CACNB2
Summary: This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013].
Loading, please wait...
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:600003 Ensembl IDEnsembl:ENSG00000165995 HGNC IDHGNC:HGNC:1402 PHARMGKB IDPA88 Map Location10p12.33-p12.31 |
GO terms in CACNB2
Loading, please wait...
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
CC | TAS | GO:0005886 | plasma membrane |
CC | NAS | GO:0005887 | integral component of plasma membrane |
CC | IBA | GO:0005891 | voltage-gated calcium channel complex |
CC | IDA | GO:0005891 | voltage-gated calcium channel complex |
CC | IDA | GO:1990454 | L-type voltage-gated calcium channel complex |
BP | IBA | GO:0007268 | chemical synaptic transmission |
Gene expression in normal tissue: CACNB2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CACNB2
Loading, please wait...
Database | Pathway ID | Pathway Des. |
---|---|---|
kegg | hsa04010 | MAPK signaling pathway - Homo sapiens (human) |
kegg | hsa04260 | Cardiac muscle contraction - Homo sapiens (human) |
kegg | hsa04261 | Adrenergic signaling in cardiomyocytes - Homo sapiens (human) |
kegg | hsa04921 | Oxytocin signaling pathway - Homo sapiens (human) |
kegg | hsa05410 | Hypertrophic cardiomyopathy (HCM) - Homo sapiens (human) |
kegg | hsa05412 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) - Homo sapiens (human) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in CACNB2
Loading, please wait...
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
---|---|---|---|---|---|---|---|---|
No matching records found |