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; AllianceGenome:HGNC:6229
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
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Genomic context

Location:: 1p36.31

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (5992676..6101180)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (5518502..5626866)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (6052736..6161240)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Ion Channel Gene KCNAB2 Is Associated with Poor Prognosis and Loss of Immune Infiltration in Lung Adenocarcinoma.
Title: The Ion Channel Gene KCNAB2 Is Associated with Poor Prognosis and Loss of Immune Infiltration in Lung Adenocarcinoma.
Role of KCNAB2 expression in modulating hormone secretion in somatotroph pituitary adenoma.
Title: Role of KCNAB2 expression in modulating hormone secretion in somatotroph pituitary adenoma.
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.

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables aldo-keto reductase (NADPH) activity	IBA Inferred from Biological aspect of Ancestor more info
enables aldo-keto reductase (NADPH) activity	ISS Inferred from Sequence or Structural Similarity more info
enables potassium channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	IBA Inferred from Biological aspect of Ancestor more info
enables voltage-gated potassium channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in NADPH oxidation	ISS Inferred from Sequence or Structural Similarity more info
involved_in potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of potassium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein localization to cell surface	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasmic side of plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
is_active_in juxtaparanode region of axon	IBA Inferred from Biological aspect of Ancestor more info
located_in juxtaparanode region of axon	IDA Inferred from Direct Assay more info	PubMed
located_in juxtaparanode region of axon	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with microtubule	ISS Inferred from Sequence or Structural Similarity more info
located_in pinceau fiber	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in specific granule membrane	TAS Traceable Author Statement more info
located_in synapse	IEA Inferred from Electronic Annotation more info
located_in tertiary granule membrane	TAS Traceable Author Statement more info
part_of voltage-gated potassium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated potassium channel complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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

NP_001186789.1

EC 1.1.1.-

NP_001186790.1

EC 1.1.1.-

NP_001186791.1

EC 1.1.1.-

NP_001186792.1

EC 1.1.1.-

NP_003627.1

EC 1.1.1.-

NP_742128.1

EC 1.1.1.-

XP_005263571.1

EC 1.1.1.-

XP_011540623.1

EC 1.1.1.-

XP_011540624.1

EC 1.1.1.-

XP_016858109.1

EC 1.1.1.-

XP_047288822.1

EC 1.1.1.-

XP_047288823.1

EC 1.1.1.-

XP_047288826.1

EC 1.1.1.-

XP_047288828.1

EC 1.1.1.-

XP_047288834.1

EC 1.1.1.-

XP_054195268.1

EC 1.1.1.-

XP_054195269.1

EC 1.1.1.-

XP_054195270.1

EC 1.1.1.-

XP_054195271.1

EC 1.1.1.-

XP_054195272.1

EC 1.1.1.-

XP_054195273.1

EC 1.1.1.-

XP_054195274.1

EC 1.1.1.-

XP_054195275.1

EC 1.1.1.-

NCBI Reference Sequences (RefSeq)

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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

58591..113883

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001199860.2 → 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

A0AVM9, A8K1A4, B0AZR7, O43659, Q13303, Q2YD85, Q5TG82, Q5TG83, Q6ZNE4, Q99411

UniProtKB/TrEMBL

A8K1X9, B2R615

Related

ENSP00000164247.1, ENST00000164247.5

Conserved Domains (1) summary

cd19141
Location:38 → 347

Aldo_ket_red_shaker; Shaker potassium channel beta subunit (AKR6A) family of aldo-keto reductase (AKR)
NM_001199861.2 → 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

A0AVM9, A8K1A4, B0AZR7, O43659, Q13303, Q2YD85, Q5TG82, Q5TG83, Q6ZNE4, Q99411

UniProtKB/TrEMBL

A8K1X9, B2R615

Related

ENSP00000367337.1, ENST00000378097.6

Conserved Domains (1) summary

cd19141
Location:38 → 347

Aldo_ket_red_shaker; Shaker potassium channel beta subunit (AKR6A) family of aldo-keto reductase (AKR)
NM_001199862.2 → 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/TrEMBL

B2R776

Related

ENSP00000367323.3, ENST00000378083.8

Conserved Domains (1) summary

TIGR01293
Location:72 → 403

Kv_beta; voltage-dependent potassium channel beta subunit, animal
NM_001199863.2 → 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/TrEMBL

B0AZM0

Related

ENSP00000396167.2, ENST00000458166.6

Conserved Domains (1) summary

TIGR01293
Location:1 → 288

Kv_beta; voltage-dependent potassium channel beta subunit, animal
NM_003636.4 → 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

