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

Gene ID: 8514, updated on 8-Dec-2018

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

Genomic context

See KCNAB2 in Genome Data Viewer
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_000001.11Genomic Context describing neighboring genes Neighboring gene AJAP1-NPHP4 intergenic nontranscribed DNase I hypersensitive site-defined enhancer Neighboring gene microRNA 4689 Neighboring gene nephrocystin 4 Neighboring gene protein GVQW2-like Neighboring gene uncharacterized LOC105376687 Neighboring gene chromodomain helicase DNA binding protein 5

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • 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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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)

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
    5001..113896
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199860.1NP_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:39355
    Kv_beta; voltage-dependent potassium channel beta subunit, animal
  2. NM_001199861.1NP_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:39355
    Kv_beta; voltage-dependent potassium channel beta subunit, animal
  3. NM_001199862.1NP_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:72403
    Kv_beta; voltage-dependent potassium channel beta subunit, animal
  4. NM_001199863.1NP_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:1288
    Kv_beta; voltage-dependent potassium channel beta subunit, animal
  5. NM_003636.3NP_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:39355
    Kv_beta; voltage-dependent potassium channel beta subunit, animal
  6. NM_172130.2NP_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:25341
    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

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    5992298..6101193
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263514.3XP_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:25341
    Kv_beta; voltage-dependent potassium channel beta subunit, animal
  2. XM_011542321.3XP_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:39339
    Kv_beta; voltage-dependent potassium channel beta subunit, animal
  3. XM_017002619.1XP_016858108.1  voltage-gated potassium channel subunit beta-2 isoform X1

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

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

  6. XM_011542322.2XP_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:39339
    Kv_beta; voltage-dependent potassium channel beta subunit, animal
  7. XM_017002620.1XP_016858109.1  voltage-gated potassium channel subunit beta-2 isoform X2

    Conserved Domains (2) summary
    cd06660
    Location:72387
    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:72388
    Kv_beta; voltage-dependent potassium channel beta subunit, animal
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