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

Gene ID: 10242, updated on 24-Nov-2020

Summary

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
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

Genomic context

See KCNMB2 in Genome Data Viewer
Location:
3q26.32
Exon count:
7
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (178536394..178844429)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (178254086..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 peptidylprolyl isomerase A pseudogene 75 Neighboring gene KCNMB2 antisense RNA 1 Neighboring gene zinc finger matrin-type 3 Neighboring gene uncharacterized LOC101928739

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
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
GeneReviews: Not available
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
GeneReviews: Not available
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
GeneReviews: Not available
Germline genomic variants associated with childhood acute lymphoblastic leukemia.
GeneReviews: Not available

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC22431

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium-activated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-activated potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
ion channel inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
potassium channel regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
action potential IDA
Inferred from Direct Assay
more info
PubMed 
detection of calcium ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
detection of calcium ion IDA
Inferred from Direct Assay
more info
PubMed 
neuronal action potential IDA
Inferred from Direct Assay
more info
PubMed 
potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
potassium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
regulation of vasoconstriction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_001278911.2NP_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
    pfam09303
    Location:232
    KcnmB2_inactiv; KCNMB2, ball and chain domain
    pfam03185
    Location:38229
    CaKB; Calcium-activated potassium channel, beta subunit
  2. NM_005832.5NP_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
    B7Z513
    Conserved Domains (2) summary
    pfam09303
    Location:232
    KcnmB2_inactiv; KCNMB2, ball and chain domain
    pfam03185
    Location:38229
    CaKB; Calcium-activated potassium channel, beta subunit
  3. NM_181361.3NP_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
    pfam09303
    Location:232
    KcnmB2_inactiv; KCNMB2, ball and chain domain
    pfam03185
    Location:38229
    CaKB; Calcium-activated potassium channel, beta subunit

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    178536394..178844429
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011512325.2XP_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
    Related
    ENSP00000408252.2, ENST00000420517.6
    Conserved Domains (2) summary
    pfam09303
    Location:232
    KcnmB2_inactiv; KCNMB2, ball and chain domain
    pfam03185
    Location:38229
    CaKB; Calcium-activated potassium channel, beta subunit
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