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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	774
Gene name	Calcium voltage-gated channel subunit alpha1 B
Gene symbol	CACNA1B
Synonyms (NCBI Gene)	BIIICACNL1A5CACNNCav2.2DYT23NEDNEH
Chromosome	9
Chromosome location	9q34.3
Summary	The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1554738159	C>T	Pathogenic	Coding sequence variant, stop gained
rs1589093778	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1589095160	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1589112601	G>C	Pathogenic	Splice donor variant

408

Show/Hide all (408)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018028	hsa-miR-335-5p	Microarray	18185580
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT637819	hsa-miR-4504	HITS-CLIP	23824327
MIRT637818	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT670802	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT637819	hsa-miR-4504	HITS-CLIP	23824327
MIRT637818	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	23824327
MIRT649083	hsa-miR-4784	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT633850	hsa-miR-6844	HITS-CLIP	23824327
MIRT649082	hsa-miR-3915	HITS-CLIP	23824327
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	23824327
MIRT649080	hsa-miR-4689	HITS-CLIP	23824327
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	23824327
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	23824327
MIRT649083	hsa-miR-4784	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT633850	hsa-miR-6844	HITS-CLIP	23824327
MIRT649082	hsa-miR-3915	HITS-CLIP	23824327
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	23824327
MIRT649080	hsa-miR-4689	HITS-CLIP	23824327
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	23824327
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT637819	hsa-miR-4504	HITS-CLIP	23824327
MIRT637818	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT633850	hsa-miR-6844	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT573131	hsa-miR-3186-3p	PAR-CLIP	20371350
MIRT573130	hsa-miR-5739	PAR-CLIP	20371350
MIRT573129	hsa-miR-3960	PAR-CLIP	20371350
MIRT573128	hsa-miR-8072	PAR-CLIP	20371350
MIRT573127	hsa-miR-25-5p	PAR-CLIP	20371350
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	27418678
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	27418678
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	27418678
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	27418678
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	27418678
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	27418678
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	27418678
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	27418678
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	27418678
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	27418678
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	27418678
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	27418678
MIRT611747	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT611747	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT611747	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT611747	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT649082	hsa-miR-3915	HITS-CLIP	27418678
MIRT649082	hsa-miR-3915	HITS-CLIP	27418678
MIRT649082	hsa-miR-3915	HITS-CLIP	27418678
MIRT649082	hsa-miR-3915	HITS-CLIP	27418678
MIRT649080	hsa-miR-4689	HITS-CLIP	27418678
MIRT649080	hsa-miR-4689	HITS-CLIP	27418678
MIRT649080	hsa-miR-4689	HITS-CLIP	27418678
MIRT649080	hsa-miR-4689	HITS-CLIP	27418678
MIRT649083	hsa-miR-4784	HITS-CLIP	27418678
MIRT649083	hsa-miR-4784	HITS-CLIP	27418678
