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, b

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
MIRT739410	hsa-miR-4802-3p	HITS-CLIP	33718276
MIRT857912	hsa-miR-103a	CLIP-seq
MIRT857913	hsa-miR-107	CLIP-seq
MIRT857914	hsa-miR-1183	CLIP-seq
MIRT857915	hsa-miR-1206	CLIP-seq
MIRT857916	hsa-miR-122	CLIP-seq
MIRT857917	hsa-miR-1265	CLIP-seq
MIRT857918	hsa-miR-134	CLIP-seq
MIRT857919	hsa-miR-190	CLIP-seq
MIRT857920	hsa-miR-190b	CLIP-seq
MIRT857921	hsa-miR-2053	CLIP-seq
MIRT857922	hsa-miR-2113	CLIP-seq
MIRT857923	hsa-miR-3065-5p	CLIP-seq
MIRT857924	hsa-miR-3118	CLIP-seq
MIRT857925	hsa-miR-3129-3p	CLIP-seq
MIRT857926	hsa-miR-3136-5p	CLIP-seq
MIRT857927	hsa-miR-3164	CLIP-seq
MIRT857928	hsa-miR-3171	CLIP-seq
MIRT857929	hsa-miR-3190	CLIP-seq
MIRT857930	hsa-miR-3202	CLIP-seq
MIRT857931	hsa-miR-338-5p	CLIP-seq
MIRT857932	hsa-miR-3605-5p	CLIP-seq
MIRT857933	hsa-miR-361-5p	CLIP-seq
MIRT857934	hsa-miR-3653	CLIP-seq
MIRT857935	hsa-miR-3658	CLIP-seq
MIRT857936	hsa-miR-3659	CLIP-seq
MIRT857937	hsa-miR-3688-3p	CLIP-seq
MIRT857938	hsa-miR-3689a-5p	CLIP-seq
MIRT857939	hsa-miR-3689b	CLIP-seq
MIRT857940	hsa-miR-3689e	CLIP-seq
MIRT857941	hsa-miR-3689f	CLIP-seq
MIRT857942	hsa-miR-374a	CLIP-seq
MIRT857943	hsa-miR-374b	CLIP-seq
MIRT857944	hsa-miR-409-3p	CLIP-seq
MIRT857945	hsa-miR-4255	CLIP-seq
MIRT857946	hsa-miR-4257	CLIP-seq
MIRT857947	hsa-miR-4307	CLIP-seq
MIRT857948	hsa-miR-4426	CLIP-seq
MIRT857949	hsa-miR-4439	CLIP-seq
MIRT857950	hsa-miR-4513	CLIP-seq
MIRT857951	hsa-miR-4533	CLIP-seq
MIRT857952	hsa-miR-4647	CLIP-seq
MIRT857953	hsa-miR-4662b	CLIP-seq
MIRT857954	hsa-miR-4677-3p	CLIP-seq
MIRT857955	hsa-miR-4678	CLIP-seq
MIRT857956	hsa-miR-4679	CLIP-seq
MIRT857957	hsa-miR-4698	CLIP-seq
MIRT857958	hsa-miR-4709-3p	CLIP-seq
MIRT857959	hsa-miR-4712-3p	CLIP-seq
MIRT857960	hsa-miR-4729	CLIP-seq
MIRT857961	hsa-miR-4775	CLIP-seq
MIRT857962	hsa-miR-485-5p	CLIP-seq
MIRT857963	hsa-miR-505	CLIP-seq
MIRT857964	hsa-miR-539	CLIP-seq
MIRT857965	hsa-miR-548ac	CLIP-seq
MIRT857966	hsa-miR-548ae	CLIP-seq
MIRT857967	hsa-miR-548aj	CLIP-seq
MIRT857968	hsa-miR-548am	CLIP-seq
MIRT857969	hsa-miR-548d-3p	CLIP-seq
MIRT857970	hsa-miR-548m	CLIP-seq
MIRT857971	hsa-miR-548x	CLIP-seq
MIRT857972	hsa-miR-548z	CLIP-seq
MIRT857973	hsa-miR-569	CLIP-seq
MIRT857974	hsa-miR-579	CLIP-seq
MIRT857975	hsa-miR-590-3p	CLIP-seq
MIRT857976	hsa-miR-628-5p	CLIP-seq
MIRT857977	hsa-miR-758	CLIP-seq
MIRT857978	hsa-miR-129-3p	CLIP-seq
MIRT857979	hsa-miR-218	CLIP-seq
