Voltage-dependent calcium channels 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, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is dire... See more...

Aliases for CACNA1D Gene

Aliases for CACNA1D Gene

  • Calcium Voltage-Gated Channel Subunit Alpha1 D 2 3 5
  • Calcium Channel, Voltage-Dependent, L Type, Alpha 1D Subunit 2 3
  • Voltage-Dependent L-Type Calcium Channel Subunit Alpha-1D 3 4
  • CACNL1A2 3 4
  • CCHL1A2 3 4
  • CACH3 3 4
  • CACN4 3 4
  • Calcium Channel, Neuroendocrine/Brain-Type, Alpha 1 Subunit 3
  • Calcium Channel, L Type, Alpha-1 Polypeptide, Isoform 2 4
  • Voltage-Gated Calcium Channel Alpha Subunit Cav1.3 3
  • Voltage-Gated Calcium Channel Subunit Alpha Cav1.3 4
  • Voltage-Gated Calcium Channel Alpha 1 Subunit 3
  • Calcium Channel, L Type, Alpha-1 Polypeptide 3
  • Cav1.3 3
  • PASNA 3
  • SANDD 3

External Ids for CACNA1D Gene

Previous HGNC Symbols for CACNA1D Gene

  • CCHL1A2
  • CACNL1A2

Previous GeneCards Identifiers for CACNA1D Gene

  • GC03P052645
  • GC03P052780
  • GC03P053383
  • GC03P053486
  • GC03P053504

Summaries for CACNA1D Gene

Entrez Gene Summary for CACNA1D Gene

  • Voltage-dependent calcium channels 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, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

GeneCards Summary for CACNA1D Gene

CACNA1D (Calcium Voltage-Gated Channel Subunit Alpha1 D) is a Protein Coding gene. Diseases associated with CACNA1D include Primary Aldosteronism, Seizures, And Neurologic Abnormalities and Sinoatrial Node Dysfunction And Deafness. Among its related pathways are Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction) and NCAM1 interactions. Gene Ontology (GO) annotations related to this gene include ion channel activity and ankyrin binding. An important paralog of this gene is CACNA1C.

UniProtKB/Swiss-Prot Summary for CACNA1D 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-1D 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, and by benzothiazepines.

Tocris Summary for CACNA1D 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 CACNA1D Gene

Additional gene information for CACNA1D Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CACNA1D Gene

Genomics for CACNA1D Gene

GeneHancer (GH) Regulatory Elements for CACNA1D Gene

Promoters and enhancers for CACNA1D 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
GH03J053492 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.1 +165.5 165500 3.5 CTCF MNT ZNF652 ZIC2 ZBTB8A CTBP1 ZEB2 LARP7 PATZ1 POLR2A CACNA1D ACTR8 PRKCD DCP1A TKT RFT1 piR-38351-301 piR-60051-073
GH03J053327 Enhancer 0.7 Ensembl ENCODE 750.6 -0.3 -291 1.7 ZNF121 TEAD4 CBFA2T2 NCOR1 CEBPB TCF12 TAL1 CBFA2T3 CACNA1D TKT SFMBT1 lnc-TKT-3 DCP1A HE856013
GH03J053354 Enhancer 1 Ensembl ENCODE 10.9 +27.0 27038 6 SMARCE1 ZNF133 ZNF121 TEAD4 ZKSCAN8 ZNF148 CBFA2T2 BACH1 SMARCA4 ZNF639 PBRM1 GLT8D1 NISCH RFT1 SNORD38C ENSG00000212608 CACNA1D GNL3 DCP1A TKT
GH03J053517 Enhancer 0.9 ENCODE dbSUPER 12.1 +190.2 190193 2.8 GATA3 RAD21 ZBTB33 SP1 CEBPB REST JUN ZNF140 ATF3 JUND GLT8D1 RFT1 CACNA1D SNORD38C PBRM1 NT5DC2 TKT ENSG00000251987 piR-38351-301
GH03J053516 Enhancer 0.5 Ensembl 12.1 +187.5 187538 0.2 MAFK ZIC2 ZNF316 MAFG GLIS1 MAFF EMSY CACNA1D piR-38351-301 ENSG00000251987
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CACNA1D on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CACNA1D gene promoter:
  • CREB
  • deltaCREB
  • HOXA9
  • Meis-1
  • Nkx2-5

