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Aliases for CACNA1C Gene

Aliases for CACNA1C Gene

  • Calcium Channel, Voltage-Dependent, L Type, Alpha 1C Subunit 2 3
  • CACNL1A1 3 4 6
  • CCHL1A1 3 4 6
  • Calcium Channel, L Type, Alpha-1 Polypeptide, Isoform 1, Cardiac Muscle 3 4
  • CACH2 3 4
  • CACN2 3 4
  • TS 3 6
  • Voltage-Gated L-Type Calcium Channel Cav1.2 Alpha 1 Subunit, Splice Variant 10* 3
  • Calcium Channel, Cardic Dihydropyridine-Sensitive, Alpha-1 Subunit 3
  • Voltage-Dependent L-Type Calcium Channel Subunit Alpha-1C 3
  • Voltage-Dependent L-Type Ca2+ Channel Alpha 1 Subunit 3
  • Voltage-Gated Calcium Channel Subunit Alpha Cav1.2 4
  • DHPR, Alpha-1 Subunit 3
  • CaV1.2 3
  • LQT8 3

External Ids for CACNA1C Gene

Previous HGNC Symbols for CACNA1C Gene

  • CCHL1A1
  • CACNL1A1

Previous GeneCards Identifiers for CACNA1C Gene

  • GC12P002096
  • GC12P002032

Summaries for CACNA1C Gene

Entrez Gene Summary for CACNA1C Gene

  • This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]

GeneCards Summary for CACNA1C Gene

CACNA1C (Calcium Channel, Voltage-Dependent, L Type, Alpha 1C Subunit) is a Protein Coding gene. Diseases associated with CACNA1C include timothy syndrome and brugada syndrome 3. Among its related pathways are MAPK signaling pathway and L1CAM interactions. GO annotations related to this gene include calmodulin binding and alpha-actinin binding. An important paralog of this gene is CACNA1D.

UniProtKB/Swiss-Prot for CACNA1C Gene

  • Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1C gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the high-voltage activated (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing the alpha-1C subunit play an important role in excitation-contraction coupling in the heart. The various isoforms display marked differences in the sensitivity to DHP compounds. Binding of calmodulin or CABP1 at the same regulatory sites results in an opposit effects on the channel function.

Tocris Summary for CACNA1C Gene

  • Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium influx in response to depolarisation. They regulate intracellular processes such as contraction, secretion, neurotransmission and gene expression. Voltage-gated calcium channels are formed from four or five distinct subunits; the alpha-subunit is the largest subunit and incorporates the voltage sensor, conduction pore and gating apparatus. Using pharmacological and electrophysiological techniques, at least 6 types of voltage-gated channels have been identified: L, N, P, Q, R and T, which are grouped into three families. Cav1.x are high-voltage-activated dihydropyridine-sensitive (L-type), Cav2.x are high-voltage-activated dihydropyridine-insensitive (N-, P- Q- and R-types) and Cav3.x are low-voltage-activated channels (T-type).

Gene Wiki entry for CACNA1C Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNA1C Gene

Genomics for CACNA1C Gene

Regulatory Elements for CACNA1C Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CACNA1C Gene

Start:
1,970,786 bp from pter
End:
2,697,950 bp from pter
Size:
727,165 bases
Orientation:
Plus strand

Genomic View for CACNA1C Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CACNA1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNA1C Gene

Proteins for CACNA1C Gene

  • Protein details for CACNA1C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13936-CAC1C_HUMAN
    Recommended name:
    Voltage-dependent L-type calcium channel subunit alpha-1C
    Protein Accession:
    Q13936
    Secondary Accessions:
    • B2RUT3
    • E9PDJ0
    • Q13917
    • Q13918
    • Q13919
    • Q13920
    • Q13921
    • Q13922
    • Q13923
    • Q13924
    • Q13925
    • Q13926
    • Q13927
    • Q13928
    • Q13929
    • Q13930
    • Q13932
    • Q13933
    • Q14743
    • Q14744
    • Q15877
    • Q4VMI7
    • Q4VMI8
    • Q4VMI9
    • Q6PKM7
    • Q8N6C0
    • Q99025
    • Q99241
    • Q99875

    Protein attributes for CACNA1C Gene

    Size:
    2221 amino acids
    Molecular mass:
    248977 Da
    Quaternary structure:
    • Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interacts with CACNA2D4. Interacts (via the N-terminus and the C-terminal C and IQ motifs) with CABP1. The binding via the C motif is calcium independent whereas the binding via IQ requires the presence of calcium and is mutually exclusive with calmodulin binding. The binding to the cytoplasmic N-terminal domain is calcium independent but is essential for the channel modulation. Interacts (via C-terminal CDB motif) with CABP5; in a calcium-dependent manner (By similarity). Interacts with CIB1; the interaction increases upon cardiomyocytes hypertrophy (By similarity).
    SequenceCaution:
    • Sequence=AAA02500.2; Type=Frameshift; Positions=1844; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CACNA1C Gene

neXtProt entry for CACNA1C Gene

Proteomics data for CACNA1C Gene at MOPED

Post-translational modifications for CACNA1C Gene

  • Phosphorylation by PKA activates the channel.
  • Glycosylation at Asn153, Asn328, Asn1436, and Asn1487
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CACNA1C Gene

Domains for CACNA1C Gene

Gene Families for CACNA1C Gene

HGNC:
  • CACN :Calcium channel subunits
  • CACN1 :Voltage-gated ion channels / Calcium channels
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

Q13936

UniProtKB/Swiss-Prot:

CAC1C_HUMAN :
  • Q13936
Domain:
  • Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position
  • Binding of intracellular calcium through the EF-hand motif inhibits the opening of the channel.
Family:
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1C subfamily.
genes like me logo Genes that share domains with CACNA1C: view

Function for CACNA1C Gene

Molecular function for CACNA1C Gene

GENATLAS Biochemistry:
transverse tubule (TT) calcium voltage-gated channel (VDCC),L type,alpha 1C subunit,dihydropyridine (DHP) sensitive,cardiac ,brain,isoform 1
UniProtKB/Swiss-Prot Function:
Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1C gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the high-voltage activated (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing the alpha-1C subunit play an important role in excitation-contraction coupling in the heart. The various isoforms display marked differences in the sensitivity to DHP compounds. Binding of calmodulin or CABP1 at the same regulatory sites results in an opposit effects on the channel function.

Gene Ontology (GO) - Molecular Function for CACNA1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005245 voltage-gated calcium channel activity IDA 12130699
GO:0005515 protein binding IPI 11438518
GO:0005516 calmodulin binding IPI 15140941
GO:0008331 contributes_to high voltage-gated calcium channel activity TAS 11576544
genes like me logo Genes that share ontologies with CACNA1C: view
genes like me logo Genes that share phenotypes with CACNA1C: view

Animal Models for CACNA1C Gene

MGI Knock Outs for CACNA1C:

Animal Model Products

miRNA for CACNA1C Gene

miRTarBase miRNAs that target CACNA1C

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CACNA1C

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CACNA1C Gene

Localization for CACNA1C Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNA1C Gene

Membrane; Multi-pass membrane protein. Cell membrane. Note=The interaction between RRAD and CACNB2 regulates its trafficking to the cell membrane. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CACNA1C Gene COMPARTMENTS Subcellular localization image for CACNA1C gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CACNA1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002095 caveolar macromolecular signaling complex IEA --
GO:0005737 cytoplasm IDA 11206130
GO:0005886 plasma membrane TAS --
GO:0005891 voltage-gated calcium channel complex IDA 12130699
GO:0014069 postsynaptic density IDA 14140941
genes like me logo Genes that share ontologies with CACNA1C: view

Pathways for CACNA1C Gene

genes like me logo Genes that share pathways with CACNA1C: view

PCR Array Products

Gene Ontology (GO) - Biological Process for CACNA1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006112 energy reserve metabolic process TAS --
GO:0006811 ion transport --
GO:0006816 calcium ion transport --
GO:0006874 cellular calcium ion homeostasis --
GO:0006939 smooth muscle contraction --
genes like me logo Genes that share ontologies with CACNA1C: view

