CACNB3 (calcium voltage-gated channel auxiliary subunit beta 3)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 784
• Gene name: Calcium voltage-gated channel auxiliary subunit beta 3
• Gene symbol: CACNB3
• Synonyms (NCBI Gene): CAB3, CACNLB3
• Chromosome: 12
• Chromosome location: 12q13.12
• Summary: 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

miRNA Show/Hide all (98)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016710	hsa-miR-335-5p	Microarray	18185580
MIRT042695	hsa-miR-196b-5p	CLASH	23622248
MIRT857899	hsa-miR-1	CLIP-seq
MIRT857900	hsa-miR-206	CLIP-seq
MIRT857901	hsa-miR-3064-3p	CLIP-seq
MIRT857902	hsa-miR-3673	CLIP-seq
MIRT857903	hsa-miR-4300	CLIP-seq
MIRT857904	hsa-miR-432	CLIP-seq
MIRT857905	hsa-miR-4474-3p	CLIP-seq
MIRT857906	hsa-miR-4764-5p	CLIP-seq
MIRT857907	hsa-miR-604	CLIP-seq
MIRT857908	hsa-miR-613	CLIP-seq
MIRT857909	hsa-miR-619	CLIP-seq
MIRT857910	hsa-miR-647	CLIP-seq
MIRT857911	hsa-miR-920	CLIP-seq
MIRT1954778	hsa-miR-1202	CLIP-seq
MIRT1954779	hsa-miR-1275	CLIP-seq
MIRT1954780	hsa-miR-1291	CLIP-seq
MIRT1954781	hsa-miR-1294	CLIP-seq
MIRT1954782	hsa-miR-134	CLIP-seq
MIRT1954783	hsa-miR-140-3p	CLIP-seq
MIRT1954784	hsa-miR-183	CLIP-seq
MIRT1954785	hsa-miR-219-5p	CLIP-seq
MIRT1954786	hsa-miR-3118	CLIP-seq
MIRT1954787	hsa-miR-3194-5p	CLIP-seq
MIRT1954788	hsa-miR-330-3p	CLIP-seq
MIRT1954789	hsa-miR-34a	CLIP-seq
MIRT1954790	hsa-miR-34c-5p	CLIP-seq
MIRT1954791	hsa-miR-3612	CLIP-seq
MIRT1954792	hsa-miR-3620	CLIP-seq
MIRT1954793	hsa-miR-3649	CLIP-seq
MIRT1954794	hsa-miR-371-3p	CLIP-seq
MIRT1954795	hsa-miR-371b-3p	CLIP-seq
MIRT1954796	hsa-miR-3972	CLIP-seq
MIRT1954797	hsa-miR-4260	CLIP-seq
MIRT1954798	hsa-miR-4274	CLIP-seq
MIRT1954799	hsa-miR-4292	CLIP-seq
MIRT1954800	hsa-miR-4308	CLIP-seq
MIRT857904	hsa-miR-432	CLIP-seq
MIRT1954801	hsa-miR-4443	CLIP-seq
MIRT1954802	hsa-miR-4445	CLIP-seq
MIRT1954803	hsa-miR-4488	CLIP-seq
MIRT1954804	hsa-miR-449a	CLIP-seq