Genomic Locations for CACNA1D Gene

Genomic Locations for CACNA1D Gene
chr3:53,328,963-53,813,733
(GRCh38/hg38)
Size:
484,771 bases
Orientation:
Plus strand
chr3:53,528,683-53,847,760
(GRCh37/hg19)
Size:
319,078 bases
Orientation:
Plus strand

Genomic View for CACNA1D Gene

Genes around CACNA1D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNA1D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNA1D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNA1D Gene

Proteins for CACNA1D Gene

  • Protein details for CACNA1D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01668-CAC1D_HUMAN
    Recommended name:
    Voltage-dependent L-type calcium channel subunit alpha-1D
    Protein Accession:
    Q01668
    Secondary Accessions:
    • B0FYA3
    • Q13916
    • Q13931
    • Q71UT1
    • Q9UDC3

    Protein attributes for CACNA1D Gene

    Size:
    2161 amino acids
    Molecular mass:
    245141 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. Channel activity is further modulated, depending on the presence of specific delta subunit isoforms. Interacts (via IQ domain) with CABP1 and CABP4 in a calcium independent manner (By similarity). Interacts with RIMBP2 (By similarity).

    Three dimensional structures from OCA and Proteopedia for CACNA1D Gene

    Alternative splice isoforms for CACNA1D Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACNA1D Gene

Post-translational modifications for CACNA1D Gene

  • Glycosylation at Asn155, Asn225, and Asn329
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CACNA1D Gene

Domains & Families for CACNA1D Gene

Gene Families for CACNA1D Gene

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

Suggested Antigen Peptide Sequences for CACNA1D Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50754, highly similar to Voltage-dependent L-type calcium channel subunit alpha-1D (B7Z269_HUMAN)
  • Voltage-gated calcium channel subunit alpha Cav1.3 (CAC1D_HUMAN)
  • Voltage-gated calcium channel alpha 1 subunit (Q71UT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q01668

UniProtKB/Swiss-Prot:

CAC1D_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. CACNA1D 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.
Family:
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1D subfamily.
genes like me logo Genes that share domains with CACNA1D: view

Function for CACNA1D Gene

Molecular function for CACNA1D 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. The isoform alpha-1D 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, and by benzothiazepines.
GENATLAS Biochemistry:
transverse tubule (TT) calcium voltage-gated channel (VDCC),L type,alpha 1D subunit,175kDa,dihydropyridine (DHP) sensitive,isoform 2,neuroendocrine/brain

Phenotypes From GWAS Catalog for CACNA1D Gene

Gene Ontology (GO) - Molecular Function for CACNA1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity IEA,IDA 11160515
GO:0005262 calcium channel activity IMP,IEA 25620733
GO:0005515 protein binding IPI 30058071
GO:0008331 contributes_to high voltage-gated calcium channel activity IDA 1309651
genes like me logo Genes that share ontologies with CACNA1D: view
genes like me logo Genes that share phenotypes with CACNA1D: view

Human Phenotype Ontology for CACNA1D Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CACNA1D Gene

MGI Knock Outs for CACNA1D:

Animal Model Products

CRISPR Products

miRNA for CACNA1D Gene

miRTarBase miRNAs that target CACNA1D

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CACNA1D Gene

Localization for CACNA1D Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNA1D Gene

Membrane; Multi-pass membrane protein.

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 CACNA1D gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CACNA1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS,ISS --
GO:0005891 voltage-gated calcium channel complex IDA,IEA 11160515
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030018 Z disc ISS --
genes like me logo Genes that share ontologies with CACNA1D: view

Pathways & Interactions for CACNA1D Gene

PathCards logo

SuperPathways for CACNA1D Gene

SuperPathway Contained pathways
1 DREAM Repression and Dynorphin Expression
.44
.44
.37
.36
.31
2 TCR Signaling (Qiagen)
.68
.68
.54
.49
.39
3 Aldosterone synthesis and secretion
4 Circadian entrainment
5 Activation of cAMP-Dependent PKA
.77
.77
.56
genes like me logo Genes that share pathways with CACNA1D: view

Gene Ontology (GO) - Biological Process for CACNA1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA,IDA 11160515
GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway ISS --
GO:0007605 sensory perception of sound IMP 21131953
GO:0034220 ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with CACNA1D: view

