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Aliases for CACNA1A Gene

Aliases for CACNA1A Gene

  • Calcium Voltage-Gated Channel Subunit Alpha1 A 2 3 5
  • Calcium Channel, Voltage-Dependent, P/Q Type, Alpha 1A Subunit 2 3
  • Voltage-Gated Calcium Channel Subunit Alpha Cav2.1 3 4
  • Brain Calcium Channel I 3 4
  • CACNL1A4 3 4
  • BI 3 4
  • Fetal Brain Ca2+ Voltage-Gated Channel Alpha1A Pore-Forming Subunit 3
  • Voltage-Dependent P/Q-Type Calcium Channel Subunit Alpha-1A 3
  • Calcium Channel, L Type, Alpha-1 Polypeptide Isoform 4 4
  • Calcium Channel, L Type, Alpha-1 Polypeptide 3
  • Brain Calcium Channel 1 3
  • CAV2.1 3
  • EIEE42 3
  • CACH4 4
  • CACN3 4
  • APCA 3
  • HPCA 3
  • MHP1 3
  • SCA6 3
  • EA2 3
  • FHM 3
  • MHP 3

External Ids for CACNA1A Gene

Previous HGNC Symbols for CACNA1A Gene

  • CACNL1A4
  • SCA6
  • MHP1
  • MHP

Previous GeneCards Identifiers for CACNA1A Gene

  • GC19M013650
  • GC19M013162
  • GC19M013179
  • GC19M013317
  • GC19M012889

Summaries for CACNA1A Gene

Entrez Gene Summary for CACNA1A 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, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]

GeneCards Summary for CACNA1A Gene

CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A) is a Protein Coding gene. Diseases associated with CACNA1A include Spinocerebellar Ataxia 6 and Episodic Ataxia, Type 2. Among its related pathways are Fc-GammaR Pathway and Synaptic vesicle cycle. Gene Ontology (GO) annotations related to this gene include ion channel activity and voltage-gated calcium channel activity. An important paralog of this gene is CACNA1B.

UniProtKB/Swiss-Prot for CACNA1A 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-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the high-voltage activated (HVA) group and are blocked by the funnel toxin (Ftx) and by the omega-agatoxin-IVA (omega-Aga-IVA). They are however insensitive to dihydropyridines (DHP), and omega-conotoxin-GVIA (omega-CTx-GVIA).

Tocris Summary for CACNA1A 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 CACNA1A Gene

Additional gene information for CACNA1A Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNA1A Gene

Genomics for CACNA1A Gene

GeneHancer (GH) Regulatory Elements for CACNA1A Gene

Promoters and enhancers for CACNA1A 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
GH19J013505 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 656.6 +126.3 126286 2 MXI1 USF1 SUZ12 REST ZNF335 POLR2A ZNF143 EZH2 CACNA1A GC19P013560 PIR32691
GH19J013632 Enhancer 1.3 Ensembl ENCODE dbSUPER 660.7 -0.2 -221 1.7 PKNOX1 ZFP64 ZNF133 FEZF1 ZNF48 ETS1 GLIS2 ZNF213 KLF7 YY2 CACNA1A CCDC130 MRI1 WDR83OS TRMT1 TRIR RPS6P25 RFX1 DCAF15 DDX39A
GH19J014205 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10 -573.7 -573708 2.7 HDGF PKNOX1 ARNT NEUROD1 SIN3A FEZF1 ZNF2 ZBTB7B YY1 POLR2B ADGRL1 ZNF333 CACNA1A RN7SL231P
GH19J013621 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 10.8 +11.5 11467 1 CTCF USF1 JUN ZIC2 RAD21 FOSL1 POLR2A SMC3 FOSL2 FOS CACNA1A GC19M013614 GC19P013560
GH19J013864 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 6.2 -232.4 -232428 2.8 HDGF PKNOX1 ZSCAN4 KLF17 ZNF2 THRB ZNF48 YY1 ZNF335 GLIS2 SNRPGP15 ADGRL1 CACNA1A C19orf57 ZSWIM4 RFX1 CC2D1A NANOS3 MIR181C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CACNA1A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CACNA1A gene promoter:
  • TBP
  • S8
  • c-Myb

Genomic Locations for CACNA1A Gene

Genomic Locations for CACNA1A Gene
chr19:13,206,442-13,633,025
(GRCh38/hg38)
Size:
426,584 bases
Orientation:
Minus strand
chr19:13,317,256-13,734,804
(GRCh37/hg19)
Size:
417,549 bases
Orientation:
Minus strand

