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Aliases for KCNMB3 Gene

Aliases for KCNMB3 Gene

  • Potassium Calcium-Activated Channel Subfamily M Regulatory Beta Subunit 3 2 3 5
  • Potassium Large Conductance Calcium-Activated Channel, Subfamily M Beta Member 3 2 3
  • Calcium-Activated Potassium Channel, Subfamily M Subunit Beta-3 3 4
  • Potassium Channel Subfamily M Regulatory Beta Subunit 3 2 3
  • Charybdotoxin Receptor Subunit Beta-3 3 4
  • Big Potassium Channel Beta Subunit 3 2 3
  • Maxi K Channel Subunit Beta-3 3 4
  • MaxiK Channel Beta-Subunit 3 2 3
  • BK Channel Beta Subunit 3 2 3
  • BK Channel Subunit Beta-3 3 4
  • KCNMB2 3 4
  • KCNMBL 3 4
  • Large Conductance, Voltage And Ca2+ Activated Potassium Channel Maxi K Beta 3 Subunit 3
  • Calcium-Activated Potassium Channel Regulatory Subunit 3
  • Calcium-Activated Potassium Channel Subunit Beta-3 3
  • K(VCA)BETA-3 3
  • K(VCA)Beta-3 4
  • SLO-BETA-3 3
  • Slo-Beta-3 4
  • SLOBETA3 3
  • BKBETA3 3
  • BKbeta3 4
  • HBETA3 3
  • Hbeta3 4

External Ids for KCNMB3 Gene

Previous HGNC Symbols for KCNMB3 Gene

  • KCNMB2
  • KCNMBL

Previous GeneCards Identifiers for KCNMB3 Gene

  • GC03M175611
  • GC03M179800
  • GC03M180359
  • GC03M180278
  • GC03M180281
  • GC03M180440
  • GC03M178957
  • GC03M176360

Summaries for KCNMB3 Gene

Entrez Gene Summary for KCNMB3 Gene

  • 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]

GeneCards Summary for KCNMB3 Gene

KCNMB3 (Potassium Calcium-Activated Channel Subfamily M Regulatory Beta Subunit 3) is a Protein Coding gene. Among its related pathways are Aldosterone synthesis and secretion and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include potassium channel regulator activity and calcium-activated potassium channel activity. An important paralog of this gene is ENSG00000275163.

UniProtKB/Swiss-Prot for KCNMB3 Gene

  • Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Alters the functional properties of the current expressed by the KCNMA1 channel. Isoform 2, isoform 3 and isoform 4 partially inactivate the current of KCNBMA. Isoform 4 induces a fast and incomplete inactivation of KCNMA1 channel that is detectable only at large depolarizations. In contrast, isoform 1 does not induce detectable inactivation of KCNMA1. Two or more subunits of KCNMB3 are required to block the KCNMA1 tetramer.

Tocris Summary for KCNMB3 Gene

  • Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.

Gene Wiki entry for KCNMB3 Gene

Additional gene information for KCNMB3 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNMB3 Gene

Genomics for KCNMB3 Gene

GeneHancer (GH) Regulatory Elements for KCNMB3 Gene

Promoters and enhancers for KCNMB3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J179259 Promoter 1 EPDnew 650.4 +7.1 7076 0.1 HDAC1 MEIS2 PKNOX1 TAF9B CTBP1 ATF7 SOX6 L3MBTL2 ZNF407 ZEB2 LRRFIP1P1 KCNMB3 ZNF639 GC03P179238
GH03J179267 Enhancer 0.9 FANTOM5 652.5 +1.0 1022 0 HDAC1 ATF1 ARNT NCOA2 CHAMP1 TCF12 GATA2 ZFP91 CREM NCOA1 KCNMB3 LRRFIP1P1
GH03J179266 Enhancer 0.5 Ensembl 650.7 +0.3 349 0.2 L3MBTL2 GABPB1 MAX MGA ZNF592 KCNMB3 LRRFIP1P1
GH03J179179 Enhancer 1.1 Ensembl ENCODE 8.2 +85.9 85893 3.1 PKNOX1 ZSCAN4 KLF17 FEZF1 ZEB1 ZNF121 ZNF366 SCRT2 FOS ATF7 PIK3CA LOC101928739 KCNMB3 ENSG00000201957 GC03P179235
GH03J179033 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 3.3 +230.7 230653 5.8 FOXA2 DMAP1 TCF12 EGR2 ZNF680 SP5 SMARCA4 GLIS1 NR2C1 KDM1A LOC101928739 PIK3CA ZMAT3 KCNMB3 GC03M179018
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNMB3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNMB3 gene promoter:
  • CUTL1
  • RORalpha1
  • RelA
  • NF-kappaB1