No data available for SIGNOR curated interactions for CACNA1D Gene

Drugs & Compounds for CACNA1D Gene

(59) Drugs for CACNA1D Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nitrendipine Approved, Investigational Pharma Inhibition, Pore Blocker, Target, inhibitor, blocker Calcium channel blocker, Ca2+ channel blocker (L-type) 6
Felodipine Approved, Investigational Pharma Potentiation, Activator, Target, inhibitor, blocker 22
Isradipine Approved, Investigational Pharma Gating inhibitor, Target, inhibitor, blocker 14
Verapamil Approved Pharma Channel blocker, Pore Blocker, Inhibition, Inhibitor, Target, inhibitor, blocker 145
Nifedipine Approved Pharma Channel blocker, Gating inhibitor, Antagonist, Pore Blocker, Agonist, Activator, Target, inhibitor, blocker 136

(4) Additional Compounds for CACNA1D 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 CACNA1D 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

(29) ApexBio Compounds for CACNA1D 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
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
genes like me logo Genes that share compounds with CACNA1D: view

Drug Products

Transcripts for CACNA1D Gene

mRNA/cDNA for CACNA1D Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CACNA1D Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1:
SP2:
SP3:

ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40a · 40b ^ 41 ^ 42 ^ 43 ^ 44a · 44b ^ 45 ^ 46 ^ 47
SP1:
SP2: -
SP3:

Relevant External Links for CACNA1D Gene

GeneLoc Exon Structure for
CACNA1D
ECgene alternative splicing isoforms for
CACNA1D

Expression for CACNA1D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CACNA1D Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNA1D Gene

This gene is overexpressed in Pituitary (x4.4) and Adrenal Gland (x4.4).

Protein differential expression in normal tissues from HIPED for CACNA1D Gene

This gene is overexpressed in Heart (48.9) and Urine (20.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CACNA1D Gene



Protein tissue co-expression partners for CACNA1D Gene

NURSA nuclear receptor signaling pathways regulating expression of CACNA1D Gene:

CACNA1D

SOURCE GeneReport for Unigene cluster for CACNA1D Gene:

Hs.476358

mRNA Expression by UniProt/SwissProt for CACNA1D Gene:

Q01668-CAC1D_HUMAN
Tissue specificity: Expressed in pancreatic islets and in brain, where it has been seen in cerebral cortex, hippocampus, basal ganglia, habenula and thalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in skeletal muscle.

Evidence on tissue expression from TISSUES for CACNA1D Gene

  • Pancreas(4.3)
  • Adrenal gland(2.6)
  • Nervous system(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNA1D Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • nervous
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
Abdomen:
  • adrenal gland
  • kidney
  • pancreas
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CACNA1D: view

Orthologs for CACNA1D Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA1D Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNA1D 33 32
  • 99.58 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNA1D 33
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNA1D 33 32
  • 93.36 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CACNA1D 33
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CACNA1D 33 32
  • 92.6 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cacna1d 17 33 32
  • 91.07 (n)
rat
(Rattus norvegicus)
Mammalia Cacna1d 32
  • 90.36 (n)
chicken
(Gallus gallus)
Aves CACNA1D 33 32
  • 80.48 (n)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cacna1da 33 32
  • 73 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ca-alpha1D 34 32
  • 62.11 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012434 32
  • 60.01 (n)
worm
(Caenorhabditis elegans)
Secernentea egl-19 34 32
  • 60.49 (n)
unc-2 34
  • 44 (a)
nca-1 34
  • 26 (a)
Species where no ortholog for CACNA1D was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CACNA1D Gene

ENSEMBL:
Gene Tree for CACNA1D (if available)
TreeFam:
Gene Tree for CACNA1D (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CACNA1D: view image

Paralogs for CACNA1D Gene

(11) SIMAP similar genes for CACNA1D Gene using alignment to 5 proteins:

  • CAC1D_HUMAN
  • B7Z269_HUMAN
  • F5H313_HUMAN
  • H7C4S8_HUMAN
  • Q59GD8_HUMAN
genes like me logo Genes that share paralogs with CACNA1D: view

Variants for CACNA1D Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA1D Gene

CAC1D_HUMAN-Q01668
A change from seven to eight ATG trinucleotide repeats, resulting in an additional N-terminal methionine, has been found in a patient with non-insulin-dependent diabetes mellitus (NIDDM).

