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    KCNMB3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 [ Homo sapiens (human) ]

    Gene ID: 27094, updated on 28-Oct-2024

    Summary

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    Official Symbol
    KCNMB3provided by HGNC
    Official Full Name
    potassium calcium-activated channel subfamily M regulatory beta subunit 3provided by HGNC
    Primary source
    HGNC:HGNC:6287
    See related
    Ensembl:ENSG00000171121 MIM:605222; AllianceGenome:HGNC:6287
    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
    HBETA3; KCNMB2; KCNMBL; BKBETA3; SLOBETA3; SLO-BETA-3; K(VCA)BETA-3
    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 may partially inactivate or slightly decrease the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 22. [provided by RefSeq, Jul 2009]
    Expression
    Ubiquitous expression in fat (RPKM 6.7), gall bladder (RPKM 6.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KCNMB3 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 (179239703..179267050, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (182043540..182070887, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (178957491..178984838, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene PIK3CA divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20860 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20861 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:178866509-178867008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14912 Neighboring gene small nucleolar RNA SNORA25 Neighboring gene phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14913 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:178905170-178905394 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:178980593-178981094 Neighboring gene LRR binding FLII interacting protein 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 12572 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:179008749-179009491 Neighboring gene CRISPRi-validated cis-regulatory element chr3.5052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20863 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20865 Neighboring gene zinc finger protein 639 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:179065206-179065735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14917 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20866 Neighboring gene mitofusin 1

    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. KCNMB3 in spinal microglia contributes to the generation and maintenance of neuropathic pain in mice. Imari K, et al. Int J Mol Med, 2019 Oct. PMID 31364720
    2. Rectification and rapid activation at low Ca2+ of Ca2+-activated, voltage-dependent BK currents: consequences of rapid inactivation by a novel beta subunit. Xia XM, et al. J Neurosci, 2000 Jul 1. PMID 10864947, Free PMC Article
    3. Inactivation of BK channels mediated by the NH(2) terminus of the beta3b auxiliary subunit involves a two-step mechanism: possible separation of binding and blockade. Lingle CJ, et al. J Gen Physiol, 2001 Jun. PMID 11382808, Free PMC Article
    4. Gating properties conferred on BK channels by the beta3b auxiliary subunit in the absence of its NH(2)- and COOH termini. Zeng XH, et al. J Gen Physiol, 2001 Jun. PMID 11382809, Free PMC Article
    5. Redox-sensitive extracellular gates formed by auxiliary beta subunits of calcium-activated potassium channels. Zeng XH, et al. Nat Struct Biol, 2003 Jun. PMID 12740608

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The results from the present study suggested that BK channels modulated the activation state of spinal microglia, and that KCNMB3 is a potential therapeutic target for neuropathic pain.
      Title: KCNMB3 in spinal microglia contributes to the generation and maintenance of neuropathic pain in mice.
    2. Single-nucleotide polymorphism in KCNMB3 gene is associated with Insulin Resistance.
      Title: Polyunsaturated Fatty Acids Modulate the Association between PIK3CA-KCNMB3 Genetic Variants and Insulin Resistance.
    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. The KCNMB3 isoforms beta3a-d may have unique functions in primates.
      Title: Species-specific Differences among KCNMB3 BK beta3 auxiliary subunits: some beta3 N-terminal variants may be primate-specific subunits.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy.
    6. The frequency of the delA750 mutation was significantly increased in idiopathic generalized epilepsy (7.9%) compared to that in the controls (5.5%; P = 0.016, one-sided; OR = 1.52; 95%-CI: 1.05-2.21).
      Title: Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    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

    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 potassium channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables potassium channel regulator activity NAS
    Non-traceable Author Statement
    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 
    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-3
    Names
    BK channel beta subunit 3
    BK channel subunit beta-3
    MaxiK channel beta-subunit 3
    big potassium channel beta subunit 3
    calcium-activated potassium channel regulatory subunit
    calcium-activated potassium channel, subfamily M subunit beta-3
    charybdotoxin receptor subunit beta-3
    large conductance, voltage and Ca2+ activated potassium channel Maxi K beta 3 subunit
    maxi K channel subunit beta-3
    potassium channel subfamily M regulatory beta subunit 3
    potassium large conductance calcium-activated channel, subfamily M beta member 3