Compounds for CACNA1C Gene

(5) Tocris Compounds for CACNA1C Gene

Compound Action Cas Number
Isradipine Ca2+ channel blocker (L-type) [75695-93-1]
Mibefradil dihydrochloride Ca2+ channel blocker (T-type) [116666-63-8]
omega-Conotoxin GVIA Ca2+ channel blocker (N-type) [106375-28-4]
Pregabalin Anticonvulsant; selectively binds the alpha2delta subunit of voltage-sensitive calcium channels [148553-50-8]
SNX 482 Potent and selective CaV2.3 blocker (R-type) [203460-30-4]

(30) ApexBio Compounds for CACNA1C Gene

Compound Action Cas Number
2-APB [524-95-8]
Amlodipine Calcium channel blocker [88150-42-9]
Amlodipine Besylate Block of L-type calcium channel [111470-99-6]
Azelnidipine L-type calcium channel blocker;antihypertensive [123524-52-7]
Benidipine HCl Calcium channel blocker [91599-74-5]
Cilnidipine Blocker of Dual L- and N-type calcium channel [132203-70-4]
Cinepazide maleate [26328-04-1]
Clevidipine Butyrate [167221-71-8]
Dehydroepiandrosterone (DHEA) Endogenous steroid hormone [53-43-0]
Diltiazem HCl [33286-22-5]
Felodipine [72509-76-3]
Flunarizine 2HCl Calcium entry blocker [30484-77-6]
Gabapentin HCl GABA analog [60142-95-2]
Isradipine (Dynacirc) Calcium channel blocker [75695-93-1]
Lacidipine L-type calcium channel blocker [103890-78-4]
Lomerizine HCl [101477-54-7]
Manidipine Calcium channel blocker [89226-50-6]
Manidipine 2HCl [89226-75-5]
Nicardipine HCl [54527-84-3]
Nilvadipine [75530-68-6]
Nisoldipine [63675-72-9]
Nitrendipine Calcium channel blocker [39562-70-4]
Osthole Antitumor reagent [484-12-8]
Ranolazine 2HCl Partial fatty acid oxidation inhibitor [95635-56-6]
Strontium Ranelate [135459-87-9]
Tetracaine HCl Anaesthetic and allosteric inhibitor [136-47-0]
Tetrandrine [518-34-3]
Thioridazine HCl Calcium channel protein inhibitor [130-61-0]
Verapamil HCl [152-11-4]
Zonisamide Antiepileptic with anticonvulsant and mechanistic effect [68291-97-4]

(2) HMDB Compounds for CACNA1C Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Verapamil
  • Akilen
52-53-9

(18) Drugbank Compounds for CACNA1C Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Amlodipine
  • Amlodipine Benzenesulfonate
88150-42-9 target inhibitor
Calcium
target ligand
Cinnarizine
298-57-7 target inhibitor
Clevidipine
166432-28-6 target
Dronedarone
141626-36-0 target

(11) IUPHAR Ligand for CACNA1C Gene

Ligand Type Action Affinity Pubmed IDs
[3H](+)-isradipine Gating inhibitor None 11
nisoldipine Gating inhibitor None 7.1
mibefradil Pore Blocker Antagonist 6.8
nifedipine Activator None
Pb2+ Activator None
diltiazem Channel blocker None
SZ(+)-(S)-202-791 Activator None
calciseptine Channel blocker None
FPL64176 Activator None
(-)-(S)-BayK8644 Activator None
verapamil Inhibitor Inhibition

(2) Novoseek inferred chemical compound relationships for CACNA1C Gene

Compound -log(P) Hits PubMed IDs
dihydropyridine 69.8 3
calcium 63.1 36

(3) PharmGKB related drug/compound annotations for CACNA1C Gene

Drug/compound Annotation
atenolol CA
calcium channel blockers CA
verapamil CA
genes like me logo Genes that share compounds with CACNA1C: view

Transcripts for CACNA1C Gene

Unigene Clusters for CACNA1C Gene

Calcium channel, voltage-dependent, L type, alpha 1C subunit:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CACNA1C

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CACNA1C Gene

No ASD Table

Relevant External Links for CACNA1C Gene

GeneLoc Exon Structure for
CACNA1C
ECgene alternative splicing isoforms for
CACNA1C

Expression for CACNA1C Gene

mRNA expression in normal human tissues for CACNA1C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNA1C Gene

This gene is overexpressed in Colon - Sigmoid (5.3) and Heart - Left Ventricle (4.7).