MIRT857980	hsa-miR-3159	CLIP-seq
MIRT857981	hsa-miR-3200-5p	CLIP-seq
MIRT857930	hsa-miR-3202	CLIP-seq
MIRT857982	hsa-miR-361-3p	CLIP-seq
MIRT857983	hsa-miR-3617	CLIP-seq
MIRT857984	hsa-miR-3679-3p	CLIP-seq
MIRT857937	hsa-miR-3688-3p	CLIP-seq
MIRT857985	hsa-miR-4279	CLIP-seq
MIRT739773	hsa-miR-433	CLIP-seq
MIRT857986	hsa-miR-4446-5p	CLIP-seq
MIRT857987	hsa-miR-4502	CLIP-seq
MIRT857951	hsa-miR-4533	CLIP-seq
MIRT739772	hsa-miR-4661-5p	CLIP-seq
MIRT857988	hsa-miR-495	CLIP-seq
MIRT857965	hsa-miR-548ac	CLIP-seq
MIRT857966	hsa-miR-548ae	CLIP-seq
MIRT857967	hsa-miR-548aj	CLIP-seq
MIRT857968	hsa-miR-548am	CLIP-seq
MIRT857969	hsa-miR-548d-3p	CLIP-seq
MIRT857989	hsa-miR-548u	CLIP-seq
MIRT857971	hsa-miR-548x	CLIP-seq
MIRT857972	hsa-miR-548z	CLIP-seq
MIRT857990	hsa-miR-599	CLIP-seq
MIRT857991	hsa-miR-636	CLIP-seq
MIRT857992	hsa-miR-641	CLIP-seq
MIRT857993	hsa-miR-651	CLIP-seq
MIRT857994	hsa-miR-7	CLIP-seq
MIRT857995	hsa-miR-938	CLIP-seq
MIRT857942	hsa-miR-374a	CLIP-seq
MIRT857943	hsa-miR-374b	CLIP-seq
MIRT857974	hsa-miR-579	CLIP-seq
MIRT857942	hsa-miR-374a	CLIP-seq
MIRT857943	hsa-miR-374b	CLIP-seq
MIRT857974	hsa-miR-579	CLIP-seq
MIRT1954820	hsa-miR-124	CLIP-seq
MIRT1954821	hsa-miR-3714	CLIP-seq
MIRT1954822	hsa-miR-3910	CLIP-seq
MIRT1954823	hsa-miR-4660	CLIP-seq
MIRT1954824	hsa-miR-488	CLIP-seq
MIRT1954825	hsa-miR-506	CLIP-seq
MIRT1954826	hsa-miR-515-5p	CLIP-seq
MIRT857994	hsa-miR-7	CLIP-seq
MIRT2192354	hsa-miR-466	CLIP-seq
MIRT2192355	hsa-miR-587	CLIP-seq
MIRT2192356	hsa-miR-129-5p	CLIP-seq
MIRT857982	hsa-miR-361-3p	CLIP-seq
MIRT2192357	hsa-miR-3671	CLIP-seq
MIRT857984	hsa-miR-3679-3p	CLIP-seq
MIRT857986	hsa-miR-4446-5p	CLIP-seq
MIRT2192358	hsa-miR-607	CLIP-seq
MIRT857915	hsa-miR-1206	CLIP-seq
MIRT2495749	hsa-miR-144	CLIP-seq
MIRT2495750	hsa-miR-186	CLIP-seq
MIRT857919	hsa-miR-190	CLIP-seq
MIRT857920	hsa-miR-190b	CLIP-seq
MIRT2495751	hsa-miR-3133	CLIP-seq
MIRT2495752	hsa-miR-410	CLIP-seq
MIRT2495753	hsa-miR-4645-3p	CLIP-seq
MIRT857959	hsa-miR-4712-3p	CLIP-seq
MIRT857960	hsa-miR-4729	CLIP-seq
MIRT2495754	hsa-miR-544	CLIP-seq
MIRT857970	hsa-miR-548m	CLIP-seq
MIRT857974	hsa-miR-579	CLIP-seq
MIRT2495749	hsa-miR-144	CLIP-seq
MIRT2495752	hsa-miR-410	CLIP-seq
MIRT2495753	hsa-miR-4645-3p	CLIP-seq
MIRT857959	hsa-miR-4712-3p	CLIP-seq
MIRT2495754	hsa-miR-544	CLIP-seq
MIRT857970	hsa-miR-548m	CLIP-seq

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 c
• 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