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

Gene ID: 10242, updated on 2-Nov-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
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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

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