MIRT649083	hsa-miR-4784	HITS-CLIP	27418678
MIRT649083	hsa-miR-4784	HITS-CLIP	27418678
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	27418678
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	27418678
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	27418678
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	27418678
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	27418678
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	27418678
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	27418678
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	27418678
MIRT633850	hsa-miR-6844	HITS-CLIP	27418678
MIRT633850	hsa-miR-6844	HITS-CLIP	27418678
MIRT633850	hsa-miR-6844	HITS-CLIP	27418678
MIRT633850	hsa-miR-6844	HITS-CLIP	27418678
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	27418678
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	27418678
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	27418678
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	27418678
MIRT611750	hsa-miR-8485	HITS-CLIP	27418678
MIRT611750	hsa-miR-8485	HITS-CLIP	27418678
MIRT611750	hsa-miR-8485	HITS-CLIP	27418678
MIRT611750	hsa-miR-8485	HITS-CLIP	27418678
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT637819	hsa-miR-4504	HITS-CLIP	23824327
MIRT637818	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT670802	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT637819	hsa-miR-4504	HITS-CLIP	23824327
MIRT637818	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	23824327
MIRT649083	hsa-miR-4784	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT633850	hsa-miR-6844	HITS-CLIP	23824327
MIRT649082	hsa-miR-3915	HITS-CLIP	23824327
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	23824327
MIRT649080	hsa-miR-4689	HITS-CLIP	23824327
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	23824327
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT649084	hsa-miR-3150b-3p	HITS-CLIP	23824327
MIRT649083	hsa-miR-4784	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT633850	hsa-miR-6844	HITS-CLIP	23824327
MIRT649082	hsa-miR-3915	HITS-CLIP	23824327
MIRT649081	hsa-miR-1224-5p	HITS-CLIP	23824327
MIRT649080	hsa-miR-4689	HITS-CLIP	23824327
MIRT649079	hsa-miR-6858-5p	HITS-CLIP	23824327
MIRT649078	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT637821	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT637820	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT637819	hsa-miR-4504	HITS-CLIP	23824327
MIRT637818	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT633850	hsa-miR-6844	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611750	hsa-miR-8485	HITS-CLIP	23824327
MIRT611749	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT611748	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT611747	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT573131	hsa-miR-3186-3p	PAR-CLIP	20371350
MIRT573130	hsa-miR-5739	PAR-CLIP	20371350
MIRT573129	hsa-miR-3960	PAR-CLIP	20371350
MIRT573128	hsa-miR-8072	PAR-CLIP	20371350
MIRT573127	hsa-miR-25-5p	PAR-CLIP	20371350
MIRT857418	hsa-miR-1207-5p	CLIP-seq
MIRT857419	hsa-miR-1237	CLIP-seq
MIRT857420	hsa-miR-1248	CLIP-seq
MIRT857421	hsa-miR-1255a	CLIP-seq
MIRT857422	hsa-miR-1255b	CLIP-seq
MIRT857423	hsa-miR-1262	CLIP-seq
MIRT857424	hsa-miR-129-5p	CLIP-seq
MIRT857425	hsa-miR-1343	CLIP-seq
MIRT857426	hsa-miR-146b-3p	CLIP-seq
MIRT857427	hsa-miR-1913	CLIP-seq
MIRT857428	hsa-miR-3127-3p	CLIP-seq
MIRT857429	hsa-miR-3136-5p	CLIP-seq
MIRT857430	hsa-miR-3157-5p	CLIP-seq
MIRT857431	hsa-miR-3166	CLIP-seq
MIRT857432	hsa-miR-3170	CLIP-seq
MIRT857433	hsa-miR-3173-5p	CLIP-seq
MIRT857434	hsa-miR-3180-5p	CLIP-seq
MIRT857435	hsa-miR-3189-3p	CLIP-seq
