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

Gene ID: 27094, updated on 5-Mar-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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Location:
3q26.32
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (179239703..179267050, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (182043540..182070887, complement)
105.20220307 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
  • 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. A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2-q26.33. Dai XH, et al. Hum Genet, 2008 Nov. PMID 18830713
  3. Species-specific Differences among KCNMB3 BK beta3 auxiliary subunits: some beta3 N-terminal variants may be primate-specific subunits. Zeng X, et al. J Gen Physiol, 2008 Jul. PMID 18591419, Free PMC Article
  4. Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy. Lorenz S, et al. Am J Med Genet B Neuropsychiatr Genet, 2007 Jan 5. PMID 16958040
  5. Variants of the KCNMB3 regulatory subunit of maxi BK channels affect channel inactivation. Hu S, et al. Physiol Genomics, 2003 Nov 11. PMID 14612589

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_2023_10

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

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