Identity
HGNC
LOCATION
2q23.3
LOCUSID
ALIAS
CAB4,CACNLB4,EA5,EIG9,EJM,EJM4,EJM6
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 785
MIM: 601949
HGNC: 1404
Ensembl: ENSG00000182389
Variants:
dbSNP: 785
ClinVar: 785
TCGA: ENSG00000182389
COSMIC: CACNB4
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA448871 | celecoxib | Chemical | Pathway | associated | 22336956 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32176688 | 2020 | A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions. | 9 |
| 32176688 | 2020 | A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions. | 9 |
| 24875574 | 2014 | The juvenile myoclonic epilepsy mutant of the calcium channel β(4) subunit displays normal nuclear targeting in nerve and muscle cells. | 4 |
| 24875574 | 2014 | The juvenile myoclonic epilepsy mutant of the calcium channel β(4) subunit displays normal nuclear targeting in nerve and muscle cells. | 4 |
| 23756480 | 2013 | The quest for juvenile myoclonic epilepsy genes. | 19 |
| 23756480 | 2013 | The quest for juvenile myoclonic epilepsy genes. | 19 |
| 22892567 | 2012 | Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy. | 29 |
| 22892567 | 2012 | Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy. | 29 |
| 21220418 | 2011 | The Ca2+ channel beta4c subunit interacts with heterochromatin protein 1 via a PXVXL binding motif. | 18 |
| 21297076 | 2011 | Haplotype association mapping of acute lung injury in mice implicates activin a receptor, type 1. | 25 |
| 21220418 | 2011 | The Ca2+ channel beta4c subunit interacts with heterochromatin protein 1 via a PXVXL binding motif. | 18 |
| 21297076 | 2011 | Haplotype association mapping of acute lung injury in mice implicates activin a receptor, type 1. | 25 |
| 20200978 | 2010 | Replication of previous genome-wide association studies of bone mineral density in premenopausal American women. | 8 |
| 20200978 | 2010 | Replication of previous genome-wide association studies of bone mineral density in premenopausal American women. | 8 |
| 18446307 | 2008 | Episodic ataxia: SLC1A3 and CACNB4 do not explain the apparent genetic heterogeneity. | 6 |
Citation
Dessen P
CACNB4 (calcium voltage-gated channel auxiliary subunit beta 4)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61371/cacnb4-(calcium-voltage-gated-channel-auxiliary-subunit-beta-4)
