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    KCNMB2 potassium calcium-activated channel subfamily M regulatory beta subunit 2 [ Homo sapiens (human) ]

    Gene ID: 10242, updated on 28-Oct-2024

    Summary

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    Official Symbol
    KCNMB2provided by HGNC
    Official Full Name
    potassium calcium-activated channel subfamily M regulatory beta subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:6286
    See related
    Ensembl:ENSG00000197584 MIM:605214; AllianceGenome:HGNC:6286
    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
    Summary
    MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which decreases the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants of this gene. Additional variants are discussed in the literature, but their full length nature has not been described. [provided by RefSeq, Jul 2013]
    Expression
    Biased expression in ovary (RPKM 5.5), adrenal (RPKM 2.4) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KCNMB2 in Genome Data Viewer
    Location:
    3q26.32
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (178536436..178844429)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (181339687..181648252)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (178254224..178562217)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1014 Neighboring gene RNA, 5S ribosomal pseudogene 148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20852 Neighboring gene peptidylprolyl isomerase A pseudogene 75 Neighboring gene KCNMB2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20855 Neighboring gene MPRA-validated peak4947 silencer Neighboring gene uncharacterized LOC124909461 Neighboring gene NANOG hESC enhancer GRCh37_chr3:178545086-178545618 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:178578153-178578979 Neighboring gene uncharacterized LOC124906307 Neighboring gene MPRA-validated peak4949 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20856 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14909 Neighboring gene zinc finger matrin-type 3

    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 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. NMR structure of the "ball-and-chain" domain of KCNMB2, the beta 2-subunit of large conductance Ca2+- and voltage-activated potassium channels. Bentrop D, et al. J Biol Chem, 2001 Nov 9. PMID 11517232
    2. Inactivation of BK channels by the NH2 terminus of the beta2 auxiliary subunit: an essential role of a terminal peptide segment of three hydrophobic residues. Xia XM, et al. J Gen Physiol, 2003 Feb. PMID 12566540, Free PMC Article
    3. Novel spliced variants of large-conductance Ca(2+)-activated K(+)-channel β2-subunit in human and rodent pancreas. Ohya S, et al. J Pharmacol Sci, 2010. PMID 20859064
    4. Molecular basis of fast inactivation in voltage and Ca2+-activated K+ channels: a transmembrane beta-subunit homolog. Wallner M, et al. Proc Natl Acad Sci U S A, 1999 Mar 30. PMID 10097176, Free PMC Article
    5. Cloning and functional expression of two families of beta-subunits of the large conductance calcium-activated K+ channel. Uebele VN, et al. J Biol Chem, 2000 Jul 28. PMID 10766764

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. IFN-gamma changed mRNA levels of the BK beta-modulatory proteins KCNMB2 (increased) and KCNMB4 (decreased) as well as leucine-rich repeat-containing protein (LRRC)26 (decreased).
      Title: IFN-γ-mediated reduction of large-conductance, Ca2+-activated, voltage-dependent K+ (BK) channel activity in airway epithelial cells leads to mucociliary dysfunction.
    2. beta subunits of large-conductance calcium-dependent potassium channels modulate the interface between membrane-spanning and cytosolic domains.
      Title: The interface between membrane-spanning and cytosolic domains in Ca²+-dependent K+ channels is involved in β subunit modulation of gating.
    3. Report beta subunit (KNMB1-4)-specific modulations of BK channel function by a Slo1 mutation associated with epilepsy and dyskinesia.
      Title: {beta} subunit-specific modulations of BK channel function by a mutation associated with epilepsy and dyskinesia.
    4. reports that coexpression of beta2 subunit (KCNMB2) with hSlo can also modulate hSlo surface expression levels in HEK293T cells
      Title: Endocytic trafficking signals in KCNMB2 regulate surface expression of a large conductance voltage and Ca(2+)-activated K+ channel.
    5. significance of inactivation in BK channels mediated by beta subunits arises not from inactivation, but from differences in the amplitude and duration of repolarizing currents arising from the beta-subunit-specific energetics of recovery from inactivation
      Title: BK channels with beta3a subunits generate use-dependent slow afterhyperpolarizing currents by an inactivation-coupled mechanism.
    6. results reveal the molecular regions in the beta1 and beta2 subunits that determine their differential functional coupling with the pore-forming alpha-subunit
      Title: Structural determinants for functional coupling between the beta and alpha subunits in the Ca2+-activated K+ (BK) channel.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
    EBI GWAS Catalog
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog
    Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
    EBI GWAS Catalog
    Germline genomic variants associated with childhood acute lymphoblastic leukemia.
    EBI GWAS 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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 from both CCR5- and CXCR4-tropic HIV-1 strains opens calcium-activated potassium (K(Ca)), chloride, and calcium-permeant nonselective cation channels in macrophages; these signals are mediated by CCR5 and CXCR4 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC22431