Genomic View for CACNA1A Gene

Genes around CACNA1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNA1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNA1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNA1A Gene

Proteins for CACNA1A Gene

  • Protein details for CACNA1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00555-CAC1A_HUMAN
    Recommended name:
    Voltage-dependent P/Q-type calcium channel subunit alpha-1A
    Protein Accession:
    O00555
    Secondary Accessions:
    • J3KP41
    • P78510
    • P78511
    • Q16290
    • Q92690
    • Q99790
    • Q99791
    • Q99792
    • Q99793
    • Q9NS88
    • Q9UDC4

    Protein attributes for CACNA1A Gene

    Size:
    2505 amino acids
    Molecular mass:
    282365 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. Interact (via C-terminal CDB motif) with CABP1 in the pre- and postsynaptic membranes.
    SequenceCaution:
    • Sequence=AAB49678.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CACNA1A Gene

    Alternative splice isoforms for CACNA1A Gene

neXtProt entry for CACNA1A Gene

Post-translational modifications for CACNA1A Gene

  • Glycosylation at posLast=283283
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CACNA1A Gene

Domains & Families for CACNA1A Gene

Gene Families for CACNA1A Gene

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

Graphical View of Domain Structure for InterPro Entry

O00555

UniProtKB/Swiss-Prot:

CAC1A_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. CACNA1A 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. CACNA1A subfamily.
genes like me logo Genes that share domains with CACNA1A: view

Function for CACNA1A Gene

Molecular function for CACNA1A 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-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the high-voltage activated (HVA) group and are blocked by the funnel toxin (Ftx) and by the omega-agatoxin-IVA (omega-Aga-IVA). They are however insensitive to dihydropyridines (DHP), and omega-conotoxin-GVIA (omega-CTx-GVIA).
GENATLAS Biochemistry:
calcium voltage-gated channel (VDCC),P/Q type,alpha 1A subunit,isoform 4,abundantly expressed in neuronal tissue,containing a GCG repeat in 5utr (exon 47) responsible of cytoplasmic aggregation in the Purkinje cell,ortholog of the mouse gene responsible for the phenotypes,tottering (tg) and leaner (tgla)

Phenotypes From GWAS Catalog for CACNA1A Gene

Gene Ontology (GO) - Molecular Function for CACNA1A 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 TAS,IEA --
GO:0005261 cation channel activity IBA --
GO:0005262 calcium channel activity TAS,IEA --
genes like me logo Genes that share ontologies with CACNA1A: view
genes like me logo Genes that share phenotypes with CACNA1A: view

Human Phenotype Ontology for CACNA1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CACNA1A Gene

MGI Knock Outs for CACNA1A:

Animal Model Products

  • Taconic Biosciences Mouse Models for CACNA1A

miRNA for CACNA1A Gene

miRTarBase miRNAs that target CACNA1A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CACNA1A Gene

Localization for CACNA1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNA1A Gene

Cell 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 CACNA1A gene
Compartment Confidence
plasma membrane 5
nucleus 5
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CACNA1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16595610
GO:0005737 cytoplasm IDA 16595610
GO:0005886 plasma membrane TAS --
GO:0005891 voltage-gated calcium channel complex IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CACNA1A: view

Pathways & Interactions for CACNA1A Gene

genes like me logo Genes that share pathways with CACNA1A: view

Gene Ontology (GO) - Biological Process for CACNA1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IBA,IEA --
GO:0007204 positive regulation of cytosolic calcium ion concentration ISS --
GO:0007214 gamma-aminobutyric acid signaling pathway IEA --
GO:0007268 chemical synaptic transmission IEA,IBA --
genes like me logo Genes that share ontologies with CACNA1A: view

No data available for SIGNOR curated interactions for CACNA1A Gene

Drugs & Compounds for CACNA1A Gene

(99) Drugs for CACNA1A Gene - From: DrugBank, PharmGKB, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pregabalin Approved, Illicit, Investigational Pharma modulator, Target, inhibitor GABA analog/VDCC ligand;anticonvulsant/anxiolytic analgesic 383
Bepridil Approved, Withdrawn Pharma Pore Blocker, blocker, Target, inhibitor 0
Loperamide Approved Pharma Target, inhibitor 160
Nisoldipine Approved Pharma Gating inhibitor, blocker 5
Nitrendipine Approved, Investigational Pharma Inhibition, Pore Blocker Calcium channel blocker, Ca2+ channel blocker (L-type) 5

