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

    Gene ID: 8514, updated on 8-Jul-2021

    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
    NEW
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    Genomic context

    See KCNAB2 in Genome Data Viewer
    Location:
    1p36.31
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (5992639..6101186)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (6052736..6161240)

    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

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    GeneReviews: Not available

    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
    enables D-threo-aldose 1-dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables aldo-keto reductase (NADP) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables aldo-keto reductase (NADP) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables potassium channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    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
    PubMed 
    involved_in regulation of potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in extrinsic component of cytoplasmic side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extrinsic component of cytoplasmic side of plasma membrane 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
    PubMed 
    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
    PubMed 
    part_of 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)

    NEW Try the new Transcript table

    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_001199860.2NP_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
      cd19141
      Location:38347
      Aldo_ket_red_shaker; Shaker potassium channel beta subunit (AKR6A) family of aldo-keto reductase (AKR)
    2. NM_001199861.2NP_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
      cd19141
      Location:38347
      Aldo_ket_red_shaker; Shaker potassium channel beta subunit (AKR6A) family of aldo-keto reductase (AKR)
    3. NM_001199862.2NP_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_001199863.2NP_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_003636.4NP_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
      cd19141
      Location:38347
      Aldo_ket_red_shaker; Shaker potassium channel beta subunit (AKR6A) family of aldo-keto reductase (AKR)
    6. NM_172130.3NP_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
      cd19141
      Location:25333
      Aldo_ket_red_shaker; Shaker potassium channel beta subunit (AKR6A) family of aldo-keto reductase (AKR)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    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_005263514.3XP_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
      ENSP00000499370.1, ENST00000666163.1
      Conserved Domains (1) summary
      cd19141
      Location:25333
      Aldo_ket_red_shaker; Shaker potassium channel beta subunit (AKR6A) family of aldo-keto reductase (AKR)
    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
      Related
      ENSP00000499361.1, ENST00000668559.1
      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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