Sequence variations from dbSNP and Humsavar for CACNA1D Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1045958 benign, not specified, Sinoatrial node dysfunction and deafness 53,735,452(+) C/T coding_sequence_variant, synonymous_variant
rs146747080 benign, likely-benign, uncertain-significance, not specified, Sinoatrial node dysfunction and deafness, not provided 53,723,897(+) G/A coding_sequence_variant, synonymous_variant
rs147169370 benign-likely-benign, not specified 53,743,052(+) C/T coding_sequence_variant, synonymous_variant
rs147336902 benign-likely-benign, not specified 53,666,373(+) G/A/C coding_sequence_variant, synonymous_variant
rs150266932 likely-benign, uncertain-significance, not specified, not provided 53,740,333(+) G/A/C coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for CACNA1D Gene

Variant ID Type Subtype PubMed ID
dgv283n21 CNV loss 19592680
dgv4745n100 CNV gain 25217958
dgv4746n100 CNV gain 25217958
esv2673204 CNV deletion 23128226
esv2725284 CNV deletion 23290073
esv3434928 CNV duplication 20981092
esv3449699 CNV duplication 20981092
esv3575570 CNV gain 25503493
nsv1002452 CNV gain 25217958
nsv1003621 CNV loss 25217958
nsv1013783 CNV gain 25217958
nsv1074593 CNV deletion 25765185
nsv1126649 CNV deletion 24896259
nsv3826 CNV insertion 18451855
nsv477401 CNV novel sequence insertion 20440878
nsv520027 CNV loss 19592680
nsv521276 CNV loss 19592680
nsv954865 CNV deletion 24416366
nsv954866 CNV duplication 24416366
nsv954867 CNV deletion 24416366
nsv979835 CNV duplication 23825009

Variation tolerance for CACNA1D Gene

Residual Variation Intolerance Score: 0.386% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.36; 70.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CACNA1D Gene

Human Gene Mutation Database (HGMD)
CACNA1D
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNA1D

Disorders for CACNA1D Gene

MalaCards: The human disease database

(13) MalaCards diseases for CACNA1D Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
primary aldosteronism, seizures, and neurologic abnormalities
  • pasna
sinoatrial node dysfunction and deafness
  • sandd
aldosterone-producing adenoma
  • aldosterone-secreting adenoma
constrictive pericarditis
  • pericarditis constrictive
headache
  • headache disorder
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CAC1D_HUMAN
  • Sinoatrial node dysfunction and deafness (SANDD) [MIM:614896]: A disease characterized by congenital severe to profound deafness without vestibular dysfunction, associated with episodic syncope due to intermittent pronounced bradycardia. {ECO:0000269 PubMed:21131953}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Primary aldosteronism, seizures, and neurologic abnormalities (PASNA) [MIM:615474]: A disorder characterized by hypertension, hypokalemia, and high aldosterone levels with low plasma renin activity and an elevated aldosterone/renin ratio. Other features include generalized seizures, cerebral palsy, spasticity, intellectual disability, and developmental delay. {ECO:0000269 PubMed:23913001}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Gain of function variations affecting the gene represented in this entry may be associated with susceptibility to autism spetrum disorders. {ECO:0000269 PubMed:22495309, ECO:0000269 PubMed:22542183, ECO:0000269 PubMed:25620733, ECO:0000269 PubMed:28472301}.

Additional Disease Information for CACNA1D

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for CACNA1D Gene

Publications for CACNA1D 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 23 43 56
  2. The structures of the human calcium channel alpha 1 subunit (CACNL1A2) and beta subunit (CACNLB3) genes. (PMID: 7557998) Yamada Y … Seino Y (Genomics 1995) 3 4 23 56
  3. A brain L-type calcium channel alpha 1 subunit gene (CCHL1A2) maps to mouse chromosome 14 and human chromosome 3. (PMID: 1664412) Chin HM … McBride OW (Genomics 1991) 2 3 23 56
  4. New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy. (PMID: 28472301) Pinggera A … Striessnig J (Human molecular genetics 2017) 3 4 56
  5. CACNA1D de novo mutations in autism spectrum disorders activate Cav1.3 L-type calcium channels. (PMID: 25620733) Pinggera A … Striessnig J (Biological psychiatry 2015) 3 4 56

Products for CACNA1D Gene

Sources for CACNA1D Gene