Genomic Locations for KCNMB3 Gene

Genomic Locations for KCNMB3 Gene
chr3:179,236,691-179,267,050
(GRCh38/hg38)
Size:
30,360 bases
Orientation:
Minus strand
chr3:178,957,530-178,984,838
(GRCh37/hg19)
Size:
27,309 bases
Orientation:
Minus strand

Genomic View for KCNMB3 Gene

Genes around KCNMB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNMB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNMB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNMB3 Gene

Proteins for KCNMB3 Gene

  • Protein details for KCNMB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NPA1-KCMB3_HUMAN
    Recommended name:
    Calcium-activated potassium channel subunit beta-3
    Protein Accession:
    Q9NPA1
    Secondary Accessions:
    • B7Z9C9
    • D3DNR2
    • E9PER5
    • Q9NPG7
    • Q9NRM9
    • Q9UHN3

    Protein attributes for KCNMB3 Gene

    Size:
    279 amino acids
    Molecular mass:
    31604 Da
    Quaternary structure:
    • Interacts with KCNMA1 tetramer. There are probably 4 molecules of KCMNB3 per KCNMA1 tetramer.

    Alternative splice isoforms for KCNMB3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNMB3 Gene

Post-translational modifications for KCNMB3 Gene

No data available for DME Specific Peptides for KCNMB3 Gene

Domains & Families for KCNMB3 Gene

Gene Families for KCNMB3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for KCNMB3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NPA1

UniProtKB/Swiss-Prot:

KCMB3_HUMAN :
  • Isoform 4 cytoplasmic N-terminal domain participates in the partial inactivation of KCNMA1, possibly by binding to a receptor site.
  • Belongs to the KCNMB (TC 8.A.14.1) family. KCNMB3 subfamily.
Domain:
  • Isoform 4 cytoplasmic N-terminal domain participates in the partial inactivation of KCNMA1, possibly by binding to a receptor site.
  • The extracellular domain forms gates to block ion permeation, providing a mechanism by which current can be rapidly diminished upon cellular repolarization.
Family:
  • Belongs to the KCNMB (TC 8.A.14.1) family. KCNMB3 subfamily.
genes like me logo Genes that share domains with KCNMB3: view

Function for KCNMB3 Gene

Molecular function for KCNMB3 Gene

UniProtKB/Swiss-Prot Function:
Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Alters the functional properties of the current expressed by the KCNMA1 channel. Isoform 2, isoform 3 and isoform 4 partially inactivate the current of KCNBMA. Isoform 4 induces a fast and incomplete inactivation of KCNMA1 channel that is detectable only at large depolarizations. In contrast, isoform 1 does not induce detectable inactivation of KCNMA1. Two or more subunits of KCNMB3 are required to block the KCNMA1 tetramer.
GENATLAS Biochemistry:
potassium non voltage gated large conductance calcium activated channel,subfamily M,Maxik,fundamental in the control of smooth muscle tone and neuronal excitability, modulatory beta member 3,predominantly expressed in pancreas,situated in the duplication region dup(Bq),see KCNMA1

Phenotypes From GWAS Catalog for KCNMB3 Gene

Gene Ontology (GO) - Molecular Function for KCNMB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004427 inorganic diphosphatase activity IEA --
GO:0015269 calcium-activated potassium channel activity IDA 10692449
GO:0015459 potassium channel regulator activity NAS,IBA 10766764
genes like me logo Genes that share ontologies with KCNMB3: view
genes like me logo Genes that share phenotypes with KCNMB3: view

Animal Model Products

miRNA for KCNMB3 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCNMB3 Gene

Localization for KCNMB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNMB3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNMB3 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 2
nucleus 2
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KCNMB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 10692449
GO:0008076 voltage-gated potassium channel complex IDA 10692449
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with KCNMB3: view

Pathways & Interactions for KCNMB3 Gene

genes like me logo Genes that share pathways with KCNMB3: view

Gene Ontology (GO) - Biological Process for KCNMB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001508 action potential IDA 10692449
GO:0005513 detection of calcium ion IDA 10692449
GO:0006796 phosphate-containing compound metabolic process IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IDA 10692449
genes like me logo Genes that share ontologies with KCNMB3: view

No data available for SIGNOR curated interactions for KCNMB3 Gene

Drugs & Compounds for KCNMB3 Gene

(9) Drugs for KCNMB3 Gene - From: DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Miconazole Approved, Investigational, Vet_approved Pharma Channel blocker, Antagonist, Pore Blocker, Target, inhibitor 3838
Procaine Approved, Investigational, Vet_approved Pharma Channel blocker, Target, binder 60
Trimebutine Approved Pharma Target, inhibitor Antimuscarinic 7
Potassium Approved, Investigational Pharma 0
calcium Approved Nutra 0

