CACNA1C (calcium voltage-gated channel subunit alpha1 C)

2007-02-01  

Identity

HGNC
CACNA1C
LOCATION
12p13.33
LOCUSID
775
ALIAS
CACH2,CACN2,CACNL1A1,CCHL1A1,CaV1.2,LQT8,TS,TS.
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 775
MIM: 114205
HGNC: 1390
Ensembl: ENSG00000151067

Variants:

dbSNP: 775
ClinVar: 775
TCGA: ENSG00000151067
COSMIC: CACNA1C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151067ENST00000327702A0A0A0MR67
ENSG00000151067ENST00000335762F5H522
ENSG00000151067ENST00000344100Q13936
ENSG00000151067ENST00000347598Q13936
ENSG00000151067ENST00000399591Q13936
ENSG00000151067ENST00000399595Q13936
ENSG00000151067ENST00000399597Q13936
ENSG00000151067ENST00000399601Q13936
ENSG00000151067ENST00000399603Q13936
ENSG00000151067ENST00000399606Q13936
ENSG00000151067ENST00000399617A0A0A0MSA1
ENSG00000151067ENST00000399621Q13936
ENSG00000151067ENST00000399629Q13936
ENSG00000151067ENST00000399634E9PDI6
ENSG00000151067ENST00000399637Q13936
ENSG00000151067ENST00000399638Q13936
ENSG00000151067ENST00000399641Q13936
ENSG00000151067ENST00000399644Q13936
ENSG00000151067ENST00000399649Q13936
ENSG00000151067ENST00000399655Q13936
ENSG00000151067ENST00000402845Q13936
ENSG00000151067ENST00000406454F5GY28
ENSG00000151067ENST00000465278A0A087WUX4
ENSG00000151067ENST00000480911F5H638
ENSG00000151067ENST00000543114F5H0X0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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 potentiationKEGGko04720
Taste transductionKEGGko04742
GnRH signaling pathwayKEGGko04912
Type II diabetes mellitusKEGGko04930
Alzheimer's diseaseKEGGko05010
MAPK signaling pathwayKEGGhsa04010
Calcium signaling pathwayKEGGhsa04020
Long-term potentiationKEGGhsa04720
Taste transductionKEGGhsa04742
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
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
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
PA10407calcium channel blockersChemicalClinicalAnnotationassociatedPD16610939
PA166151827adverse eventsDiseaseClinicalAnnotationassociatedPD28391406
PA33748PRKACAGenePathwayassociated
PA33749PRKACBGenePathwayassociated
PA33750PRKACGGenePathwayassociated
PA443309AlcoholismDiseaseClinicalAnnotationassociatedPD31634677
PA443796Coronary Artery DiseaseDiseaseClinicalAnnotationassociatedPD20031608
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD16610939, 20031608
PA444704Premature BirthDiseaseClinicalAnnotationassociatedPD28391406
PA447199Bipolar DisorderDiseaseClinicalAnnotation, Literature, MultilinkAnnotationassociatedPD24718920, 31634677
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotationassociatedPD19388002
PA448073ethanolChemicalClinicalAnnotationassociatedPD31634677
PA448499atenololChemicalClinicalAnnotationassociatedPD20031608
PA448871celecoxibChemicalPathwayassociated22336956
PA449015citalopramChemicalClinicalAnnotationassociatedPD19388002
PA449841haloperidolChemicalMultilinkAnnotationassociated27023437
PA450633nimodipineChemicalClinicalAnnotationassociatedPD19205682
PA451258ritodrineChemicalClinicalAnnotationassociatedPD28391406
PA451846valproic acidChemicalPathwayassociated23407051
PA451868verapamilChemicalClinicalAnnotationassociatedPD20031608

References

Pubmed IDYearTitleCitations
386578952024Effects of CACNA1C and ANK3 on cognitive function in patients with bipolar disorder.0
386578952024Effects of CACNA1C and ANK3 on cognitive function in patients with bipolar disorder.0
351286182023BDNF Levels According to Variations in the CACNA1C Gene: Sex-Based Disparity.0
357862022023Impact of ZNF804A rs1344706 or CACNA1C rs1006737 polymorphisms on cognition in patients with severe mental disorders: A systematic review and meta-analysis.3
364363282023A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder.3
365986082023CACNA1C-Related Channelopathies.4
370097382023Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant.2
371966772023EMC chaperone-Ca(V) structure reveals an ion channel assembly intermediate.11
374896442023The rs216009 single-nucleotide polymorphism of the CACNA1C gene is associated with phantom tooth pain.0
374939232023Effect of rs1108580 of DBH and rs1006737 of CACNA1C on Cognition and Tardive Dyskinesia in a North Indian Schizophrenia Cohort.0
377064952023A novel risk variant block across introns 36-45 of CACNA1C for schizophrenia: a cohort-wise replication and cerebral region-wide validation study.0
379725912023Structural basis for human Ca(v)1.2 inhibition by multiple drugs and the neurotoxin calciseptine.5
351286182023BDNF Levels According to Variations in the CACNA1C Gene: Sex-Based Disparity.0
357862022023Impact of ZNF804A rs1344706 or CACNA1C rs1006737 polymorphisms on cognition in patients with severe mental disorders: A systematic review and meta-analysis.3
364363282023A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder.3

Citation

Dessen P

CACNA1C (calcium voltage-gated channel subunit alpha1 C)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43691/cacna1c-(calcium-voltage-gated-channel-subunit-alpha1-c)