• Gene id: 784

Gene Summary

• Gene Symbol: CACNB3   Gene   UCSC   Ensembl
• Aliases: CAB3, CACNLB3
• Gene name: calcium voltage-gated channel auxiliary subunit beta 3
• Alternate names: voltage-dependent L-type calcium channel subunit beta-3, calcium channel, voltage-dependent, beta 3 subunit,
• Gene location: 12q13.12 (48814431: 48828940)     Exons: 17     NC_000012.12
• Gene summary(Entrez): This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regul

Protein Summary

• Protein general information: P54284  
  • Name: Voltage dependent L type calcium channel subunit beta 3 (CAB3) (Calcium channel voltage dependent subunit beta 3)
  • Length: 484  
  • Mass: 54532
  • Tissue specificity: Expressed mostly in brain, colon and ovary. {ECO
• Sequence:

  MYDDSYVPGFEDSEAGSADSYTSRPSLDSDVSLEEDRESARREVESQAQQQLERAKHKPVAFAVRTNVSYCGVLD
  EECPVQGSGVNFEAKDFLHIKEKYSNDWWIGRLVKEGGDIAFIPSPQRLESIRLKQEQKARRSGNPSSLSDIGNR
  RSPPPSLAKQKQKQAEHVPPYDVVPSMRPVVLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADLSLAK
  RSVLNNPGKRTIIERSSARSSIAEVQSEIERIFELAKSLQLVVLDADTINHPAQLAKTSLAPIIVFVKVSSPKVL
  QRLIRSRGKSQMKHLTVQMMAYDKLVQCPPESFDVILDENQLEDACEHLAEYLEVYWRATHHPAPGPGLLGPPSA
  IPGLQNQQLLGERGEEHSPLERDSLMPSDEASESSRQAWTGSSQRSSRHLEEDYADAYQDLYQPHRQHTSGLPSA
  NGHDPQDRLLAQDSEHNHSDRNWQRNRPWPKDSY

• Structural information:
  • Protein Domains: (59..12-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR035760  IPR008145  IPR027417  IPR036028  IPR001452   IPR008079  IPR000584  
  • Prosite: PS50002
  • CDD: cd12042
  • DIP: 39138
  • STRING: ENSP00000301050
• Other Databases: GeneCards:  CACNB3  Malacards:  CACNB3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005891	voltage-gated calcium channel complex	IBA	cellular component
GO:0008331	high voltage-gated calcium channel activity	IBA	molecular function
GO:1901385	regulation of voltage-gated calcium channel activity	IBA	biological process
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0007528	neuromuscular junction development	IBA	biological process
GO:0005246	calcium channel regulator activity	ISS	molecular function
GO:1901843	positive regulation of high voltage-gated calcium channel activity	ISS	biological process
GO:1990454	L-type voltage-gated calcium channel complex	ISS	cellular component
GO:0061577	calcium ion transmembrane transport via high voltage-gated calcium channel	ISS	biological process
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0005891	voltage-gated calcium channel complex	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0005245	voltage-gated calcium channel activity	TAS	molecular function
GO:0005891	voltage-gated calcium channel complex	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0051899	membrane depolarization	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0061337	cardiac conduction	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000463	positive regulation of excitatory postsynaptic potential	IEA	biological process
GO:1901843	positive regulation of high voltage-gated calcium channel activity	IEA	biological process
GO:1901387	positive regulation of voltage-gated calcium channel activity	IEA	biological process
GO:1901386	negative regulation of voltage-gated calcium channel activity	IEA	biological process
GO:0090650	cellular response to oxygen-glucose deprivation	IEA	biological process
GO:0072659	protein localization to plasma membrane	IEA	biological process
GO:0050966	detection of mechanical stimulus involved in sensory perception of pain	IEA	biological process
GO:0005246	calcium channel regulator activity	IEA	molecular function
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0050852	T cell receptor signaling pathway	IEA	biological process
GO:0005891	voltage-gated calcium channel complex	IEA	cellular component
GO:1990454	L-type voltage-gated calcium channel complex	IEA	cellular component
GO:1905788	negative regulation of detection of mechanical stimulus involved in sensory perception of touch	IEA	biological process
GO:1902630	regulation of membrane hyperpolarization	IEA	biological process
GO:0098903	regulation of membrane repolarization during action potential	IEA	biological process
GO:0090314	positive regulation of protein targeting to membrane	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0061577	calcium ion transmembrane transport via high voltage-gated calcium channel	IEA	biological process
GO:0060402	calcium ion transport into cytosol	IEA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0008331	high voltage-gated calcium channel activity	IEA	molecular function
GO:0005891	voltage-gated calcium channel complex	IEA	cellular component
GO:0008331	high voltage-gated calcium channel activity	ISS	contributes to
GO:0072659	protein localization to plasma membrane	ISS	biological process
GO:0060402	calcium ion transport into cytosol	ISS	biological process
GO:0061577	calcium ion transmembrane transport via high voltage-gated calcium channel	ISS	biological process
GO:0098903	regulation of membrane repolarization during action potential	ISS	biological process
GO:1990454	L-type voltage-gated calcium channel complex	ISS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005891	voltage-gated calcium channel complex	IDA	cellular component
GO:0006816	calcium ion transport	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0005245	voltage-gated calcium channel activity	IDA	contributes to

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04921	Oxytocin signaling pathway
hsa04260	Cardiac muscle contraction
hsa05414	Dilated cardiomyopathy
hsa05410	Hypertrophic cardiomyopathy
hsa05412	Arrhythmogenic right ventricular cardiomyopathy

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray