full name
calcium voltage-gated channel auxiliary subunit beta 4
synonyms
CAB4, CACNLB4, EA5, EIG9, EJM, EJM4, EJM6, CACNB4, ENSG00000182389
HGNC
HGNC:1404
Entrez Gene
Gene:785
ENSEMBL
ENSG00000182389
location
chr: 2
start: 152689285
stop: 152955593
strand: -
OMIM
OMIM:601949:
CACNB4
(Autosomal dominant inheritance)
OMIM:613855:
Episodic ataxia, type 5
OMIM:607682:
{Epilepsy, idiopathic generalized, susceptibility to, 9}
OMIM:607682:
{Epilepsy, juvenile myoclonic, susceptibility to, 6}
transcripts
NM_001145798.1
NM_000726.3
NM_001005746.2
NM_001005747.2
pathways
Adrenergic signaling in cardiomyocytes
[NCBI:908257]
[KEGG:hsa04261]
[PUBMED:15232578]
[PUBMED:20923637]
[PUBMED:10571541]
[PUBMED:11604549]
[PUBMED:17988210]
[PUBMED:11805843]
[PUBMED:15142747]
[PUBMED:21212391]
[PUBMED:20658186]
[PUBMED:16765984]
[PUBMED:19874988]
[PUBMED:19883653]
[PUBMED:15979723]
[PUBMED:18407781]
[PUBMED:22022314]
[PUBMED:12439640]
[PUBMED:17826821]
[PUBMED:15765137]
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
[NCBI:117293]
[KEGG:hsa05412]
[PUBMED:16823481]
[PUBMED:19205777]
[PUBMED:11716909]
[PUBMED:12270949]
[PUBMED:18382419]
[PUBMED:16101641]
[PUBMED:16124859]
[PUBMED:17413274]
Axon guidance
[NCBI:83065]
[KEGG:hsa04360]
[NCBI:1270303]
[REACTOME:R-HSA-422475]
[PUBMED:14682358]
[PUBMED:15084255]
[PUBMED:11687826]
[PUBMED:15818466]
[PUBMED:15363605]
[PUBMED:12471249]
[PUBMED:15630019]
[PUBMED:11891122]
[PUBMED:15960985]
[PUBMED:12677003]
Cardiac conduction
[NCBI:1339115]
[REACTOME:R-HSA-5576891]
[PUBMED:19808464]
[PUBMED:26140724]
[PUBMED:21357845]
Cardiac muscle contraction
[NCBI:93344]
[KEGG:hsa04260]
[PUBMED:16799263]
[PUBMED:18981594]
[PUBMED:12763850]
[PUBMED:16096350]
[PUBMED:16552170]
[PUBMED:15736582]
[PUBMED:14659803]
[PUBMED:17988210]
[PUBMED:11805843]
[PUBMED:10747208]
[PUBMED:16701909]
[PUBMED:11294886]
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels
[NCBI:1268767]
[REACTOME:R-HSA-112308]
Developmental Biology
[NCBI:1270302]
[REACTOME:R-HSA-1266738]
Dilated cardiomyopathy
[NCBI:121494]
[KEGG:hsa05414]
[PUBMED:11524405]
[PUBMED:11805847]
[PUBMED:12270949]
[PUBMED:14522402]
[PUBMED:19017683]
[PUBMED:15146239]
[PUBMED:18672201]
[PUBMED:19273156]
[PUBMED:19246813]
[PUBMED:11716909]
[PUBMED:16817756]
Hypertrophic cardiomyopathy (HCM)
[NCBI:114229]
[KEGG:hsa05410]
[PUBMED:11805847]
[PUBMED:18572189]
[PUBMED:14711353]
[PUBMED:19136482]
[PUBMED:18056765]
[PUBMED:11225594]
[PUBMED:12844200]
[PUBMED:10615904]
[PUBMED:11716909]
[PUBMED:11371514]
[PUBMED:12270949]
MAPK signaling pathway
[NCBI:83048]
[KEGG:hsa04010]
[PUBMED:11749383]
[PUBMED:12566928]
[PUBMED:12849693]
[PUBMED:12676795]
[PUBMED:12947395]
[PUBMED:14597384]
[PUBMED:11369511]
[PUBMED:12191611]
[PUBMED:12390245]
Muscle contraction
[NCBI:1269868]
[REACTOME:R-HSA-397014]
NCAM signaling for neurite out-growth
[NCBI:1270312]
[REACTOME:R-HSA-375165]
[PUBMED:18760361]
[PUBMED:12587671]
[PUBMED:15662836]
[PUBMED:17975827]
[PUBMED:15153429]
[PUBMED:12700044]
NCAM1 interactions
[NCBI:1270313]
[REACTOME:R-HSA-419037]
[PUBMED:18607724]
[PUBMED:15662836]
Neuronal System
[NCBI:1268763]
[REACTOME:R-HSA-112316]
Oxytocin signaling pathway
[NCBI:952859]
[KEGG:hsa04921]
[PUBMED:23356278]
[PUBMED:9219843]
[PUBMED:20626426]
[PUBMED:18555543]
[PUBMED:22190926]
[PUBMED:21981277]
[PUBMED:9575824]
[PUBMED:22227279]
[PUBMED:19840865]
[PUBMED:11861513]
[PUBMED:9326674]
[PUBMED:12433531]
[PUBMED:18655881]
[PUBMED:23335873]
[PUBMED:22902539]
[PUBMED:16156781]
[PUBMED:20141572]
[PUBMED:14715914]
[PUBMED:12009385]
[PUBMED:16787565]
[PUBMED:16966388]
Phase 0 - rapid depolarisation
[NCBI:1339117]
[REACTOME:R-HSA-5576892]
[PUBMED:21357845]
[PUBMED:19808464]
Phase 2 - plateau phase
[NCBI:1339119]
[REACTOME:R-HSA-5576893]
[PUBMED:21357845]
[PUBMED:19808464]
Transmission across Chemical Synapses
[NCBI:1268766]
[REACTOME:R-HSA-112315]