(4) Tocris Compounds for KCNMB3 Gene

Compound Action Cas Number
Chromanol 293B IKs blocker. Also blocks ICFTR 163163-23-3
Flupirtine maleate KV7 channel activator 75507-68-5
Kaliotoxin KV and KCa blocker 145199-73-1
MaxiPost Potassium channel modulator; exerts subtype-specific effects 187523-35-9
genes like me logo Genes that share compounds with KCNMB3: view

Transcripts for KCNMB3 Gene

Unigene Clusters for KCNMB3 Gene

Potassium large conductance calcium-activated channel, subfamily M beta member 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNMB3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1: - -
SP2:
SP3:
SP4: - - -

Relevant External Links for KCNMB3 Gene

GeneLoc Exon Structure for
KCNMB3
ECgene alternative splicing isoforms for
KCNMB3

Expression for KCNMB3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNMB3 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNMB3 Gene:

KCNMB3

SOURCE GeneReport for Unigene cluster for KCNMB3 Gene:

Hs.591285

mRNA Expression by UniProt/SwissProt for KCNMB3 Gene:

Q9NPA1-KCMB3_HUMAN
Tissue specificity: Isoform 1, isoform 3 and isoform 4 are widely expressed. Isoform 2 is expressed placenta, pancreas, kidney and heart. Isoform 1 and isoform 3 are highly expressed in pancreas and testis.

Evidence on tissue expression from TISSUES for KCNMB3 Gene

  • Spleen(4.2)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with KCNMB3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNMB3 Gene

Orthologs for KCNMB3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KCNMB3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNMB3 34 33
  • 99.16 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KCNMB3 34 33
  • 84.36 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KCNMB3 34
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnmb3 33
  • 76.19 (n)
mouse
(Mus musculus)
Mammalia Kcnmb3 16 34 33
  • 75.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KCNMB3 34
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNMB3 34
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 46 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnmb3 33
  • 65.7 (n)
Str.16249 33
zebrafish
(Danio rerio)
Actinopterygii KCNMB3 34
  • 31 (a)
OneToOne
Species where no ortholog for KCNMB3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KCNMB3 Gene

ENSEMBL:
Gene Tree for KCNMB3 (if available)
TreeFam:
Gene Tree for KCNMB3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCNMB3: view image

Paralogs for KCNMB3 Gene

Paralogs for KCNMB3 Gene

(3) SIMAP similar genes for KCNMB3 Gene using alignment to 2 proteins:

  • KCMB3_HUMAN
  • L8E9P7_HUMAN

Pseudogenes.org Pseudogenes for KCNMB3 Gene

genes like me logo Genes that share paralogs with KCNMB3: view

Variants for KCNMB3 Gene

Sequence variations from dbSNP and Humsavar for KCNMB3 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs143962239 benign, not specified 179,242,979(-) TTTT/TTT coding_sequence_variant, frameshift, intron_variant, non_coding_transcript_variant
rs1000222061 -- 179,245,522(-) G/C intron_variant
rs1000319092 -- 179,264,739(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000350331 -- 179,264,501(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000429535 -- 179,256,645(-) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KCNMB3 Gene

Variant ID Type Subtype PubMed ID
dgv4999n100 CNV gain 25217958
dgv5000n100 CNV gain 25217958
esv3893827 CNV gain 25118596
nsv1010137 CNV gain 25217958
nsv471116 CNV gain 18288195
nsv592650 CNV gain 21841781
nsv829806 CNV gain 17160897
nsv967093 CNV duplication 23825009
nsv967094 CNV duplication 23825009

Variation tolerance for KCNMB3 Gene

Residual Variation Intolerance Score: 73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.57; 96.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNMB3 Gene

Human Gene Mutation Database (HGMD)
KCNMB3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNMB3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNMB3 Gene

Disorders for KCNMB3 Gene

Additional Disease Information for KCNMB3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for KCNMB3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KCNMB3 Gene

Publications for KCNMB3 Gene

  1. Identification of a putative regulatory subunit of a calcium-activated potassium channel in the dup(3q) syndrome region and a related sequence on 22q11.2. (PMID: 10585773) Riazi MA … McDermid HE (Genomics 1999) 2 3 4 58
  2. Species-specific Differences among KCNMB3 BK beta3 auxiliary subunits: some beta3 N-terminal variants may be primate-specific subunits. (PMID: 18591419) Zeng X … Lingle CJ (The Journal of general physiology 2008) 3 22 58
  3. Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy. (PMID: 16958040) Lorenz S … Sander T (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007) 3 44 58
  4. Variants of the KCNMB3 regulatory subunit of maxi BK channels affect channel inactivation. (PMID: 14612589) Hu S … Ali DW (Physiological genomics 2003) 3 4 58
  5. Redox-sensitive extracellular gates formed by auxiliary beta subunits of calcium-activated potassium channels. (PMID: 12740608) Zeng XH … Lingle CJ (Nature structural biology 2003) 3 4 58

Products for KCNMB3 Gene

Sources for KCNMB3 Gene

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