CACNA1A (calcium voltage-gated channel subunit alpha1 A)

2016-10-01  

Identity

HGNC
CACNA1A
LOCATION
19p13.13
LOCUSID
773
ALIAS
APCA,BI,CACNL1A4,CAV2.1,DEE42,EA2,EIEE42,FHM,HPCA,MHP,MHP1,SCA6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 773
MIM: 601011
HGNC: 1388
Ensembl: ENSG00000141837

Variants:

dbSNP: 773
ClinVar: 773
TCGA: ENSG00000141837
COSMIC: CACNA1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141837ENST00000360228O00555
ENSG00000141837ENST00000573710A0A1C7CYY9
ENSG00000141837ENST00000573891I3L391
ENSG00000141837ENST00000574974I3L2V5
ENSG00000141837ENST00000585802K7EKF7
ENSG00000141837ENST00000587525K7EQ95
ENSG00000141837ENST00000592864K7EIF8
ENSG00000141837ENST00000614285A0A087WW63
ENSG00000141837ENST00000635727A0A1B0GU81
ENSG00000141837ENST00000635895A0A384DVW2
ENSG00000141837ENST00000636012A0A1B0GUS3
ENSG00000141837ENST00000636058A0A1B0GUE5
ENSG00000141837ENST00000636389A0A1B0GU74
ENSG00000141837ENST00000636473A0A1B0GUM7
ENSG00000141837ENST00000636549B5TYJ1
ENSG00000141837ENST00000636768A0A1B0GUP3
ENSG00000141837ENST00000637276O00555
ENSG00000141837ENST00000637297A0A1B0GTG6
ENSG00000141837ENST00000637432O00555
ENSG00000141837ENST00000637736A0A1B0GTW2
ENSG00000141837ENST00000637769A0A1B0GTN7
ENSG00000141837ENST00000637777A0A1B0GVD8
ENSG00000141837ENST00000637819A0A1B0GVX1
ENSG00000141837ENST00000637927A0A1B0GTI4
ENSG00000141837ENST00000638009O00555
ENSG00000141837ENST00000638029A0A087WW63
ENSG00000141837ENST00000664864A0A590UJK2

Expression (GTEx)

0
50
100
150
200
250
300
350
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
Calcium signaling pathwayKEGGko04020
Long-term depressionKEGGko04730
Taste transductionKEGGko04742
Type II diabetes mellitusKEGGko04930
MAPK signaling pathwayKEGGhsa04010
Calcium signaling pathwayKEGGhsa04020
Long-term depressionKEGGhsa04730
Taste transductionKEGGhsa04742
Type II diabetes mellitusKEGGhsa04930
Glutamatergic synapseKEGGko04724
Glutamatergic synapseKEGGhsa04724
Cholinergic synapseKEGGhsa04725
Synaptic vesicle cycleKEGGko04721
Synaptic vesicle cycleKEGGhsa04721
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727
Dopaminergic synapseKEGGko04728
Dopaminergic synapseKEGGhsa04728
Serotonergic synapseKEGGhsa04726
Retrograde endocannabinoid signalingKEGGhsa04723
Retrograde endocannabinoid signalingKEGGko04723
Morphine addictionKEGGhsa05032
Morphine addictionKEGGko05032
Nicotine addictionKEGGhsa05033
Nicotine addictionKEGGko05033
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium ChannelsREACTOMER-HSA-112308
MetabolismREACTOMER-HSA-1430728
Integration of energy metabolismREACTOMER-HSA-163685
Regulation of insulin secretionREACTOMER-HSA-422356

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
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
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotationassociatedPD
PA448871celecoxibChemicalPathwayassociated22336956
PA452229antidepressantsChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
365922232023CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options.4
373420322023High-Throughput Sequencing Data Reveal an Antiangiogenic Role of HNF4A-Mediated CACNA1A/VEGFA Axis in Proliferative Diabetic Retinopathy.2
381744952023Adult-onset Migraine and Very Late Onset Ataxia Due to a Novel Pathogenic Variant of the CACNA1A Gene.0
365922232023CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options.4
373420322023High-Throughput Sequencing Data Reveal an Antiangiogenic Role of HNF4A-Mediated CACNA1A/VEGFA Axis in Proliferative Diabetic Retinopathy.2
381744952023Adult-onset Migraine and Very Late Onset Ataxia Due to a Novel Pathogenic Variant of the CACNA1A Gene.0
342634512022Genotype-phenotype correlation of CACNA1A variants in children with epilepsy.6
348061302022The complexities of CACNA1A in clinical neurogenetics.11
357227452022Clinical and genetic characterization of CACNA1A-related disease.9
342634512022Genotype-phenotype correlation of CACNA1A variants in children with epilepsy.6
348061302022The complexities of CACNA1A in clinical neurogenetics.11
357227452022Clinical and genetic characterization of CACNA1A-related disease.9
330869832021Adrenergic Ca(V)1.2 Activation via Rad Phosphorylation Converges at α(1C) I-II Loop.25
334135312021A CACNA1A variant associated with trigeminal neuralgia alters the gating of Cav2.1 channels.9
335578842021The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function.10

Citation

Dessen P

CACNA1A (calcium voltage-gated channel subunit alpha1 A)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56224/img/teaching-explorer/js/lib/all.min.js