrow (RPKM 11.9) and 17 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 1p36.31

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	1	NC_000001.11 (5992298..6101193)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (6052358..6161253)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

The results show that KvBeta 2 dysregulation of Kv4.3 is involved in the pathogenesis of Brugada Syndrome. This new finding also expands the list of genes associated with susceptibility to BrS and may contribute to improve molecular diagnosis of this cardiac arrhythmia disorder.
Title: Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome.
Results identified gain and loss of function mutations which lead to increased and decreased potassium currents enhancing AF.
Title: Genetic variation in KCNA5: impact on the atrial-specific potassium current IKur in patients with lone atrial fibrillation.
Incretin regulation of beta-cell function involves the acetylation of Kv beta2.
Title: Incretin-stimulated interaction between β-cell Kv1.5 and Kvβ2 channel proteins involves acetylation/deacetylation by CBP/SirT1.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Description
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

Go to the top of the page Help

Immune System, organism-specific biosystem (from REACTOME)
Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
Innate Immune System, organism-specific biosystem (from REACTOME)
Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
Metapathway biotransformation, organism-specific biosystem (from WikiPathways)
Metapathway biotransformation, organism-specific biosystem
Metapathway biotransformation
Neuronal System, organism-specific biosystem (from REACTOME)
Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
Neutrophil degranulation, organism-specific biosystem (from REACTOME)
Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
Potassium Channels, organism-specific biosystem (from REACTOME)
Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
Voltage gated Potassium channels, organism-specific biosystem (from REACTOME)
Voltage gated Potassium channels, organism-specific biosystemVoltage-gated K+ channels (Kv) determine the excitability of heart, brain and skeletal muscle cells. Kv form octameric channel with alpha subunits that forms the pore of the channel and associated be...

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

SHGC-74152 (e-PCR)
- UniSTS:49976

NoName (e-PCR)
- UniSTS:495171

G34855 (e-PCR)
- UniSTS:9304

G16215 (e-PCR)
- UniSTS:21899

SHGC-74145 (e-PCR)
- UniSTS:52403

KCNAB2_2542 (e-PCR)
- UniSTS:280796

Homology

Homologs of the KCNAB2 gene: The KCNAB2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 197 organisms have orthologs with human gene KCNAB2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
aldo-keto reductase (NADP) activity	ISS Inferred from Sequence or Structural Similarity more info
potassium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
voltage-gated potassium channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
NADPH oxidation	ISS Inferred from Sequence or Structural Similarity more info
hematopoietic progenitor cell differentiation	IEA Inferred from Electronic Annotation more info
neuromuscular process	IEA Inferred from Electronic Annotation more info
neutrophil degranulation	TAS Traceable Author Statement more info
oxidation-reduction process	ISS Inferred from Sequence or Structural Similarity more info
potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
regulation of potassium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
regulation of protein localization to cell surface	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
axon terminus	IEA Inferred from Electronic Annotation more info
cell junction	IEA Inferred from Electronic Annotation more info
cytosol	ISS Inferred from Sequence or Structural Similarity more info
extrinsic component of cytoplasmic side of plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
juxtaparanode region of axon	IDA Inferred from Direct Assay more info	PubMed
juxtaparanode region of axon	ISS Inferred from Sequence or Structural Similarity more info
membrane	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with microtubule	ISS Inferred from Sequence or Structural Similarity more info
pinceau fiber	ISS Inferred from Sequence or Structural Similarity more info
plasma membrane	TAS Traceable Author Statement more info
postsynaptic density	IEA Inferred from Electronic Annotation more info
specific granule membrane	TAS Traceable Author Statement more info
tertiary granule membrane	TAS Traceable Author Statement more info
voltage-gated potassium channel complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: voltage-gated potassium channel subunit beta-2

Names: K(+) channel subunit beta-2; potassium channel, voltage gated subfamily A regulatory beta subunit 2; potassium voltage-gated channel, shaker-related subfamily, beta member 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_047091.1 RefSeqGene

Range

5001..113896

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001199860.1 → NP_001186789.1 voltage-gated potassium channel subunit beta-2 isoform 1

See identical proteins and their annotated locations for NP_001186789.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has an alternate 5' UTR exon and encodes the same isoform 1, as compared to variant 1.

Source sequence(s)

AK124696, AL035406, AW327942

Consensus CDS

CCDS55.1

UniProtKB/Swiss-Prot

Q13303

UniProtKB/TrEMBL

A0A024R4E3

Related

ENSP00000164247.1, ENST00000164247.5

Conserved Domains (1) summary

TIGR01293
Location:39 → 355

Kv_beta; voltage-dependent potassium channel beta subunit, animal
NM_001199861.1 → NP_001186790.1 voltage-gated potassium channel subunit beta-2 isoform 1

See identical proteins and their annotated locations for NP_001186790.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) has an alternate 5' UTR exon and encodes the same isoform 1, as compared to variant 1.