MIRT1954805	hsa-miR-449b	CLIP-seq
MIRT1954806	hsa-miR-4514	CLIP-seq
MIRT1954807	hsa-miR-4656	CLIP-seq
MIRT1954808	hsa-miR-4659a-5p	CLIP-seq
MIRT1954809	hsa-miR-4659b-5p	CLIP-seq
MIRT1954810	hsa-miR-4663	CLIP-seq
MIRT1954811	hsa-miR-4665-5p	CLIP-seq
MIRT1954812	hsa-miR-4692	CLIP-seq
MIRT1954813	hsa-miR-4697-5p	CLIP-seq
MIRT1954814	hsa-miR-4782-3p	CLIP-seq
MIRT1954815	hsa-miR-508-3p	CLIP-seq
MIRT1954816	hsa-miR-515-3p	CLIP-seq
MIRT1954817	hsa-miR-519e	CLIP-seq
MIRT1954818	hsa-miR-637	CLIP-seq
MIRT1954819	hsa-miR-650	CLIP-seq
MIRT1954787	hsa-miR-3194-5p	CLIP-seq
MIRT2446042	hsa-miR-147	CLIP-seq
MIRT2446043	hsa-miR-1914	CLIP-seq
MIRT2446044	hsa-miR-3150b-3p	CLIP-seq
MIRT2446045	hsa-miR-3689a-3p	CLIP-seq
MIRT2446046	hsa-miR-3689c	CLIP-seq
MIRT2446047	hsa-miR-3911	CLIP-seq
MIRT2446048	hsa-miR-4648	CLIP-seq
MIRT2446049	hsa-miR-4654	CLIP-seq
MIRT2446050	hsa-miR-4728-5p	CLIP-seq
MIRT2446051	hsa-miR-4769-5p	CLIP-seq
MIRT2446052	hsa-miR-4784	CLIP-seq
MIRT2446053	hsa-miR-486-3p	CLIP-seq
MIRT2446054	hsa-miR-516a-3p	CLIP-seq
MIRT2446055	hsa-miR-644	CLIP-seq
MIRT2446056	hsa-miR-765	CLIP-seq
MIRT2446042	hsa-miR-147	CLIP-seq
MIRT2446043	hsa-miR-1914	CLIP-seq
MIRT2446044	hsa-miR-3150b-3p	CLIP-seq
MIRT2446045	hsa-miR-3689a-3p	CLIP-seq
MIRT2446046	hsa-miR-3689c	CLIP-seq
MIRT2446047	hsa-miR-3911	CLIP-seq
MIRT2446048	hsa-miR-4648	CLIP-seq
MIRT2446049	hsa-miR-4654	CLIP-seq
MIRT2446050	hsa-miR-4728-5p	CLIP-seq
MIRT2446051	hsa-miR-4769-5p	CLIP-seq
MIRT2446052	hsa-miR-4784	CLIP-seq
MIRT2446053	hsa-miR-486-3p	CLIP-seq
MIRT2446054	hsa-miR-516a-3p	CLIP-seq
MIRT2446055	hsa-miR-644	CLIP-seq
MIRT2446056	hsa-miR-765	CLIP-seq
MIRT2495744	hsa-miR-1227	CLIP-seq
MIRT857901	hsa-miR-3064-3p	CLIP-seq
MIRT1954792	hsa-miR-3620	CLIP-seq
MIRT1954799	hsa-miR-4292	CLIP-seq
MIRT2495745	hsa-miR-4455	CLIP-seq
MIRT2495746	hsa-miR-4715-3p	CLIP-seq
MIRT2495747	hsa-miR-545	CLIP-seq
MIRT2495748	hsa-miR-609	CLIP-seq
MIRT1954818	hsa-miR-637	CLIP-seq

