• Gene id: 27094

Gene Summary

• Gene Symbol: KCNMB3   Gene   UCSC   Ensembl
• Aliases: BKBETA3, HBETA3, K(VCA)BETA-3, KCNMB2, KCNMBL, SLO-BETA-3, SLOBETA3
• Gene name: potassium calcium-activated channel subfamily M regulatory beta subunit 3
• Alternate names: calcium-activated potassium channel subunit beta-3, 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 cha,
• Gene location: 3q26.32 (179267049: 179239748)     Exons: 7     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 605222

Protein Summary

• Protein general information: Q9NPA1  
  • Name: Calcium activated potassium channel subunit beta 3 (BK channel subunit beta 3) (BKbeta3) (Hbeta3) (Calcium activated potassium channel, subfamily M subunit beta 3) (Charybdotoxin receptor subunit beta 3) (K(VCA)beta 3) (Maxi K channel subunit beta 3) (Slo
  • Length: 279  
  • Mass: 31604
  • 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. {ECO
• Sequence:

  MDFSPSSELGFHFVAFILLTRHRTAFPASGKKRETDYSDGDPLDVHKRLPSSAGEDRAVMLGFAMMGFSVLMFFL
  LGTTILKPFMLSIQREESTCTAIHTDIMDDWLDCAFTCGVHCHGQGKYPCLQVFVNLSHPGQKALLHYNEEAVQI
  NPKCFYTPKCHQDRNDLLNSALDIKEFFDHKNGTPFSCFYSPASQSEDVILIKKYDQMAIFHCLFWPSLTLLGGA
  LIVGMVRLTQHLSLLCEKYSTVVRDEVGGKVPYIEQHQFKLCIMRRSKGRAEKS

• Structural information:
  • Interpro: IPR003930  
  • STRING: ENSP00000319370
• Other Databases: GeneCards:  KCNMB3  Malacards:  KCNMB3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008076	voltage-gated potassium channel complex	IBA	cellular component
GO:0015269	calcium-activated potassium channel activity	IBA	molecular function
GO:0015459	potassium channel regulator activity	IBA	molecular function
GO:0005513	detection of calcium ion	IBA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0015269	calcium-activated potassium channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0015459	potassium channel regulator activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0019228	neuronal action potential	IDA	biological process
GO:0005513	detection of calcium ion	IDA	biological process
GO:0001508	action potential	IDA	biological process
GO:0015269	calcium-activated potassium channel activity	IDA	molecular function
GO:0008076	voltage-gated potassium channel complex	IDA	cellular component
GO:0006813	potassium ion transport	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0015459	potassium channel regulator activity	NAS	molecular function
GO:0015459	potassium channel regulator activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04022	cGMP-PKG signaling pathway
hsa04270	Vascular smooth muscle contraction
hsa04911	Insulin secretion

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray