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Aliases for CACNA1C Gene

Aliases for CACNA1C Gene

  • Calcium Voltage-Gated Channel Subunit Alpha1 C 2 3 5
  • Calcium Channel, L Type, Alpha-1 Polypeptide, Isoform 1, Cardiac Muscle 3 4
  • Calcium Channel, Voltage-Dependent, L Type, Alpha 1C Subunit 2 3
  • CACNL1A1 3 4
  • CCHL1A1 3 4
  • CACH2 3 4
  • CACN2 3 4
  • 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
  • TS 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 Voltage-Gated Channel Subunit Alpha1 C) is a Protein Coding gene. Diseases associated with CACNA1C include Timothy Syndrome and Brugada Syndrome 3. Among its related pathways are Fc-GammaR Pathway and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include enzyme binding and ion channel activity. 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 (PubMed:29078335). 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 opposite effects on the channel function. STAC3 strongly decreases the rate of channel inactivation (PubMed:29078335).

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 depolarization. They regulate intracellular processes such as contraction, secretion, neurotransmission and gene expression.

Gene Wiki entry for CACNA1C Gene

Additional gene information for CACNA1C Gene

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

Genomics for CACNA1C Gene

GeneHancer (GH) Regulatory Elements for CACNA1C Gene

Promoters and enhancers for CACNA1C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J002052 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.2 +83.1 83114 3 ZSCAN4 SIN3A ZNF335 GLIS2 ZNF213 ZNF366 SCRT2 EGR2 SP3 ZNF398 CACNA1C TULP3 ITFG2 CACNA1C-IT2 GC12M002062
GH12J001972 Enhancer 1 Ensembl ENCODE dbSUPER 650.7 +1.9 1928 1.4 YY2 INSM2 ZNF398 NR2F2 ZNF335 JUND PRDM6 ZNF366 ZSCAN5C ZNF600 CACNA1C GC12M001934 GC12M001935 GC12M001936 GC12P001971 TULP3 ITFG2 ENSG00000203593 DCP1B RAD52
GH12J001970 Promoter/Enhancer 0.8 EPDnew dbSUPER 650.7 0.0 -25 0.1 NR2F2 CACNA1C GC12M001934 GC12M001935 GC12P001971 GC12M001936 GC12M001963 DCP1B LINC00940
GH12J002582 Enhancer 0.9 Ensembl ENCODE 11.4 +612.5 612459 0.9 CTCF ESRRA RB1 SUZ12 KLF17 KLF14 ZIC2 RAD21 CTBP1 SMC3 CACNA1C-AS3 CACNA1C CACNA1C-AS4 PIR40542
GH12J002034 Enhancer 1.3 FANTOM5 Ensembl ENCODE 5.3 +64.5 64500 1 ATF1 ARNT ARID4B SIN3A ZNF48 YY1 ZNF207 ZNF143 RUNX3 KLF13 CACNA1C-AS4 CACNA1C LRTM2 CACNA1C-IT2 CACNA1C-IT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CACNA1C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CACNA1C gene promoter:
  • FOXO1a
  • FOXO1
  • STAT5B
  • Pax-4a
  • Pax-2a
  • Pax-2
  • aMEF-2
  • MEF-2A
  • XBP-1
  • TGIF

Genomic Locations for CACNA1C Gene

Genomic Locations for CACNA1C Gene
chr12:1,970,786-2,697,950
(GRCh38/hg38)
Size:
727,165 bases
Orientation:
Plus strand
chr12:2,079,952-2,807,115
(GRCh37/hg19)
Size:
727,164 bases
Orientation:
Plus strand

Genomic View for CACNA1C Gene

Genes around CACNA1C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNA1C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:29078335). 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). Interacts with STAC2 and STAC3 (PubMed:29078335).
    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

Post-translational modifications for CACNA1C Gene

  • Phosphorylation by PKA activates the channel.
  • Glycosylation at posLast=14871487, Asn1436, Asn328, and posLast=153153
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CACNA1C Gene

Domains & Families for CACNA1C Gene

Gene Families for CACNA1C Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Graphical View of Domain Structure for InterPro Entry

Q13936

UniProtKB/Swiss-Prot:

CAC1C_HUMAN :
  • 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.
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1C subfamily.
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

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 (PubMed:29078335). 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 opposite effects on the channel function. STAC3 strongly decreases the rate of channel inactivation (PubMed:29078335).
GENATLAS Biochemistry:
transverse tubule (TT) calcium voltage-gated channel (VDCC),L type,alpha 1C subunit,dihydropyridine (DHP) sensitive,cardiac ,brain,isoform 1

Phenotypes From GWAS Catalog for CACNA1C Gene

Gene Ontology (GO) - Molecular Function for CACNA1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity IEA,TAS --
GO:0005261 cation channel activity IBA --
GO:0005262 calcium channel activity IEA --
genes like me logo Genes that share ontologies with CACNA1C: view
genes like me logo Genes that share phenotypes with CACNA1C: view

Human Phenotype Ontology for CACNA1C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CACNA1C Gene

MGI Knock Outs for CACNA1C:

Animal Model Products

  • Taconic Biosciences Mouse Models for CACNA1C

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNA1C

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 UniProtKB:P15381}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CACNA1C gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CACNA1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 11206130
GO:0005886 plasma membrane TAS --
GO:0005891 voltage-gated calcium channel complex IDA,IEA 12130699
GO:0014069 postsynaptic density IDA 14140941
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CACNA1C: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CACNA1C Gene

Pathways & Interactions for CACNA1C Gene

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

SIGNOR curated interactions for CACNA1C Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CACNA1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002520 immune system development IMP 15454078
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA,IBA --
GO:0007204 positive regulation of cytosolic calcium ion concentration IDA 12130699
GO:0007507 heart development IMP 15454078
genes like me logo Genes that share ontologies with CACNA1C: view

Drugs & Compounds for CACNA1C Gene

(117) Drugs for CACNA1C Gene - From: DrugBank, PharmGKB, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nisoldipine Approved Pharma Gating inhibitor, blocker, Target, inhibitor 5
Verapamil Approved Pharma Channel blocker, Pore Blocker, Inhibition, Inhibitor, blocker, Target, inhibitor 135
Felodipine Approved, Investigational Pharma Potentiation, Activator, blocker, Target, inhibitor 22
Nimodipine Approved, Investigational Pharma Potentiation, Activator, Target, inhibitor Ca2+ channel blocker (L-type) 27
Nitrendipine Approved, Investigational Pharma Inhibition, Pore Blocker, Target, inhibitor Calcium channel blocker, Ca2+ channel blocker (L-type) 5

(4) Additional Compounds for CACNA1C Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
O-Desmethylverapamil (D-702)
(+-)-Bay K 8644
71145-03-4
Verapamil hydrochloride
152-11-4

(5) Tocris Compounds for CACNA1C Gene

Compound Action Cas Number
(+-)-Bay K 8644 Ca2+ channel activator (L-type) 71145-03-4
Nimodipine Ca2+ channel blocker (L-type) 66085-59-4
Nitrendipine Ca2+ channel blocker (L-type) 39562-70-4
Ruthenium Red Non-selective Ca2+ channel blocker (N- and P-type) 11103-72-3
Verapamil hydrochloride Ca2+ channel blocker (L-type) 152-11-4
genes like me logo Genes that share compounds with CACNA1C: view

Transcripts for CACNA1C Gene

mRNA/cDNA for CACNA1C Gene

Unigene Clusters for CACNA1C Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNA1C

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x5.3) and Heart - Left Ventricle (x4.7).

Protein differential expression in normal tissues from HIPED for CACNA1C Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CACNA1C Gene



Protein tissue co-expression partners for CACNA1C Gene

NURSA nuclear receptor signaling pathways regulating expression of CACNA1C Gene:

CACNA1C

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.

Evidence on tissue expression from TISSUES for CACNA1C Gene

  • Nervous system(4.7)
  • Heart(4.6)
  • Muscle(4.6)
  • Intestine(4.2)
  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNA1C Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • red blood cell
genes like me logo Genes that share expression patterns with CACNA1C: view

Orthologs for CACNA1C Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA1C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNA1C 34 33
  • 99.53 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CACNA1C 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNA1C 34 33
  • 91.69 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cacna1c 16 34 33
  • 89.61 (n)
rat
(Rattus norvegicus)
Mammalia Cacna1c 33
  • 89.59 (n)
cow
(Bos Taurus)
Mammalia CACNA1C 34
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNA1C 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves CACNA1C 34 33
  • 83.66 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNA1C 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacna1c 33
  • 78.44 (n)
zebrafish
(Danio rerio)
Actinopterygii cacna1c 34 33 33
  • 74.03 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ca-alpha1D 35
  • 61 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-19 35
  • 65 (a)
unc-2 35
  • 45 (a)
nca-1 35
  • 26 (a)
Species where no ortholog for CACNA1C was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CACNA1C: view image

Paralogs for CACNA1C Gene

Paralogs for CACNA1C Gene

(13) SIMAP similar genes for CACNA1C Gene using alignment to 11 proteins:

  • CAC1C_HUMAN
  • E9PDI6_HUMAN
  • F5GY28_HUMAN
  • F5H0X0_HUMAN
  • F5H522_HUMAN
  • F5H638_HUMAN
  • Q4G0H8_HUMAN
  • Q5V9X8_HUMAN
  • Q5V9X9_HUMAN
  • Q86XX0_HUMAN
  • Q86XX1_HUMAN
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 Variation AA Info Type
rs1006501249 uncertain-significance, Brugada syndrome, Timothy syndrome 2,692,176(+) A/G 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1008863902 uncertain-significance, Long QT syndrome 2,679,510(+) C/G coding_sequence_variant, missense_variant
rs1010302824 uncertain-significance, Brugada syndrome, Timothy syndrome 2,692,672(+) G/A/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1012584625 uncertain-significance, Brugada syndrome, Timothy syndrome 2,668,929(+) G/A intron_variant
rs1018195538 uncertain-significance, Timothy syndrome, Brugada syndrome 2,692,768(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv1339n100 CNV loss 25217958
dgv1340n100 CNV loss 25217958
dgv1341n100 CNV loss 25217958
dgv1342n100 CNV loss 25217958
dgv1343n100 CNV loss 25217958
dgv1344n100 CNV gain 25217958
dgv176n27 CNV loss 19166990
dgv177n27 CNV loss 19166990
dgv2274n54 CNV loss 21841781
dgv2275n54 CNV loss 21841781
dgv2276n54 CNV loss 21841781
dgv2277n54 CNV loss 21841781
dgv2278n54 CNV loss 21841781
dgv2279n54 CNV loss 21841781
dgv2280n54 CNV gain+loss 21841781
dgv2281n54 CNV loss 21841781
dgv2282n54 CNV loss 21841781
dgv2283n54 CNV loss 21841781
dgv2284n54 CNV loss 21841781
dgv2285n54 CNV loss 21841781
dgv2286n54 CNV loss 21841781
dgv2287n54 CNV loss 21841781
dgv244e214 CNV gain 21293372
dgv258n67 CNV loss 20364138
dgv259n67 CNV loss 20364138
dgv25n6 CNV deletion 16902084
dgv437e212 CNV loss 25503493
dgv438e212 CNV loss 25503493
dgv439e212 CNV loss 25503493
dgv740e59 CNV duplication 20981092
esv1000811 CNV insertion 20482838
esv1009527 CNV deletion 20482838
esv1150716 CNV deletion 17803354
esv1158447 CNV insertion 17803354
esv1308691 CNV insertion 17803354
esv1439292 CNV deletion 17803354
esv1572229 CNV insertion 17803354
esv1578304 CNV deletion 17803354
esv21449 CNV loss 19812545
esv23290 CNV loss 19812545
esv24119 CNV loss 19812545
esv2422127 CNV deletion 20811451
esv2476778 CNV insertion 19546169
esv2485224 CNV insertion 19546169
esv2658961 CNV deletion 23128226
esv2660122 CNV deletion 23128226
esv2665790 CNV deletion 23128226
esv2666981 CNV deletion 23128226
esv2670400 CNV deletion 23128226
esv2674294 CNV deletion 23128226
esv2676258 CNV deletion 23128226
esv2745406 CNV deletion 23290073
esv2745407 CNV deletion 23290073
esv2745409 CNV deletion 23290073
esv2745410 CNV deletion 23290073
esv2745411 CNV deletion 23290073
esv2745412 CNV deletion 23290073
esv2745413 CNV deletion 23290073
esv2745414 CNV deletion 23290073
esv2745415 CNV deletion 23290073
esv2745416 CNV deletion 23290073
esv2760788 CNV loss 21179565
esv27797 CNV loss 19812545
esv29907 CNV gain 19812545
esv3367314 CNV duplication 20981092
esv3369534 CNV duplication 20981092
esv3439947 CNV duplication 20981092
esv3548632 CNV deletion 23714750
esv3548634 CNV deletion 23714750
esv3548636 CNV deletion 23714750
esv3548637 CNV deletion 23714750
esv3548640 CNV deletion 23714750
esv3580037 CNV loss 25503493
esv3580038 CNV loss 25503493
esv3580054 CNV loss 25503493
esv3580065 CNV loss 25503493
esv3580066 CNV loss 25503493
esv3580067 CNV loss 25503493
esv3580068 CNV loss 25503493
esv3580069 CNV loss 25503493
esv3580294 CNV gain 25503493
esv3628305 CNV loss 21293372
esv3628306 CNV loss 21293372
esv3628307 CNV loss 21293372
esv3628308 CNV loss 21293372
esv3628309 CNV loss 21293372
esv3628311 CNV loss 21293372
esv3628313 CNV loss 21293372
esv3892125 CNV loss 25118596
esv8409 CNV gain 19470904
esv9177 CNV loss 19470904
esv998408 CNV deletion 20482838
nsv1040370 CNV gain 25217958
nsv1047874 CNV gain 25217958
nsv1051298 CNV loss 25217958
nsv1052890 CNV loss 25217958
nsv1069631 CNV deletion 25765185
nsv1069632 CNV deletion 25765185
nsv1070081 CNV deletion 25765185
nsv1113453 CNV deletion 24896259
nsv1120254 CNV tandem duplication 24896259
nsv1124679 CNV deletion 24896259
nsv1134190 CNV deletion 24896259
nsv1135792 CNV deletion 24896259
nsv1139589 CNV deletion 24896259
nsv1143700 CNV deletion 24896259
nsv1144603 CNV deletion 24896259
nsv1149365 CNV deletion 26484159
nsv1152915 CNV insertion 26484159
nsv438187 CNV loss 16468122
nsv442629 CNV loss 18776908
nsv468973 CNV loss 19166990
nsv472862 CNV novel sequence insertion 20440878
nsv475018 CNV novel sequence insertion 20440878
nsv476046 CNV novel sequence insertion 20440878
nsv507627 OTHER sequence alteration 20534489
nsv508663 CNV deletion 20534489
nsv509449 CNV insertion 20534489
nsv509450 CNV insertion 20534489
nsv513346 CNV insertion 21212237
nsv514658 CNV loss 21397061
nsv516496 CNV loss 19592680
nsv521838 CNV gain 19592680
nsv521953 CNV loss 19592680
nsv524111 CNV loss 19592680
nsv526182 CNV gain 19592680
nsv52683 CNV insertion 16902084
nsv53150 CNV insertion 16902084
nsv53170 CNV insertion 16902084
nsv53850 CNV deletion 16902084
nsv557003 CNV gain+loss 21841781
nsv557015 CNV gain+loss 21841781
nsv557018 CNV loss 21841781
nsv557030 CNV gain 21841781
nsv557032 CNV gain+loss 21841781
nsv557033 CNV loss 21841781
nsv557045 CNV loss 21841781
nsv557052 CNV loss 21841781
nsv557053 CNV loss 21841781
nsv557070 CNV loss 21841781
nsv557071 CNV loss 21841781
nsv557072 CNV loss 21841781
nsv575 CNV insertion 18451855
nsv576 CNV insertion 18451855
nsv578 CNV insertion 18451855
nsv76 CNV insertion 15895083
nsv818879 CNV loss 17921354
nsv819825 CNV gain 19587683
nsv821362 CNV deletion 20802225
nsv826182 CNV gain 20364138
nsv826183 CNV gain 20364138
nsv826184 CNV gain 20364138
nsv826185 CNV gain 20364138
nsv832307 CNV gain 17160897
nsv832308 CNV loss 17160897
nsv8889 CNV gain+loss 18304495
nsv973981 CNV deletion 23825009
nsv983264 CNV duplication 23825009

Variation tolerance for CACNA1C Gene

Residual Variation Intolerance Score: 3.51% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.45; 54.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CACNA1C Gene

Human Gene Mutation Database (HGMD)
CACNA1C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNA1C

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

Disorders for CACNA1C Gene

MalaCards: The human disease database

(27) MalaCards diseases for CACNA1C Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
timothy syndrome
  • ts
brugada syndrome 3
  • brgda3
brugada syndrome
  • right bundle branch block, st segment elevation, and sudden death syndrome
ventricular fibrillation, paroxysmal familial, 1
  • vf1
long qt syndrome
  • romano-ward syndrome
- elite association - COSMIC cancer census association via MalaCards

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:24728418, ECO:0000269 PubMed:25260352, ECO:0000269 PubMed:25633834, ECO:0000269 PubMed:26253506}. 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.

Additional Disease Information for CACNA1C

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CACNA1C: view

No data available for Genatlas for CACNA1C Gene

Publications for CACNA1C Gene

  1. 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 (Circulation journal : official journal of the Japanese Circulation Society 2009) 3 22 44 58
  2. 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 22 58
  3. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. (PMID: 15863612) Splawski I … Keating MT (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 4 22 58
  4. 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 (The Journal of biological chemistry 2002) 3 4 22 58
  5. Ca2+ channel sensitivity towards the blocker isradipine is affected by alternative splicing of the human alpha1C subunit gene. (PMID: 9607315) Zühlke RD … Reuter H (FEBS letters 1998) 3 4 25 58

Products for CACNA1C Gene

Sources for CACNA1C Gene