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium-activated potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium-activated potassium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ion channel inhibitor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables potassium channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in action potential IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in detection of calcium ion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in detection of calcium ion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in neuronal action potential IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in potassium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in potassium ion transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of vasoconstriction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma 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
    calcium-activated potassium channel subunit beta-2
    Names
    BK channel beta subunit 2
    BK channel subunit beta-2
    MaxiK channel beta 2 subunit
    MaxiK channel beta-subunit 2
    big potassium channel beta subunit 2
    charybdotoxin receptor subunit beta-2
    hCG1646471
    hbeta2
    k(VCA)beta-2
    large conductance calcium-activated potassium channel beta 2 subunit
    large-conductance Ca2+-activated K+ channel beta2 subunit
    potassium channel subfamily M regulatory beta subunit 2
    potassium large conductance calcium-activated channel, subfamily M, beta member 2
    slo-beta-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.

    mRNA and Protein(s)

    1. NM_001278911.2 → NP_001265840.1  calcium-activated potassium channel subunit beta-2

      See identical proteins and their annotated locations for NP_001265840.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AB193524, AF209747, BF434939, BM983559
      Consensus CDS
      CCDS3223.1
      UniProtKB/Swiss-Prot
      Q9Y691
      UniProtKB/TrEMBL
      B5BNW5
      Related
      ENSP00000407592.1, ENST00000432997.5
      Conserved Domains (2) summary
      pfam03185
      Location:38 → 229
      CaKB; Calcium-activated potassium channel, beta subunit
      pfam09303
      Location:2 → 32
      KcnmB2_inactiv; KCNMB2, ball and chain domain

    2. NM_005832.5 → NP_005823.1  calcium-activated potassium channel subunit beta-2

      See identical proteins and their annotated locations for NP_005823.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AA904191, AF209747, AK298291, BF434939, BM983559
      Consensus CDS
      CCDS3223.1
      UniProtKB/Swiss-Prot
      Q9Y691
      UniProtKB/TrEMBL
      B5BNW5
      Conserved Domains (2) summary
      pfam03185
      Location:38 → 229
      CaKB; Calcium-activated potassium channel, beta subunit
      pfam09303
      Location:2 → 32
      KcnmB2_inactiv; KCNMB2, ball and chain domain

    3. NM_181361.3 → NP_852006.1  calcium-activated potassium channel subunit beta-2

      See identical proteins and their annotated locations for NP_852006.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AB193524, AF209747, BC017825, BF434939, BM983559
      Consensus CDS
      CCDS3223.1
      UniProtKB/Swiss-Prot
      Q9Y691
      UniProtKB/TrEMBL
      B5BNW5
      Related
      ENSP00000397483.1, ENST00000452583.6
      Conserved Domains (2) summary
      pfam03185
      Location:38 → 229
      CaKB; Calcium-activated potassium channel, beta subunit
      pfam09303
      Location:2 → 32
      KcnmB2_inactiv; KCNMB2, ball and chain domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      178536436..178844429
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512325.3 → XP_011510627.1  calcium-activated potassium channel subunit beta-2 isoform X1

      See identical proteins and their annotated locations for XP_011510627.1

      UniProtKB/Swiss-Prot
      Q9Y691
      UniProtKB/TrEMBL
      B5BNW5
      Related
      ENSP00000408252.2, ENST00000420517.6
      Conserved Domains (2) summary
      pfam03185
      Location:38 → 229
      CaKB; Calcium-activated potassium channel, beta subunit
      pfam09303
      Location:2 → 32
      KcnmB2_inactiv; KCNMB2, ball and chain domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      181339687..181648252
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344910.1 → XP_054200885.1  calcium-activated potassium channel subunit beta-2 isoform X1

      UniProtKB/Swiss-Prot
      Q9Y691
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y691.1 GenPept UniProtKB/Swiss-Prot:Q9Y691

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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