• Gene id: 785

Gene Summary

• Gene Symbol: CACNB4   Gene   UCSC   Ensembl
• Aliases: CAB4, CACNLB4, EA5, EIG9, EJM, EJM4, EJM6
• Gene name: calcium voltage-gated channel auxiliary subunit beta 4
• Alternate names: voltage-dependent L-type calcium channel subunit beta-4, calcium channel voltage-dependent subunit beta 4, dihydropyridine-sensitive L-type, calcium channel beta-4 subunit,
• Gene location: 2q23.3 (152099166: 151832770)     Exons: 22     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, b
• OMIM: 604376

Protein Summary

• Protein general information: O00305  
  • Name: Voltage dependent L type calcium channel subunit beta 4 (CAB4) (Calcium channel voltage dependent subunit beta 4)
  • Length: 520  
  • Mass: 58169
  • Tissue specificity: Expressed predominantly in the cerebellum and kidney.
• Sequence:

  MSSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPSDSDVSLEEDREAIRQ
  EREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISFDAKDFLHIKEKYNNDWWIGRLVKEGCEIGF
  IPSPLRLENIRIQQEQKRGRFHGGKSSGNSSSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLV
  GPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIF
  ELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQLVAADKLAQCPPEMF
  DVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGSTALSPYPTAISGLQSQRMRHSNHSTENSPI
  ERRSLMTSDENYHNERARKSRNRLSSSSQHSRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL

• Structural information:
  • Protein Domains: (92..16-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR008145  IPR027417  IPR036028  IPR001452  IPR000584  
  • Prosite: PS50002
  • PDB: 2D46
  • PDBsum: 2D46
  • STRING: ENSP00000438949
• Other Databases: GeneCards:  CACNB4  Malacards:  CACNB4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007528	neuromuscular junction development	IBA	biological process
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:1901385	regulation of voltage-gated calcium channel activity	IBA	biological process
GO:0005891	voltage-gated calcium channel complex	IBA	cellular component
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:0005262	calcium channel activity	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0006816	calcium 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:0006811	ion transport	IEA	biological process
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:0045202	synapse	IEA	cellular component
GO:0008331	high voltage-gated calcium channel activity	IDA	contributes to
GO:0005891	voltage-gated calcium channel complex	IDA	cellular component
GO:0005245	voltage-gated calcium channel activity	IDA	contributes to
GO:0005891	voltage-gated calcium channel complex	IDA	cellular component
GO:1901385	regulation of voltage-gated calcium channel activity	IMP	biological process
GO:0009898	cytoplasmic side of plasma membrane	TAS	cellular component

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
Juvenile myoclonic epilepsy	KEGG:H02217
Idiopathic generalized epilepsies	KEGG:H00808
Episodic ataxias	KEGG:H00749
Juvenile myoclonic epilepsy	KEGG:H02217
Idiopathic generalized epilepsies	KEGG:H00808
Episodic ataxias	KEGG:H00749
Cardiomyopathy	PMID:29495422
episodic ataxia	PMID:10762541
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881