Gene ontology (GO) Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	11160515
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	TAS	8119293
GO:0005246	Function	Calcium channel regulator activity	ISS	25527503
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	18535142, 32296183, 33961781, 37207277
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IBA
GO:0005891	Component	Voltage-gated calcium channel complex	IDA	11160515
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0005891	Component	Voltage-gated calcium channel complex	TAS	8119293
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IBA
GO:0006816	Process	Calcium ion transport	IDA	11160515
GO:0006816	Process	Calcium ion transport	IEA
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0008331	Function	High voltage-gated calcium channel activity	IBA
GO:0016020	Component	Membrane	IDA	16525042
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0045202	Component	Synapse	IEA
GO:0050852	Process	T cell receptor signaling pathway	IEA
GO:0060402	Process	Calcium ion transport into cytosol	ISS	25527503
GO:0061577	Process	Calcium ion transmembrane transport via high voltage-gated calcium channel	ISS	25527503
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0072659	Process	Protein localization to plasma membrane	ISS	25527503
GO:0098903	Process	Regulation of membrane repolarization during action potential	ISS	25527503
GO:1901843	Process	Positive regulation of high voltage-gated calcium channel activity	ISS
GO:1990454	Component	L-type voltage-gated calcium channel complex	ISS	25527503

Other IDs

• MIM: 601958
• HGNC: 1403
• e!Ensembl: ENSG00000167535

Protein

• UniProt ID: P54284
• Protein name: Voltage-dependent L-type calcium channel subunit beta-3 (CAB3) (Calcium channel voltage-dependent subunit beta 3)
• Protein function: Regulatory subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:8119293). Increases CACNA1B peak calcium current and shifts the voltage dependencies of channel activation and inactivation (By similarity
• PDB: 7MIX , 7MIY , 7UHF , 7UHG , 8E59 , 8E5A , 8E5B , 8EPL , 8FHS , 8WE6 , 8WE7 , 8WE8 , 8WE9 , 8X90 , 8X91 , 8X93
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00625	Guanylate_kin	176 → 356	Guanylate kinase	Domain
  PF12052	VGCC_beta4Aa_N	16 → 58	Voltage gated calcium channel subunit beta domain 4Aa N terminal	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed mostly in brain, colon and ovary. {ECO:0000269|PubMed:8119293}.
• Sequence:

  MYDDSYVPGFEDSEAGSADSYTSRPSLDSDVSLEEDRESARREVESQAQQQLERAKHKPV
  AFAVRTNVSYCGVLDEECPVQGSGVNFEAKDFLHIKEKYSNDWWIGRLVKEGGDIAFIPS
  PQRLESIRLKQEQKARRSGNPSSLSDIGNRRSPPPSLAKQKQKQAEHVPPYDVVPSMRPV
  VLVGPSLKGYEVTDMMQKALFDFLKHRFDGRISITRVTADLSLAKRSVLNNPGKRTIIER
  SSARSSIAEVQSEIERIFELAKSLQLVVLDADTINHPAQLAKTSLAPIIVFVKVSSPKVL
  QRLIRSRGKSQMKHLTVQMMAYDKLVQCPPESFDVILDENQLEDACEHLAEYLEVYWRAT
  HHPAPGPGLLGPPSAIPGLQNQQLLGERGEEHSPLERDSLMPSDEASESSRQAWTGSSQR
  SSRHLEEDYADAYQDLYQPHRQHTSGLPSANGHDPQDRLLAQDSEHNHSDRNWQRNRPWP
  KDSY

• Sequence length: 484

Pathways

KEGG Pathway	Reactome Pathway
MAPK signaling pathway	Presynaptic depolarization and calcium channel opening
Cardiac muscle contraction	Regulation of insulin secretion
Adrenergic signaling in cardiomyocytes	Phase 0 - rapid depolarisation
Oxytocin signaling pathway	Phase 2 - plateau phase
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
BIPOLAR DISORDER	—	GWAS catalog	21926972	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CYSTS	—	CTD	21239663	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (14)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	21926972		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	GWASDB_DG	21926972		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	25623948	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	26476274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corpus Luteum Cyst	Corpus Luteum Cyst	CTD_human_DG	21239663		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	7557998		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	37341859	Associate	★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	7557998		★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	BEFREE	22738334		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21242119		★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	CTD_human_DG	21239663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	39754246	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	37341859	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35924232	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