MIRT857436	hsa-miR-324-3p	CLIP-seq
MIRT857437	hsa-miR-339-5p	CLIP-seq
MIRT857438	hsa-miR-3614-5p	CLIP-seq
MIRT857439	hsa-miR-3677-3p	CLIP-seq
MIRT857440	hsa-miR-3679-3p	CLIP-seq
MIRT857441	hsa-miR-3682-3p	CLIP-seq
MIRT857442	hsa-miR-3691-5p	CLIP-seq
MIRT857443	hsa-miR-3911	CLIP-seq
MIRT857444	hsa-miR-3978	CLIP-seq
MIRT857445	hsa-miR-4261	CLIP-seq
MIRT857446	hsa-miR-4436b-5p	CLIP-seq
MIRT857447	hsa-miR-4439	CLIP-seq
MIRT857448	hsa-miR-4636	CLIP-seq
MIRT857449	hsa-miR-4639-5p	CLIP-seq
MIRT857450	hsa-miR-4691-3p	CLIP-seq
MIRT857451	hsa-miR-4701-3p	CLIP-seq
MIRT857452	hsa-miR-4722-5p	CLIP-seq
MIRT857453	hsa-miR-4732-3p	CLIP-seq
MIRT857454	hsa-miR-4736	CLIP-seq
MIRT857455	hsa-miR-4752	CLIP-seq
MIRT857456	hsa-miR-4758-3p	CLIP-seq
MIRT857457	hsa-miR-4763-3p	CLIP-seq
MIRT857458	hsa-miR-4771	CLIP-seq
MIRT857459	hsa-miR-4779	CLIP-seq
MIRT857460	hsa-miR-499-3p	CLIP-seq
MIRT857461	hsa-miR-518d-5p	CLIP-seq
MIRT857462	hsa-miR-519b-5p	CLIP-seq
MIRT857463	hsa-miR-519c-5p	CLIP-seq
MIRT857464	hsa-miR-520a-5p	CLIP-seq
MIRT857465	hsa-miR-520c-5p	CLIP-seq
MIRT857466	hsa-miR-525-5p	CLIP-seq
MIRT857467	hsa-miR-526a	CLIP-seq
MIRT857468	hsa-miR-548a-3p	CLIP-seq
MIRT857469	hsa-miR-548e	CLIP-seq
MIRT857470	hsa-miR-548f	CLIP-seq
MIRT857471	hsa-miR-549	CLIP-seq
MIRT857472	hsa-miR-561	CLIP-seq
MIRT857473	hsa-miR-583	CLIP-seq
MIRT857474	hsa-miR-642b	CLIP-seq
MIRT857475	hsa-miR-765	CLIP-seq
MIRT857476	hsa-miR-874	CLIP-seq
MIRT857477	hsa-miR-922	CLIP-seq
MIRT857478	hsa-miR-943	CLIP-seq
MIRT857419	hsa-miR-1237	CLIP-seq
MIRT857420	hsa-miR-1248	CLIP-seq
MIRT1954666	hsa-miR-1914	CLIP-seq
MIRT1954667	hsa-miR-198	CLIP-seq
MIRT857437	hsa-miR-339-5p	CLIP-seq
MIRT857439	hsa-miR-3677-3p	CLIP-seq
MIRT1954668	hsa-miR-3689a-3p	CLIP-seq
MIRT1954669	hsa-miR-3689c	CLIP-seq
MIRT1954670	hsa-miR-4685-5p	CLIP-seq
MIRT1954671	hsa-miR-4703-3p	CLIP-seq
MIRT1954672	hsa-miR-4728-5p	CLIP-seq
MIRT857474	hsa-miR-642b	CLIP-seq
MIRT857475	hsa-miR-765	CLIP-seq
MIRT2192265	hsa-miR-1228	CLIP-seq
MIRT2192266	hsa-miR-128	CLIP-seq
MIRT2192267	hsa-miR-140-3p	CLIP-seq
MIRT2192268	hsa-miR-3120-3p	CLIP-seq
MIRT857437	hsa-miR-339-5p	CLIP-seq
MIRT857440	hsa-miR-3679-3p	CLIP-seq
MIRT2192269	hsa-miR-377	CLIP-seq
MIRT2192270	hsa-miR-451b	CLIP-seq
MIRT1954671	hsa-miR-4703-3p	CLIP-seq
MIRT857460	hsa-miR-499-3p	CLIP-seq
MIRT857474	hsa-miR-642b	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001540	Function	Amyloid-beta binding	IC	23376566
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	1321501
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IMP	25296916
GO:0005245	Function	Voltage-gated calcium channel activity	TAS	1321501
GO:0005262	Function	Calcium channel activity	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	11438518, 15728831, 20195357
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IBA
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0005891	Component	Voltage-gated calcium channel complex	TAS	1321501
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007268	Process	Chemical synaptic transmission	TAS	9030575
GO:0008331	Function	High voltage-gated calcium channel activity	IBA
GO:0008331	Function	High voltage-gated calcium channel activity	IMP	23376566
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0043025	Component	Neuronal cell body	IBA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IDA	23376566
GO:0055085	Process	Transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0098703	Process	Calcium ion import across plasma membrane	IBA
GO:1903235	Process	Positive regulation of calcium ion-dependent exocytosis of neurotransmitter	ISS
GO:1904645	Process	Response to amyloid-beta	IDA	23376566

