CACNB4 (calcium voltage-gated channel auxiliary subunit beta 4)

Gene

• Entrez ID: 785
• Gene name: Calcium voltage-gated channel auxiliary subunit beta 4
• Gene symbol: CACNB4
• Synonyms: CAB4, CACNLB4, EA5, EIG9, EJM, EJM4, EJM6
• Chromosome: 2
• Chromosome location: 2q23.3
• Summary: 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, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1805031	C>A	Pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity, risk-factor	5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs1805032	G>A	Risk-factor	Stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs200092211	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs200662010	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs542973906	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, upstream transcript variant, missense variant
rs558998873	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs754380009	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, synonymous variant, upstream transcript variant
rs762394421	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs794727118	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant
rs1057518688	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030091	hsa-miR-26b-5p	Sequencing	20371350

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	16525042
GO:0005515	Function	Protein binding	IPI	25910212, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IBA	21873635
GO:0005891	Component	Voltage-gated calcium channel complex	IDA	11880487, 16525042
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0007528	Process	Neuromuscular junction development	IBA	21873635
GO:0008331	Function	High voltage-gated calcium channel activity	IDA	11880487
GO:0009898	Component	Cytoplasmic side of plasma membrane	TAS	16385006
GO:0045202	Component	Synapse	IEA
GO:0051899	Process	Membrane depolarization	TAS
GO:0061337	Process	Cardiac conduction	TAS
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:1901385	Process	Regulation of voltage-gated calcium channel activity	IBA	21873635
GO:1901385	Process	Regulation of voltage-gated calcium channel activity	IMP	11880487

Other IDs

• MIM: 601949
• HGNC: 1404
• e!Ensembl: ENSG00000182389

Protein

• UniProt ID: O00305
• Protein name: Voltage-dependent L-type calcium channel subunit beta-4 (CAB4) (Calcium channel voltage-dependent subunit beta 4)
• Protein function: The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting.
• PDB: 2D46
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12052	VGCC_beta4Aa_N	50 → 91	Voltage gated calcium channel subunit beta domain 4Aa N terminal	Domain
  PF00625	Guanylate_kin	218 → 398	Guanylate kinase	Domain

• Sequence:

  MSSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQGSADSYTSRPS
  DSDVSLEEDREAIRQEREQQAAIQLERAKSKPVAFAVKTNVSYCGALDEDVPVPSTAISF
  DAKDFLHIKEKYNNDWWIGRLVKEGCEIGFIPSPLRLENIRIQQEQKRGRFHGGKSSGNS
  SSSLGEMVSGTFRATPTSTAKQKQKVTEHIPPYDVVPSMRPVVLVGPSLKGYEVTDMMQK
  ALFDFLKHRFDGRISITRVTADISLAKRSVLNNPSKRAIIERSNTRSSLAEVQSEIERIF
  ELARSLQLVVLDADTINHPAQLIKTSLAPIIVHVKVSSPKVLQRLIKSRGKSQSKHLNVQ
  LVAADKLAQCPPEMFDVILDENQLEDACEHLGEYLEAYWRATHTTSSTPMTPLLGRNLGS
  TALSPYPTAISGLQSQRMRHSNHSTENSPIERRSLMTSDENYHNERARKSRNRLSSSSQH
  SRDHYPLVEEDYPDSYQDTYKPHRNRGSPGGYSHDSRHRL

• Sequence length: 520