(8) Additional Compounds for CACNA1A Gene - From: HMDB, IUPHAR, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
omega-agatoxin IVA
Channel blocker
omega-agatoxin IVB
Channel blocker
omega-conotoxin MVIIC
Channel blocker
O-Desmethylverapamil (D-702)
(+-)-Bay K 8644
71145-03-4

(5) Tocris Compounds for CACNA1A 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 CACNA1A: view

Transcripts for CACNA1A Gene

mRNA/cDNA for CACNA1A Gene

Unigene Clusters for CACNA1A Gene

Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CACNA1A Gene

No ASD Table

Relevant External Links for CACNA1A Gene

GeneLoc Exon Structure for
CACNA1A
ECgene alternative splicing isoforms for
CACNA1A

Expression for CACNA1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CACNA1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNA1A Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x16.8) and Brain - Cerebellum (x16.7).

Protein differential expression in normal tissues from HIPED for CACNA1A Gene

This gene is overexpressed in Frontal cortex (51.9) and Pancreatic juice (14.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CACNA1A Gene



Protein tissue co-expression partners for CACNA1A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CACNA1A Gene:

CACNA1A

SOURCE GeneReport for Unigene cluster for CACNA1A Gene:

Hs.501632

mRNA Expression by UniProt/SwissProt for CACNA1A Gene:

O00555-CAC1A_HUMAN
Tissue specificity: Brain specific; mainly found in cerebellum, cerebral cortex, thalamus and hypothalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in heart, kidney, liver or muscle. Purkinje cells contain predominantly P-type VSCC, the Q-type being a prominent calcium current in cerebellar granule cells.

Evidence on tissue expression from TISSUES for CACNA1A Gene

  • Nervous system(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNA1A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • mouth
  • neck
  • pharynx
Thorax:
  • esophagus
Abdomen:
  • stomach
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with CACNA1A: view

Orthologs for CACNA1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CACNA1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNA1A 34 33
  • 98.85 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 94 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
-- 34
  • 46 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CACNA1A 34 33
  • 92.98 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CACNA1A 34 33
  • 92.01 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cacna1a 16 34 33
  • 86.62 (n)
rat
(Rattus norvegicus)
Mammalia Cacna1a 33
  • 86.48 (n)
oppossum
(Monodelphis domestica)
Mammalia CACNA1A 34
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 88 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cacna1a 33
  • 71.39 (n)
zebrafish
(Danio rerio)
Actinopterygii cacna1aa 34
  • 78 (a)
OneToMany
cacna1ab 34 33
  • 69.74 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta cac 35
  • 58 (a)
rice
(Oryza sativa)
Liliopsida Os.46813 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
OneToMany
Species where no ortholog for CACNA1A 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)
  • chicken (Gallus gallus)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for CACNA1A Gene

ENSEMBL:
Gene Tree for CACNA1A (if available)
TreeFam:
Gene Tree for CACNA1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CACNA1A: view image

Paralogs for CACNA1A Gene

Paralogs for CACNA1A Gene

(12) SIMAP similar genes for CACNA1A Gene using alignment to 12 proteins:

  • CAC1A_HUMAN
  • B3SZS3_HUMAN
  • B5TYJ1_HUMAN
  • I3L2V5_HUMAN
  • I3L391_HUMAN
  • K7EIF8_HUMAN
  • K7EKF7_HUMAN
  • K7EQ95_HUMAN
  • O95387_HUMAN
  • Q9NS89_HUMAN
  • Q9UHM9_HUMAN
  • Q9UN69_HUMAN

Pseudogenes.org Pseudogenes for CACNA1A Gene

genes like me logo Genes that share paralogs with CACNA1A: view

Variants for CACNA1A Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA1A Gene

CAC1A_HUMAN-O00555
The poly-Gln region of CACNA1A is polymorphic: 6 to 17 repeats in the normal population, expanded to about 21 to 30 repeats in SCA6. Repeat expansion has been reported also in a EA2 family.

Sequence variations from dbSNP and Humsavar for CACNA1A Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1005732031 uncertain-significance, Epileptic encephalopathy, early infantile, 42, Episodic ataxia type 2 13,365,356(-) T/C coding_sequence_variant, missense_variant
rs1034627495 uncertain-significance, Epileptic encephalopathy, early infantile, 42, Episodic ataxia type 2 13,231,707(-) C/T intron_variant
rs1038705410 uncertain-significance, Epileptic encephalopathy, early infantile, 42, Episodic ataxia type 2 13,298,570(-) G/T coding_sequence_variant, missense_variant
rs1057518779 likely-pathogenic, Cerebellar ataxia, Dysarthria, Intention tremor, Mild global developmental delay, Spastic paraparesis 13,371,745(-) G/A coding_sequence_variant, missense_variant
rs1057519429 pathogenic, likely-pathogenic, Cerebellar ataxia, Cerebellar atrophy, Intellectual disability 13,235,666(-) C/G/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for CACNA1A Gene

