CACNB4 (calcium voltage-gated channel auxiliary subunit beta 4)

2014-11-01  

Identity

HGNC
CACNB4
LOCATION
2q23.3
LOCUSID
785
ALIAS
CAB4,CACNLB4,EA5,EIG9,EJM,EJM4,EJM6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 785
MIM: 601949
HGNC: 1404
Ensembl: ENSG00000182389

Variants:

dbSNP: 785
ClinVar: 785
TCGA: ENSG00000182389
COSMIC: CACNB4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182389ENST00000201943O00305
ENSG00000182389ENST00000360283A0A1B0GXG0
ENSG00000182389ENST00000397327E7EN11
ENSG00000182389ENST00000427385A0A1C7CYX2
ENSG00000182389ENST00000434468C9J224
ENSG00000182389ENST00000439467H0Y476
ENSG00000182389ENST00000534999O00305
ENSG00000182389ENST00000539935O00305
ENSG00000182389ENST00000635738A0A1B0GTX6
ENSG00000182389ENST00000635890A0A1B0GU07
ENSG00000182389ENST00000635904A0A1B0GUW8
ENSG00000182389ENST00000635930A0A1B0GU42
ENSG00000182389ENST00000636108A0A1B0GUM9
ENSG00000182389ENST00000636129A0A1B0GU05
ENSG00000182389ENST00000636130A0A1B0GTS4
ENSG00000182389ENST00000636350A0A1B0GTA9
ENSG00000182389ENST00000636380A0A1B0GVF0
ENSG00000182389ENST00000636390A0A1B0GVP7
ENSG00000182389ENST00000636442A0A1B0GTN8
ENSG00000182389ENST00000636496A0A1B0GUU5
ENSG00000182389ENST00000636507A0A1B0GUU8
ENSG00000182389ENST00000636598H0Y476
ENSG00000182389ENST00000636617A0A1B0GVU5
ENSG00000182389ENST00000636664A0A1B0GTH0
ENSG00000182389ENST00000636721A0A1B0GW63
ENSG00000182389ENST00000636762A0A1B0GWG5
ENSG00000182389ENST00000636773A0A1B0GTS4
ENSG00000182389ENST00000636785A0A1B0GTP6
ENSG00000182389ENST00000636901A0A1B0GUK4
ENSG00000182389ENST00000636947A0A1B0GV16
ENSG00000182389ENST00000637007A0A1B0GTN2
ENSG00000182389ENST00000637132A0A1B0GVT6
ENSG00000182389ENST00000637216A0A1B0GWF9
ENSG00000182389ENST00000637217H0Y476
ENSG00000182389ENST00000637232A0A1B0GUJ7
ENSG00000182389ENST00000637284A0A1B0GTP5
ENSG00000182389ENST00000637309A0A1B0GUI8
ENSG00000182389ENST00000637312A0A1B0GUK3
ENSG00000182389ENST00000637330A0A1B0GW81
ENSG00000182389ENST00000637418A0A1B0GTF6
ENSG00000182389ENST00000637436A0A1B0GTL1
ENSG00000182389ENST00000637491E7DBM8
ENSG00000182389ENST00000637514A0A1B0GTP5
ENSG00000182389ENST00000637535A0A1B0GTH0
ENSG00000182389ENST00000637547A0A1B0GUI5
ENSG00000182389ENST00000637550A0A1B0GU32
ENSG00000182389ENST00000637762A0A1B0GTX2
ENSG00000182389ENST00000637779A0A1B0GTK1
ENSG00000182389ENST00000637828A0A1B0GVB2
ENSG00000182389ENST00000637956A0A1B0GU42
ENSG00000182389ENST00000638005O00305
ENSG00000182389ENST00000638040A0A1B0GTX8
ENSG00000182389ENST00000638056A0A1B0GW58
ENSG00000182389ENST00000638091A0A1B0GU53
ENSG00000182389ENST00000638150A0A1B0GVG1

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
MAPK signaling pathwayKEGGko04010
MAPK signaling pathwayKEGGhsa04010
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium ChannelsREACTOMER-HSA-112308
Muscle contractionREACTOMER-HSA-397014
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
NCAM1 interactionsREACTOMER-HSA-419037
Cardiac conductionREACTOMER-HSA-5576891
Phase 0 - rapid depolarisationREACTOMER-HSA-5576892
Phase 2 - plateau phaseREACTOMER-HSA-5576893

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA448871celecoxibChemicalPathwayassociated22336956

References

Pubmed IDYearTitleCitations
321766882020A 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
321766882020A 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
248755742014The juvenile myoclonic epilepsy mutant of the calcium channel β(4) subunit displays normal nuclear targeting in nerve and muscle cells.4
248755742014The juvenile myoclonic epilepsy mutant of the calcium channel β(4) subunit displays normal nuclear targeting in nerve and muscle cells.4
237564802013The quest for juvenile myoclonic epilepsy genes.19
237564802013The quest for juvenile myoclonic epilepsy genes.19
228925672012Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy.29
228925672012Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy.29
212204182011The Ca2+ channel beta4c subunit interacts with heterochromatin protein 1 via a PXVXL binding motif.18
212970762011Haplotype association mapping of acute lung injury in mice implicates activin a receptor, type 1.25
212204182011The Ca2+ channel beta4c subunit interacts with heterochromatin protein 1 via a PXVXL binding motif.18
212970762011Haplotype association mapping of acute lung injury in mice implicates activin a receptor, type 1.25
202009782010Replication of previous genome-wide association studies of bone mineral density in premenopausal American women.8
202009782010Replication of previous genome-wide association studies of bone mineral density in premenopausal American women.8
184463072008Episodic 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