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

Gene ID: 8514, updated on 19-Dec-2019

Summary

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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

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See KCNAB2 in Genome Data Viewer
Location:
1p36.31
Exon count:
21
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (5992639..6101186)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (6052358..6161253)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene microRNA 4689 Neighboring gene nephrocystin 4 Neighboring gene protein GVQW2-like Neighboring gene Sharpr-MPRA regulatory region 11871 Neighboring gene chromodomain helicase DNA binding protein 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome. Portero V, et al. J Am Heart Assoc, 2016 Jun 10. PMID 27287695, Free PMC Article
  2. Molecular basis of transient outward potassium current downregulation in human heart failure: a decrease in Kv4.3 mRNA correlates with a reduction in current density. Kääb S, et al. Circulation, 1998 Oct 6. PMID 9760292
  3. Localization of two potassium channel beta subunit genes, KCNA1B and KCNA2B. Schultz D, et al. Genomics, 1996 Feb 1. PMID 8838324
  4. Shaker K+ channel beta subunits belong to an NAD(P)H-dependent oxidoreductase superfamily. McCormack T, et al. Cell, 1994 Dec 30. PMID 8001150
  5. Genetic variation in KCNA5: impact on the atrial-specific potassium current IKur in patients with lone atrial fibrillation. Christophersen IE, et al. Eur Heart J, 2013 May. PMID 23264583

See all (30) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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

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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

NHGRI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC117289

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

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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

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

  1. NG_047091.1 RefSeqGene

    Range
    5379..113883
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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
    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

  2. 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
    Q13303
    UniProtKB/TrEMBL
    A0A024R4E3
    Related
    ENSP00000367337.1, ENST00000378097.6
    Conserved Domains (1) summary
    TIGR01293
    Location:39 → 355
    Kv_beta; voltage-dependent potassium channel beta subunit, animal

  3. 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/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

  4. 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/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

  5. 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
    Q13303
    UniProtKB/TrEMBL
    A0A024R4E3
    Related
    ENSP00000400285.2, ENST00000428161.6
    Conserved Domains (1) summary
    TIGR01293
    Location:39 → 355
    Kv_beta; voltage-dependent potassium channel beta subunit, animal

  6. 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/Swiss-Prot
    Q13303
    UniProtKB/TrEMBL
    B2R776
    Related
    ENSP00000318772.1, ENST00000352527.6
    Conserved Domains (1) summary
    TIGR01293
    Location:25 → 341
    Kv_beta; voltage-dependent potassium channel beta subunit, animal

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    5992639..6101186
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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
    ENSP00000499370.1, ENST00000666163.1
    Conserved Domains (1) summary
    TIGR01293
    Location:25 → 341
    Kv_beta; voltage-dependent potassium channel beta subunit, animal

  2. 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
    Related
    ENSP00000499361.1, ENST00000668559.1
    Conserved Domains (1) summary
    TIGR01293
    Location:39 → 339
    Kv_beta; voltage-dependent potassium channel beta subunit, animal

  3. XM_017002619.1 → XP_016858108.1  voltage-gated potassium channel subunit beta-2 isoform X1

  4. XM_017002621.2 → XP_016858110.1  voltage-gated potassium channel subunit beta-2 isoform X5

  5. XM_017002618.2 → XP_016858107.1  voltage-gated potassium channel subunit beta-2 isoform X1

  6. 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

  7. 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
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13303.2 GenPept UniProtKB/Swiss-Prot:Q13303

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