MIM	HGNC	e!Ensembl
601012	1389	ENSG00000148408

Q00975

Protein name

Voltage-dependent N-type calcium channel subunit alpha-1B (Brain calcium channel III) (BIII) (Calcium channel, L type, alpha-1 polypeptide isoform 5) (Voltage-gated calcium channel subunit alpha Cav2.2)

Protein function

Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expressio

PDB

2LCM , 7MIX , 7MIY , 7VFS , 7VFU , 7VFV , 7VFW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	94 → 367	Ion transport protein	Family
PF00520	Ion_trans	481 → 720	Ion transport protein	Family
PF00520	Ion_trans	1149 → 1427	Ion transport protein	Family
PF00520	Ion_trans	1470 → 1719	Ion transport protein	Family
PF16905	GPHH	1728 → 1781	Voltage-dependent L-type calcium channel, IQ-associated	Family
PF08763	Ca_chan_IQ	1792 → 1869	Voltage gated calcium channel IQ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform Alpha-1b-1 and isoform Alpha-1b-2 are expressed in the central nervous system, but not in skeletal muscle or aorta. Expressed in the cerebral white matter, cortex, hippocampus, basal ganglia, and cerebellum (PubMed:30982612). {

Sequence

MVRFGDELGGRYGGPGGGERARGGGAGGAGGPGPGGLQPGQRVLYKQSIAQRARTMALYN
PIPVKQNCFTVNRSLFVFSEDNVVRKYAKRITEWPPFEYMILATIIANCIVLALEQHLPD
GDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFVFHKGSYLRNGWNVMDFVVVLTGILA
TAGTDFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMVPLLQIGLLLFFAILMFAII
GLEFYMGKFHKACFPNSTDAEPVGDFPCGKEAPARLCEGDTECREYWPGPNFGITNFDNI
LFAILTVFQCITMEGWTDILYNTNDAAGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFA
KERERVENRRAFLKLRRQQQIERELNGYLEWIFKAEEVMLAEEDRNAEEKSPLDVLKRAA
TKKSRNDLIHAEEGEDRFADLCAVGSPFARASLKSGKTESSSYFRRKEKMFRFFIRRMVK
AQSFYWVVLCVVALNTLCVAMVHYNQPRRLTTTLYFAEFVFLGLFLTEMSLKMYGLGPRS
YFRSSFNCFDFGVIVGSVFEVVWAAIKPGSSFGISVLRALRLLRIFKVTKYWSSLRNLVV
SLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFQDETPTTNFDTFPAAILTVFQIL
TGEDWNAVMYHGIESQGGVSKGMFSSFYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTK
DEEEMEEAANQKLALQKAKEVAEVSPMSAANISIAARQQNSAKARSVWEQRASQLRLQNL
RASCEALYSEMDPEERLRFATTRHLRPDMKTHLDRPLVVELGRDGARGPVGGKARPEAAE
APEGVDPPRRHHRHRDKDKTPAAGDQDRAEAPKAESGEPGAREERPRPHRSHSKEAAGPP
EARSERGRGPGPEGGRRHHRRGSPEEAAEREPRRHRAHRHQDPSKECAGAKGERRARHRG
GPRAGPREAESGEEPARRHRARHKAQPAHEAVEKETTEKEATEKEAEIVEADKEKELRNH
QPREPHCDLETSGTVTVGPMHTLPSTCLQKVEEQPEDADNQRNVTRMGSQPPDPNTIVHI
PVMLTGPLGEATVVPSGNVDLESQAEGKKEVEADDVMRSGPRPIVPYSSMFCLSPTNLLR
RFCHYIVTMRYFEVVILVVIALSSIALAAEDPVRTDSPRNNALKYLDYIFTGVFTFEMVI
KMIDLGLLLHPGAYFRDLWNILDFIVVSGALVAFAFSGSKGKDINTIKSLRVLRVLRPLK
TIKRLPKLKAVFDCVVNSLKNVLNILIVYMLFMFIFAVIAVQLFKGKFFYCTDESKELER
DCRGQYLDYEKEEVEAQPRQWKKYDFHYDNVLWALLTLFTVSTGEGWPMVLKHSVDATYE
EQGPSPGYRMELSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKVMSECSLEKNERACI
DFAISAKPLTRYMPQNRQSFQYKTWTFVVSPPFEYFIMAMIALNTVVLMMKFYDAPYEYE
LMLKCLNIVFTSMFSMECVLKIIAFGVLNYFRDAWNVFDFVTVLGSITDILVTEIAETNN
FINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQV
FGNIALDDDTSINRHNNFRTFLQALMLLFRSATGEAWHEIMLSCLSNQACDEQANATECG
SDFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFIRVWAEYDPAA
CGRISYNDMFEMLKHMSPPLGLGKKCPARVAYKRLVRMNMPISNEDMTVHFTSTLMALIR
TALEIKLAPAGTKQHQCDAELRKEISVVWANLPQKTLDLLVPPHKPDEMTVGKVYAALMI
FDFYKQNKTTRDQMQQAPGGLSQMGPVSLFHPLKATLEQTQPAVLRGARVFLRQKSSTSL
SNGGAIQNQESGIKESVSWGTQRTQDAPHEARPPLERGHSTEIPVGRSGALAVDVQMQSI
TRRGPDGEPQPGLESQGRAASMPRLAAETQPVTDASPMKRSISTLAQRPRGTHLCSTTPD
RPPPSQASSHHHHHRCHRRRDRKQRSLEKGPSLSADMDGAPSSAVGPGLPPGEGPTGCRR
ERERRQERGRSQERRQPSSSSSEKQRFYSCDRFGGREPPKPKPSLSSHPTSPTAGQEPGP
HPQGSGSVNGSPLLSTSGASTPGRGGRRQLPQTPLTPRPSITYKTANSSPIHFAGAQTSL
PAFSPGRLSRGLSEHNALLQRDPLSQPLAPGSRIGSDPYLGQRLDSEASVHALPEDTLTF
EEAVATNSGRSSRTSYVSSLTSQSHPLRRVPNGYHCTLGLSSGGRARHSYHHPDQDHWC