Protein differential expression in normal tissues for CACNA1C Gene

This gene is overexpressed in Heart (30.6), Frontal cortex (30.0), and Urinary Bladder (6.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CACNA1C Gene

SOURCE GeneReport for Unigene cluster for CACNA1C Gene Hs.118262

mRNA Expression by UniProt/SwissProt for CACNA1C Gene

Q13936-CAC1C_HUMAN
Tissue specificity: Expressed in brain, heart, jejunum, ovary, pancreatic beta-cells and vascular smooth muscle. Overall expression is reduced in atherosclerotic vascular smooth muscle.
genes like me logo Genes that share expressions with CACNA1C: view

Expression partners for CACNA1C Gene

In Situ Assay Products

Orthologs for CACNA1C Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA1C Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia CACNA1C 35
  • 91.69 (n)
  • 95.95 (a)
CACNA1C 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cacna1c 35
  • 89.61 (n)
  • 95.1 (a)
Cacna1c 16
Cacna1c 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CACNA1C 35
  • 99.53 (n)
  • 99.61 (a)
CACNA1C 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacna1c 35
  • 89.59 (n)
  • 95 (a)
cow
(Bos Taurus)
Mammalia CACNA1C 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CACNA1C 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNA1C 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves CACNA1C 35
  • 83.66 (n)
  • 91.77 (a)
CACNA1C 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNA1C 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacna1c 35
  • 78.44 (n)
  • 86.49 (a)
zebrafish
(Danio rerio)
Actinopterygii cacna1c 35
  • 74.03 (n)
  • 80.65 (a)
cacna1c 36
  • 79 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ca-alpha1D 37
  • 61 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-19 37
  • 65 (a)
nca-1 37
  • 26 (a)
unc-2 37
  • 45 (a)
Species with no ortholog for CACNA1C:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CACNA1C Gene

ENSEMBL:
Gene Tree for CACNA1C (if available)
TreeFam:
Gene Tree for CACNA1C (if available)

Paralogs for CACNA1C Gene

genes like me logo Genes that share paralogs with CACNA1C: view

Variants for CACNA1C Gene

Sequence variations from dbSNP and Humsavar for CACNA1C Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs25565 -- 2,530,214(+) ATTGT(-/TGA)TGACC intron-variant
rs82602 -- 2,650,837(+) GAAGC(C/G)TCACT intron-variant
rs82607 -- 2,628,096(+) CGGAC(C/T)TCGTC intron-variant
rs98545 -- 2,628,129(+) CCTGA(C/T)TGAAA intron-variant
rs104629 -- 2,646,189(-) CTTTT(C/T)TCTTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CACNA1C Gene