CACNB2 11 shared pathwaysMAPK signaling pathway, Cardiac muscle contraction, Adrenergic signaling in cardiomyocytes, Oxytocin signaling pathway, Hypertrophic cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Dilated cardiomyopathy, Phase 2 - plateau phase, Phase 0 - rapid depolarisation, Presynaptic depolarization and calcium channel opening, Regulation of insulin secretion Related via 11 shared pathways including MAPK signaling pathway, Cardiac muscle contraction. CACNA2D2 11 shared pathwaysMAPK signaling pathway, Cardiac muscle contraction, Adrenergic signaling in cardiomyocytes, Oxytocin signaling pathway, Hypertrophic cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Dilated cardiomyopathy, Phase 2 - plateau phase, Phase 0 - rapid depolarisation, Presynaptic depolarization and calcium channel opening, Regulation of insulin secretion Related via 11 shared pathways including MAPK signaling pathway, Cardiac muscle contraction. CACNA2D3 10 shared pathwaysMAPK signaling pathway, Cardiac muscle contraction, Adrenergic signaling in cardiomyocytes, Oxytocin signaling pathway, Hypertrophic cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Dilated cardiomyopathy, Phase 2 - plateau phase, Phase 0 - rapid depolarisation, Presynaptic depolarization and calcium channel opening Related via 10 shared pathways including MAPK signaling pathway, Cardiac muscle contraction. CACNA2D1 10 shared pathwaysMAPK signaling pathway, Cardiac muscle contraction, Adrenergic signaling in cardiomyocytes, Oxytocin signaling pathway, Hypertrophic cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Dilated cardiomyopathy, Phase 2 - plateau phase, Phase 0 - rapid depolarisation, Presynaptic depolarization and calcium channel opening Related via 10 shared pathways including MAPK signaling pathway, Cardiac muscle contraction. CACNB1 10 shared pathwaysMAPK signaling pathway, Cardiac muscle contraction, Adrenergic signaling in cardiomyocytes, Oxytocin signaling pathway, Hypertrophic cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Dilated cardiomyopathy, Phase 2 - plateau phase, Phase 0 - rapid depolarisation, Presynaptic depolarization and calcium channel opening Related via 10 shared pathways including MAPK signaling pathway, Cardiac muscle contraction.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CACNB2	0	[]	11	["MAPK signaling pathway","Cardiac muscle contraction","Adrenergic signaling in cardiomyocytes","Oxytocin signaling pathway","Hypertrophic cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy","Dilated cardiomyopathy","Phase 2 - plateau phase","Phase 0 - rapid depolarisation","Presynaptic depolarization and calcium channel opening","Regulation of insulin secretion"]	0	[]
CACNA2D2	0	[]	11	["MAPK signaling pathway","Cardiac muscle contraction","Adrenergic signaling in cardiomyocytes","Oxytocin signaling pathway","Hypertrophic cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy","Dilated cardiomyopathy","Phase 2 - plateau phase","Phase 0 - rapid depolarisation","Presynaptic depolarization and calcium channel opening","Regulation of insulin secretion"]	0	[]
CACNA2D3	0	[]	10	["MAPK signaling pathway","Cardiac muscle contraction","Adrenergic signaling in cardiomyocytes","Oxytocin signaling pathway","Hypertrophic cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy","Dilated cardiomyopathy","Phase 2 - plateau phase","Phase 0 - rapid depolarisation","Presynaptic depolarization and calcium channel opening"]	0	[]
CACNA2D1	0	[]	10	["MAPK signaling pathway","Cardiac muscle contraction","Adrenergic signaling in cardiomyocytes","Oxytocin signaling pathway","Hypertrophic cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy","Dilated cardiomyopathy","Phase 2 - plateau phase","Phase 0 - rapid depolarisation","Presynaptic depolarization and calcium channel opening"]	0	[]
CACNB1	0	[]	10	["MAPK signaling pathway","Cardiac muscle contraction","Adrenergic signaling in cardiomyocytes","Oxytocin signaling pathway","Hypertrophic cardiomyopathy","Arrhythmogenic right ventricular cardiomyopathy","Dilated cardiomyopathy","Phase 2 - plateau phase","Phase 0 - rapid depolarisation","Presynaptic depolarization and calcium channel opening"]	0	[]

Diseases Linked via Similar Genes

Schizophrenia Linked via 4 of 5 related genesCACNB2, CACNA2D2, CACNA2D3, CACNA2D1 Attention deficit hyperactivity disorder Linked via 3 of 5 related genesCACNB2, CACNA2D2, CACNA2D3 Major depressive disorder Linked via 3 of 5 related genesCACNB2, CACNA2D3, CACNA2D1 Neurodevelopmental disorder Linked via 3 of 5 related genesCACNA2D2, CACNA2D3, CACNA2D1 Alzheimer disease Linked via 2 of 5 related genesCACNB2, CACNA2D3

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Schizophrenia	4	["CACNB2","CACNA2D2","CACNA2D3","CACNA2D1"]
Attention deficit hyperactivity disorder	3	["CACNB2","CACNA2D2","CACNA2D3"]
Major depressive disorder	3	["CACNB2","CACNA2D3","CACNA2D1"]
Neurodevelopmental disorder	3	["CACNA2D2","CACNA2D3","CACNA2D1"]
Alzheimer disease	2	["CACNB2","CACNA2D3"]