Variant ID Type Subtype PubMed ID
dgv1022e212 CNV loss 25503493
dgv1713n106 CNV deletion 24896259
dgv1714n106 CNV tandem duplication 24896259
dgv3438n100 CNV gain 25217958
esv1689364 CNV insertion 17803354
esv2665817 CNV deletion 23128226
esv2718201 CNV deletion 23290073
esv2718202 CNV deletion 23290073
esv3307138 CNV mobile element insertion 20981092
esv3345059 CNV insertion 20981092
esv34036 CNV loss 18971310
esv3414118 CNV duplication 20981092
esv3429165 CNV insertion 20981092
esv3643722 CNV loss 21293372
esv4302 CNV loss 18987735
esv7746 CNV gain 19470904
nsv1062073 CNV gain 25217958
nsv1071509 CNV deletion 25765185
nsv1072861 CNV deletion 25765185
nsv1125668 CNV tandem duplication 24896259
nsv1126513 CNV deletion 24896259
nsv138156 CNV insertion 16902084
nsv138168 CNV deletion 16902084
nsv510468 OTHER sequence alteration 20534489
nsv520548 CNV loss 19592680
nsv523990 CNV loss 19592680
nsv525967 CNV gain 19592680
nsv819328 CNV loss 19587683
nsv833755 CNV gain 17160897

Variation tolerance for CACNA1A Gene

Residual Variation Intolerance Score: 1.68% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.51; 95.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CACNA1A Gene

Human Gene Mutation Database (HGMD)
CACNA1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNA1A

Disorders for CACNA1A Gene

MalaCards: The human disease database

(55) MalaCards diseases for CACNA1A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CAC1A_HUMAN
  • Spinocerebellar ataxia 6 (SCA6) [MIM:183086]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA6 is an autosomal dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder. {ECO:0000269 PubMed:16325861, ECO:0000269 PubMed:20682717, ECO:0000269 PubMed:8988170, ECO:0000269 PubMed:9302278, ECO:0000269 PubMed:9345107}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]: A subtype of migraine with aura associated with ictal hemiparesis and, in some families, cerebellar ataxia and atrophy. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. {ECO:0000269 PubMed:10408532, ECO:0000269 PubMed:11409427, ECO:0000269 PubMed:11439943, ECO:0000269 PubMed:15032980, ECO:0000269 PubMed:18400034, ECO:0000269 PubMed:24836863, ECO:0000269 PubMed:26716990, ECO:0000269 PubMed:28900389, ECO:0000269 PubMed:8898206}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Episodic ataxia 2 (EA2) [MIM:108500]: An autosomal dominant disorder characterized by acetozolamide-responsive attacks of ataxia, migraine-like symptoms, interictal nystagmus, and cerebellar atrophy. {ECO:0000269 PubMed:10987655, ECO:0000269 PubMed:11176968, ECO:0000269 PubMed:11723274, ECO:0000269 PubMed:12420090, ECO:0000269 PubMed:14718690, ECO:0000269 PubMed:15173248, ECO:0000269 PubMed:15293273, ECO:0000269 PubMed:18602318, ECO:0000269 PubMed:19232643, ECO:0000269 PubMed:20129625, ECO:0000269 PubMed:21696515, ECO:0000269 PubMed:8898206, ECO:0000269 PubMed:9302278}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epileptic encephalopathy, early infantile, 42 (EIEE42) [MIM:617106]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE42 inheritance is autosomal dominant. {ECO:0000269 PubMed:27250579, ECO:0000269 PubMed:27476654}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CACNA1A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for CACNA1A Gene

  1. Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. (PMID: 20129625) Mantuano E … Mariotti C (Journal of the neurological sciences 2010) 3 4 22 44 58
  2. The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility. (PMID: 19429006) D'Onofrio M … Buzzi MG (Neuroscience letters 2009) 3 4 22 44 58
  3. Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation. (PMID: 18602318) Zafeiriou DI … Jurkat-Rott K (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2009) 3 4 22 58
  4. Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients. (PMID: 18513263) Thomsen LL … Olesen J (Cephalalgia : an international journal of headache 2008) 3 22 44 58
  5. Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. (PMID: 19235102) Rajkiewicz M … Zaremba J (Neurologia i neurochirurgia polska 2008) 3 22 44 58

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