Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	784
Gene name	Calcium voltage-gated channel auxiliary subunit beta 3
Gene symbol	CACNB3
Synonyms (NCBI Gene)	CAB3CACNLB3
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

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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

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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

MIM	HGNC	e!Ensembl
601958	1403	ENSG00000167535

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
PF12052	VGCC_beta4Aa_N	16 → 58	Voltage gated calcium channel subunit beta domain 4Aa N terminal	Domain
PF00625	Guanylate_kin	176 → 356	Guanylate kinase	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

Interactions

View interactions

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)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CYSTS	—	CTD	★★★★★ ★★☆☆☆ 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

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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

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