Sequence length

2339

Interactions

View interactions

	KEGG		Reactome
	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle Retrograde endocannabinoid signaling Cholinergic synapse Serotonergic synapse GABAergic synapse Dopaminergic synapse Type II diabetes mellitus Huntington disease Prion disease Pathways of neurodegeneration - multiple diseases Morphine addiction Nicotine addiction Chemical carcinogenesis - receptor activation		Presynaptic depolarization and calcium channel opening

150

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CACNA1B-related disorder	Likely pathogenic	rs2539447975	RCV003919306
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	Likely pathogenic; Pathogenic	rs778439899, rs1589095160, rs1589093778, rs1589112601, rs1554738159	RCV003448465 RCV000787344 RCV000787345 RCV000787346 RCV000787347
See cases	Likely pathogenic	rs2131366543	RCV002252454

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CACNA1B-related neurodevelopmental disorder	Uncertain significance	rs779077983	RCV001563588
Complex neurodevelopmental disorder with motor features	Uncertain significance; Conflicting classifications of pathogenicity	rs199500748, rs200719516	RCV005356222 RCV005356221
Dystonia 23	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs1959395759, rs1036442743, rs184841813, rs1554758384, rs200540820, rs201383337	RCV001331361 RCV001334561 RCV000169631 RCV000625897 RCV000791100 RCV001270072
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs866502446	RCV004558092
Familial cancer of breast	Benign; Likely benign	rs12115468	RCV005920859
Familial pancreatic carcinoma	Benign; Likely benign	rs12115468	RCV005920861
Gastric cancer	Benign	rs6559265	RCV005918150
Lung cancer	Benign; Likely benign	rs12115468	RCV005920862
Malignant tumor of esophagus	Benign; Likely benign	rs6559265, rs12115468	RCV005918149 RCV005920860
Ovarian serous cystadenocarcinoma	Benign	rs73669855	RCV005918576
Uterine carcinosarcoma	Benign	rs2278972	RCV005926170
Uterine corpus endometrial carcinoma	Benign	rs6559265	RCV005918151

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arrhythmias Cardiac	Associate	25296916, 26157024
Astrocytoma	Associate	11300931
Autism Spectrum Disorder	Associate	35773312
Bipolar Disorder	Associate	19065143, 21057379, 25730879, 39999946, 40562893
Blepharospasm	Associate	33051750
Breast Neoplasms	Stimulate	28127114, 36137995
Carcinoma Non Small Cell Lung	Associate	21738778, 28127114
Cerebral Infarction	Associate	21166801
Depression Postpartum	Associate	30982612
Dyskinesia Drug Induced	Associate	30982612
Dyskinesias	Associate	30982612
Dystonia	Associate	35041927
Dystonic Disorders	Associate	33051750
Edema	Inhibit	27487831
Epilepsy	Associate	30982612, 37095367
Glioblastoma	Stimulate	11300931
Glioma	Associate	35777045
Hyperkinesis	Associate	30982612
Immunologic Deficiency Syndromes	Associate	19748655
Muscle Hypotonia	Associate	30982612
Muscular Atrophy Spinal	Associate	36607273
Muscular Diseases	Associate	31254144
Myoclonic dystonia	Associate	25296916, 26157024, 35773312
Neoplasm Metastasis	Associate	36137995
Neoplasms	Associate	11300931, 26052950, 31181726
Neuralgia	Associate	28127114
Neurologic Manifestations	Associate	30982612
Obesity	Associate	28476931
Pain	Associate	23536870, 38128761
Pediatric acute onset neuropsychiatric syndrome	Associate	35773312
Pneumonia Lipid	Associate	7468588
Schizophrenia	Associate	21057379, 26462458, 29032150, 39999946
Torticollis	Associate	33051750

CACNA1B (calcium voltage-gated channel subunit alpha1 B)