Variant ID Type Subtype PubMed ID
nsv898598 CNV Gain 21882294
nsv521838 CNV Gain 19592680
dgv1342n71 CNV Gain 21882294
nsv826182 CNV Gain 20364138
nsv826183 CNV Gain 20364138
esv23290 CNV Loss 19812545
nsv826184 CNV Gain 20364138
nsv826185 CNV Gain 20364138
nsv898603 CNV Loss 21882294
esv998408 CNV Deletion 20482838
esv27797 CNV Loss 19812545
esv1439292 CNV Deletion 17803354
esv1009527 CNV Deletion 20482838
nsv53850 CNV Loss 16902084
esv1150716 CNV Deletion 17803354
esv1158447 CNV Insertion 17803354
esv2745406 CNV Deletion 23290073
dgv25n6 CNV Loss 16902084
esv2745407 CNV Deletion 23290073
dgv176n27 CNV Loss 19166990
nsv521953 CNV Loss 19592680
nsv516496 CNV Loss 19592680
dgv1343n71 CNV Loss 21882294
nsv8889 CNV Gain+Loss 18304495
dgv258n67 CNV Loss 20364138
nsv821362 CNV Deletion 20802225
nsv508663 CNV Loss 20534489
esv2658961 CNV Deletion 23128226
nsv819825 CNV Gain 19587683
dgv259n67 CNV Loss 20364138
esv29907 CNV Gain 19812545
nsv818879 CNV Loss 17921354
dgv177n27 CNV Loss 19166990
esv2422127 CNV Deletion 20811451
nsv468973 CNV Loss 19166990
nsv442629 CNV CNV 18776908
nsv514658 CNV Loss 21397061
nsv438187 CNV Loss 16468122
esv2745409 CNV Deletion 23290073
nsv513346 CNV Insertion 21212237
esv2665790 CNV Deletion 23128226
nsv575 CNV Insertion 18451855
nsv509449 CNV Insertion 20534489
nsv76 CNV Insertion 15895083
esv1000811 CNV Insertion 20482838
nsv53170 CNV Insertion 16902084
esv1308691 CNV Insertion 17803354
esv2670400 CNV Deletion 23128226
esv2476778 CNV Insertion 19546169
esv1572229 CNV Insertion 17803354
nsv524111 CNV Loss 19592680
nsv832307 CNV Gain 17160897
esv2676258 CNV Deletion 23128226
esv2745410 CNV Deletion 23290073
nsv507627 CNV Insertion 20534489
esv24119 CNV Loss 19812545
esv2745411 CNV Deletion 23290073
esv2674294 CNV Deletion 23128226
nsv898606 CNV Gain 21882294
esv2660122 CNV Deletion 23128226
nsv526182 CNV Gain 19592680
nsv509450 CNV Insertion 20534489
esv8409 CNV Gain 19470904
esv2745412 CNV Deletion 23290073
nsv52683 CNV Insertion 16902084
nsv576 CNV Insertion 18451855
esv1578304 CNV Deletion 17803354
esv2745413 CNV Deletion 23290073
esv21449 CNV Loss 19812545
esv2745414 CNV Deletion 23290073
esv2745415 CNV Deletion 23290073
esv2485224 CNV Insertion 19546169
nsv578 CNV Insertion 18451855
nsv832308 CNV Loss 17160897
nsv53150 CNV Insertion 16902084
dgv1344n71 CNV Gain 21882294
esv2745416 CNV Deletion 23290073
esv9177 CNV Loss 19470904
nsv898609 CNV Gain 21882294
esv2666981 CNV Deletion 23128226

Relevant External Links for CACNA1C Gene

HapMap Linkage Disequilibrium report
CACNA1C
Human Gene Mutation Database (HGMD)
CACNA1C
Locus Specific Mutation Databases (LSDB)
CACNA1C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA1C Gene

Disorders for CACNA1C Gene

(2) OMIM Diseases for CACNA1C Gene (114205)

UniProtKB/Swiss-Prot

CAC1C_HUMAN
  • Timothy syndrome (TS) [MIM:601005]: Disorder characterized by multiorgan dysfunction including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities and autism. {ECO:0000269 PubMed:15454078, ECO:0000269 PubMed:15863612, ECO:0000269 PubMed:25260352}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Brugada syndrome 3 (BRGDA3) [MIM:611875]: A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO:0000269 PubMed:17224476}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) Novoseek inferred disease relationships for CACNA1C Gene

Disease -log(P) Hits PubMed IDs
hypokalemic periodic paralysis 64.6 1

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Publications for CACNA1C Gene

  1. Assignment of the human gene for the alpha 1 subunit of the cardiac DHP-sensitive Ca2+ channel (CCHL1A1) to chromosome 12p12-pter. (PMID: 1653763) Powers P.A. … Hogan K. (Genomics 1991) 3 4 23
  2. A novel long N-terminal isoform of human L-type Ca2+ channel is up- regulated by protein kinase C. (PMID: 11741969) Blumenstein Y. … Dascal N. (J. Biol. Chem. 2002) 3 4 23
  3. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. (PMID: 15863612) Splawski I. … Keating M.T. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 4 23
  4. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. (PMID: 17224476) Antzelevitch C. … Wolpert C. (Circulation 2007) 3 4 23
  5. Genetic polymorphisms of L-type calcium channel alpha1C and alpha1D subunit genes are associated with sensitivity to the antihypertensive effects of L-type dihydropyridine calcium-channel blockers. (PMID: 19225208) Kamide K. … Kawano Y. (Circ. J. 2009) 3 23 48

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