Source sequence(s)

AK289819, AL035406, AW327942

Consensus CDS

CCDS55.1

UniProtKB/Swiss-Prot

Q13303

UniProtKB/TrEMBL

A0A024R4E3

Related

ENSP00000367337.1, ENST00000378097.5

Conserved Domains (1) summary

TIGR01293
Location:39 → 355

Kv_beta; voltage-dependent potassium channel beta subunit, animal
NM_001199862.1 → NP_001186791.1 voltage-gated potassium channel subunit beta-2 isoform 3

See identical proteins and their annotated locations for NP_001186791.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks three exons from the 5' end and contains two alternate 5' exons and an additional internal in-frame exon, as compared to variant 1. The resulting isoform (3) has a longer and distinct N-terminus and an additional internal segment, as compared to isoform 1.

Source sequence(s)

AK131252, AL035406, AW327942

Consensus CDS

CCDS55570.1

UniProtKB/Swiss-Prot

Q13303

Related

ENSP00000367323.3, ENST00000378083.7

Conserved Domains (1) summary

TIGR01293
Location:72 → 403

Kv_beta; voltage-dependent potassium channel beta subunit, animal
NM_001199863.1 → NP_001186792.1 voltage-gated potassium channel subunit beta-2 isoform 4

See identical proteins and their annotated locations for NP_001186792.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks three exons from the 5' end and contains an alternate 5' exon, resulting in a downstream AUG start codon, as compared to variant 1. The resulting isoform (4) has a shorter N-terminus, as compared to isoform 1.

Source sequence(s)

AK315858, AL035406, AW327942

Consensus CDS

CCDS55571.1

UniProtKB/Swiss-Prot

Q13303

Related

ENSP00000396167.2, ENST00000458166.6

Conserved Domains (1) summary

TIGR01293
Location:1 → 288

Kv_beta; voltage-dependent potassium channel beta subunit, animal
NM_003636.3 → NP_003627.1 voltage-gated potassium channel subunit beta-2 isoform 1

See identical proteins and their annotated locations for NP_003627.1

Status: REVIEWED

Description

Transcript Variant: This variant (1), also known as HKvbeta2.1, encodes the longer isoform (1).

Source sequence(s)

AL035406, AW327942, BC126424, DA340179

Consensus CDS

CCDS55.1

UniProtKB/Swiss-Prot

Q13303

UniProtKB/TrEMBL

A0A024R4E3

Related

ENSP00000340824.1, ENST00000341524.5

Conserved Domains (1) summary

TIGR01293
Location:39 → 355

Kv_beta; voltage-dependent potassium channel beta subunit, animal
NM_172130.2 → NP_742128.1 voltage-gated potassium channel subunit beta-2 isoform 2

See identical proteins and their annotated locations for NP_742128.1

Status: REVIEWED

Description

Transcript Variant: This variant (2), also known as HKvbeta2.2, lacks an in-frame exon in the coding region, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.

Source sequence(s)

AF044253, AK312871, AL035406, AW327942, DA340179

Consensus CDS

CCDS56.1

UniProtKB/Swiss-Prot

Q13303

UniProtKB/TrEMBL

B2R776

Related

ENSP00000318772.1, ENST00000352527.5

Conserved Domains (1) summary

TIGR01293
Location:25 → 341

Kv_beta; voltage-dependent potassium channel beta subunit, animal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p12 Primary Assembly

Range

5992298..6101193

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005263514.3 → XP_005263571.1 voltage-gated potassium channel subunit beta-2 isoform X4

See identical proteins and their annotated locations for XP_005263571.1

UniProtKB/Swiss-Prot

Q13303

Related

ENSP00000367332.1, ENST00000378092.5

Conserved Domains (1) summary

TIGR01293
Location:25 → 341

Kv_beta; voltage-dependent potassium channel beta subunit, animal
XM_011542321.3 → XP_011540623.1 voltage-gated potassium channel subunit beta-2 isoform X3

See identical proteins and their annotated locations for XP_011540623.1

UniProtKB/Swiss-Prot

Q13303

Conserved Domains (1) summary

TIGR01293
Location:39 → 339

Kv_beta; voltage-dependent potassium channel beta subunit, animal
XM_017002619.1 → XP_016858108.1 voltage-gated potassium channel subunit beta-2 isoform X1
XM_017002621.2 → XP_016858110.1 voltage-gated potassium channel subunit beta-2 isoform X5
XM_017002618.2 → XP_016858107.1 voltage-gated potassium channel subunit beta-2 isoform X1
XM_011542322.2 → XP_011540624.1 voltage-gated potassium channel subunit beta-2 isoform X3

See identical proteins and their annotated locations for XP_011540624.1

UniProtKB/Swiss-Prot

Q13303

Related

ENSP00000473602.1, ENST00000602612.5

Conserved Domains (1) summary

TIGR01293
Location:39 → 339

Kv_beta; voltage-dependent potassium channel beta subunit, animal
XM_017002620.1 → XP_016858109.1 voltage-gated potassium channel subunit beta-2 isoform X2

Conserved Domains (2) summary

cd06660
Location:72 → 387

Aldo_ket_red; Aldo-keto reductases (AKRs) are a superfamily of soluble NAD(P)(H) oxidoreductases whose chief purpose is to reduce aldehydes and ketones to primary and secondary alcohols. AKRs are present in all phyla and are of importance to both health and industrial ...

TIGR01293
Location:72 → 388

Kv_beta; voltage-dependent potassium channel beta subunit, animal