    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_001163677.2 → NP_001157149.1  calcium-activated potassium channel subunit beta-3 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in both UTRs and in both the 5' and 3' coding regions, and uses an alternate translational start codon, compared to variant 4. The resulting isoform (e) has distinct N- and C-termini and is shorter than isoform d.
      Source sequence(s)
      AC007823, AC076966, AF160968, AI990131, AK304837
      Consensus CDS
      CCDS54683.1
      UniProtKB/Swiss-Prot
      Q9NPA1
      Related
      ENSP00000417091.1, ENST00000497599.5
      Conserved Domains (1) summary
      pfam03185
      Location:47 → 151
      CaKB; Calcium-activated potassium channel, beta subunit

    2. NM_014407.3 → NP_055222.3  calcium-activated potassium channel subunit beta-3 isoform d

      See identical proteins and their annotated locations for NP_055222.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) encodes the longest isoform (d).
      Source sequence(s)
      AF139471, AF160968, AK304837, BC113851
      Consensus CDS
      CCDS3226.1
      UniProtKB/Swiss-Prot
      B7Z9C9, D3DNR2, E9PER5, Q9NPA1, Q9NPG7, Q9NRM9, Q9UHN3
      Related
      ENSP00000319370.5, ENST00000314235.9
      Conserved Domains (1) summary
      pfam03185
      Location:49 → 243
      CaKB; Calcium-activated potassium channel, beta subunit

    3. NM_171828.3 → NP_741979.1  calcium-activated potassium channel subunit beta-3 isoform a

      See identical proteins and their annotated locations for NP_741979.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR and 5' coding region, and uses an alternate translational start codon, compared to variant 4. The resulting isoform (a) has a distinct N-terminus and is shorter than isoform d.
      Source sequence(s)
      AF139471, AF204159, AK304837
      Consensus CDS
      CCDS3225.1
      UniProtKB/Swiss-Prot
      Q9NPA1
      Related
      ENSP00000327866.2, ENST00000349697.2
      Conserved Domains (1) summary
      pfam03185
      Location:47 → 241
      CaKB; Calcium-activated potassium channel, beta subunit

    4. NM_171829.3 → NP_741980.1  calcium-activated potassium channel subunit beta-3 isoform b

      See identical proteins and their annotated locations for NP_741980.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and uses an alternate translational start codon, compared to variant 4. The resulting isoform (b) has a distinct N-terminus and is shorter than isoform d.
      Source sequence(s)
      AC007823, AF160968, AF170916, BC082272, BM745010
      Consensus CDS
      CCDS43172.1
      UniProtKB/Swiss-Prot
      Q9NPA1
      Related
      ENSP00000418536.1, ENST00000485523.5
      Conserved Domains (1) summary
      pfam03185
      Location:27 → 221
      CaKB; Calcium-activated potassium channel, beta subunit

    5. NM_171830.2 → NP_741981.1  calcium-activated potassium channel subunit beta-3 isoform c

      See identical proteins and their annotated locations for NP_741981.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, and uses an alternate translational start codon, compared to variant 4. The resulting isoform (c) has a distinct N-terminus and is shorter than isoform d.
      Source sequence(s)
      AC007823, AC076966
      Consensus CDS
      CCDS43173.1
      UniProtKB/Swiss-Prot
      Q9NPA1
      Related
      ENSP00000376451.2, ENST00000392685.7
      Conserved Domains (1) summary
      pfam03185
      Location:45 → 239
      CaKB; Calcium-activated potassium channel, beta subunit

    RNA

    1. NR_028135.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in its 5'-most and 3'-most exons, compared to variant 4. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC007823, AC076966, AI990131, AK304837, BC082272

    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
      179239703..179267050 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      182043540..182070887 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NPA1.2 GenPept UniProtKB/Swiss-Prot:Q9NPA1

    Gene LinkOut

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

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