CACNA1D (calcium voltage-gated channel subunit alpha1 D)

2013-11-01  

Identity

HGNC
CACNA1D
LOCATION
3p21.1
LOCUSID
776
ALIAS
CACH3,CACN4,CACNL1A2,CCHL1A2,Cav1.3,PASNA,SANDD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 776
MIM: 114206
HGNC: 1391
Ensembl: ENSG00000157388

Variants:

dbSNP: 776
ClinVar: 776
TCGA: ENSG00000157388
COSMIC: CACNA1D

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157388ENST00000288139Q01668
ENSG00000157388ENST00000350061Q01668
ENSG00000157388ENST00000422281Q01668
ENSG00000157388ENST00000481085H7C4S8
ENSG00000157388ENST00000481478Q59GD8
ENSG00000157388ENST00000636448A0A1B0GW98
ENSG00000157388ENST00000636570A0A1B0GUN6
ENSG00000157388ENST00000636627A0A1B0GWE1
ENSG00000157388ENST00000636723A0A1B0GWF7
ENSG00000157388ENST00000636938A0A1B0GUB6
ENSG00000157388ENST00000637301A0A1B0GU49
ENSG00000157388ENST00000637424A0A1B0GTN0
ENSG00000157388ENST00000637714A0A1B0GUH2
ENSG00000157388ENST00000638120A0A1B0GTP8
ENSG00000157388ENST00000638129A0A1B0GVI2
ENSG00000157388ENST00000640483A0A1W2PQ56

Expression (GTEx)

0
5
10
15
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
Tight junctionKEGGko04530
GnRH signaling pathwayKEGGko04912
Type II diabetes mellitusKEGGko04930
Alzheimer's diseaseKEGGko05010
MAPK signaling pathwayKEGGhsa04010
Calcium signaling pathwayKEGGhsa04020
Tight junctionKEGGhsa04530
GnRH signaling pathwayKEGGhsa04912
Type II diabetes mellitusKEGGhsa04930
Alzheimer's diseaseKEGGhsa05010
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Vascular smooth muscle contractionKEGGhsa04270
Vascular smooth muscle contractionKEGGko04270
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Carbohydrate digestion and absorptionKEGGko04973
Carbohydrate digestion and absorptionKEGGhsa04973
Glutamatergic synapseKEGGko04724
Glutamatergic synapseKEGGhsa04724
Cholinergic synapseKEGGhsa04725
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727
Dopaminergic synapseKEGGko04728
Dopaminergic synapseKEGGhsa04728
Serotonergic synapseKEGGhsa04726
Retrograde endocannabinoid signalingKEGGhsa04723
Retrograde endocannabinoid signalingKEGGko04723
Amphetamine addictionKEGGhsa05031
Amphetamine addictionKEGGko05031
Circadian entrainmentKEGGhsa04713
Circadian entrainmentKEGGko04713
Insulin secretionKEGGhsa04911
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
Renin secretionKEGGhsa04924
Renin secretionKEGGko04924
Muscle contractionREACTOMER-HSA-397014
MetabolismREACTOMER-HSA-1430728
Integration of energy metabolismREACTOMER-HSA-163685
Regulation of insulin secretionREACTOMER-HSA-422356
Adrenaline,noradrenaline inhibits insulin secretionREACTOMER-HSA-400042
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
NCAM1 interactionsREACTOMER-HSA-419037
Aldosterone synthesis and secretionKEGGhsa04925
Aldosterone synthesis and secretionKEGGko04925
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
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
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
PA33748PRKACAGenePathwayassociated
PA33749PRKACBGenePathwayassociated
PA33750PRKACGGenePathwayassociated
PA448871celecoxibChemicalPathwayassociated22336956
PA451846valproic acidChemicalPathwayassociated23407051

References

Pubmed IDYearTitleCitations
383783732024Association between CACNA1D polymorphisms and hypospadias in a southern Chinese population.0
387831172024Ca(V)1.3 channel clusters characterized by live-cell and isolated plasma membrane nanoscopy.0
383783732024Association between CACNA1D polymorphisms and hypospadias in a southern Chinese population.0
387831172024Ca(V)1.3 channel clusters characterized by live-cell and isolated plasma membrane nanoscopy.0
365922242023CACNA1D-Related Channelopathies: From Hypertension to Autism.3
369490592023CACNA1D overexpression and voltage-gated calcium channels in prostate cancer during androgen deprivation.1
376989392023The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice.2
378465792023CACNA1D Gene Polymorphisms Associate With Increased Blood Pressure and Salt Sensitivity of Blood Pressure in White Individuals.0
365922242023CACNA1D-Related Channelopathies: From Hypertension to Autism.3
369490592023CACNA1D overexpression and voltage-gated calcium channels in prostate cancer during androgen deprivation.1
376989392023The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice.2
378465792023CACNA1D Gene Polymorphisms Associate With Increased Blood Pressure and Salt Sensitivity of Blood Pressure in White Individuals.0
357792522022Histopathology and Genetic Causes of Primary Aldosteronism in Young Adults.3
363500632022The ubiquitin E3 ligase Parkin regulates neuronal Ca(V)1.3 channel functional expression.3
364306902022Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy.3

Citation

Dessen P

CACNA1D (calcium voltage-gated channel subunit alpha1 D)

Atlas Genet Cytogenet Oncol Haematol. 2013-11-01

Online version: http://atlasgeneticsoncology.org/gene/53588/cacna1d-(calcium-voltage-gated-channel-subunit-alpha1-d)