A0AVM9, A8K1A4, B0AZR7, O43659, Q13303, Q2YD85, Q5TG82, Q5TG83, Q6ZNE4, Q99411

UniProtKB/TrEMBL

A8K1X9, B2R615

Related

ENSP00000400285.2, ENST00000428161.7

Conserved Domains (1) summary

cd19141
Location:38 → 347

Aldo_ket_red_shaker; Shaker potassium channel beta subunit (AKR6A) family of aldo-keto reductase (AKR)
NM_172130.3 → 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

Consensus CDS

CCDS56.1

UniProtKB/TrEMBL

B2R776

Related

ENSP00000318772.1, ENST00000352527.6

Conserved Domains (1) summary

cd19141
Location:25 → 333

Aldo_ket_red_shaker; Shaker potassium channel beta subunit (AKR6A) family of aldo-keto reductase (AKR)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

5992676..6101180

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047432866.1 → XP_047288822.1 voltage-gated potassium channel subunit beta-2 isoform X2
XM_047432870.1 → XP_047288826.1 voltage-gated potassium channel subunit beta-2 isoform X3

UniProtKB/Swiss-Prot

A0AVM9, A8K1A4, B0AZR7, O43659, Q13303, Q2YD85, Q5TG82, Q5TG83, Q6ZNE4, Q99411

Related

ENSP00000499496.1, ENST00000671676.1
XM_047432872.1 → XP_047288828.1 voltage-gated potassium channel subunit beta-2 isoform X4
XM_011542321.4 → XP_011540623.1 voltage-gated potassium channel subunit beta-2 isoform X2

See identical proteins and their annotated locations for XP_011540623.1

UniProtKB/TrEMBL

A0A590UJJ4

Related

ENSP00000499361.1, ENST00000668559.1

Conserved Domains (1) summary

TIGR01293
Location:39 → 339

Kv_beta; voltage-dependent potassium channel beta subunit, animal
XM_005263514.4 → XP_005263571.1 voltage-gated potassium channel subunit beta-2 isoform X4

See identical proteins and their annotated locations for XP_005263571.1

UniProtKB/TrEMBL

B2R776

Related

ENSP00000499370.1, ENST00000666163.1

Conserved Domains (1) summary

cd19141
Location:25 → 333

Aldo_ket_red_shaker; Shaker potassium channel beta subunit (AKR6A) family of aldo-keto reductase (AKR)
XM_047432878.1 → XP_047288834.1 voltage-gated potassium channel subunit beta-2 isoform X5

Related

ENSP00000367351.2, ENST00000378111.6
XM_011542322.3 → XP_011540624.1 voltage-gated potassium channel subunit beta-2 isoform X2

See identical proteins and their annotated locations for XP_011540624.1

UniProtKB/TrEMBL

A0A590UJJ4

Related

ENSP00000473602.1, ENST00000602612.5

Conserved Domains (1) summary

TIGR01293
Location:39 → 339

Kv_beta; voltage-dependent potassium channel beta subunit, animal
XM_047432867.1 → XP_047288823.1 voltage-gated potassium channel subunit beta-2 isoform X3

UniProtKB/Swiss-Prot

A0AVM9, A8K1A4, B0AZR7, O43659, Q13303, Q2YD85, Q5TG82, Q5TG83, Q6ZNE4, Q99411

Related

ENSP00000367332.2, ENST00000378092.6
XM_017002620.2 → XP_016858109.1 voltage-gated potassium channel subunit beta-2 isoform X1

UniProtKB/TrEMBL

B0AZM0

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

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

5518502..5626866

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054339296.1 → XP_054195271.1 voltage-gated potassium channel subunit beta-2 isoform X2
XM_054339298.1 → XP_054195273.1 voltage-gated potassium channel subunit beta-2 isoform X3

UniProtKB/Swiss-Prot

A0AVM9, A8K1A4, B0AZR7, O43659, Q13303, Q2YD85, Q5TG82, Q5TG83, Q6ZNE4, Q99411
XM_054339300.1 → XP_054195275.1 voltage-gated potassium channel subunit beta-2 isoform X4
XM_054339294.1 → XP_054195269.1 voltage-gated potassium channel subunit beta-2 isoform X2
XM_054339299.1 → XP_054195274.1 voltage-gated potassium channel subunit beta-2 isoform X4
XM_054339295.1 → XP_054195270.1 voltage-gated potassium channel subunit beta-2 isoform X2
XM_054339297.1 → XP_054195272.1 voltage-gated potassium channel subunit beta-2 isoform X3

UniProtKB/Swiss-Prot

A0AVM9, A8K1A4, B0AZR7, O43659, Q13303, Q2YD85, Q5TG82, Q5TG83, Q6ZNE4, Q99411
XM_054339293.1 → XP_054195268.1 voltage-gated potassium channel subunit beta-2 isoform X1