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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 DREAM Repression and Dynorphin Expression and Sweet Taste Signaling. 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

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

Genomics for CACNA1A Gene

Regulatory Elements for CACNA1A Gene

Enhancers for CACNA1A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F013333 0.3 FANTOM5 21.6 +299.0 299025 0.2 CACNA1A MAST1 GC19M013313 GC19M013349
GH19F013621 1.6 FANTOM5 Ensembl ENCODE 10.8 +11.5 11468 1.0 HDAC1 ARID4B SIN3A BMI1 ZBTB40 RAD21 ZNF48 ZNF335 GATA4 ZNF143 CACNA1A GC19M013614 GC19P013560
GH19F013629 0.2 ENCODE 9.7 +3.2 3152 1.2 JUND ATF3 BHLHE40 CEBPB NFE2 MNT PRDM10 FOS CACNA1A GC19M013614
GH19F013206 1 Ensembl ENCODE 7.9 +423.9 423902 4.6 CTCF PKNOX1 MXI1 TBL1XR1 HINFP NFXL1 ZFHX2 ZNF366 POLR2A ZNF143 CACNA1A GC19P013200 GC19M013244
GH19F013507 0.4 ENCODE 6.6 +126.9 126899 0.8 ZNF664 POLR2A ZNF24 ZNF670 EZH2 CACNA1A GC19P013560 PIR32691
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CACNA1A on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the CACNA1A gene promoter:

Genomic Location for CACNA1A Gene

Chromosome:
19
Start:
13,206,442 bp from pter
End:
13,633,025 bp from pter
Size:
426,584 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 Asn 283
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CACNA1A Gene

Domains & Families for CACNA1A Gene

Gene Families for CACNA1A Gene

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

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)
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).

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 IEA,TAS --
GO:0005262 calcium channel activity IEA,TAS --
GO:0005515 protein binding IPI 8692999
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

Flow Cytometry 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

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CACNA1A Gene COMPARTMENTS Subcellular localization image for CACNA1A gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 5
chloroplast 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1

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 IDA,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:0000096 sulfur amino acid metabolic process IEA --
GO:0006006 glucose metabolic process IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
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

(94) Drugs for CACNA1A Gene - From: DrugBank, PharmGKB, ApexBio, 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, Anticonvulsant; selectively binds the alpha2delta subunit of voltage-sensitive calcium channels 355
Bepridil Approved, Withdrawn Pharma Pore Blocker, blocker, Target, inhibitor 0
Loperamide Approved Pharma Target, inhibitor 143
Nisoldipine Approved Pharma Gating inhibitor, blocker 5
Spironolactone Approved Pharma Antagonist, Target 222

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
omega-agatoxin IVA
Channel blocker 145017-83-0
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
Mibefradil dihydrochloride Ca2+ channel blocker (T-type) 116666-63-8
omega-Agatoxin IVA Ca2+ channel blocker (P-type) 145017-83-0
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

(77) ApexBio Compounds for CACNA1A Gene

Compound Action Cas Number
(-)-Xestospongin C 88903-69-9
(R)-(+)-Bay K 8644 98791-67-4
(S)-(-)-Bay K 8644 98625-26-4
2-APB 524-95-8
A23187, free acid Ca2+ ionophore 52665-69-7
A-7 hydrochloride 79127-24-5
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
Bepridil hydrochloride 68099-86-5
Calmidazolium chloride 57265-65-3
CALP1 145224-99-3
CALP2 261969-04-4
CALP3 261969-05-5
Camstatin 1002295-95-5
CGS 9343B 109826-27-9
Cilnidipine Blocker of Dual L- and N-type calcium channel 132203-70-4
Cinepazide maleate 26328-04-1
cis-Ned 19 1137264-00-6
Clevidipine Butyrate 167221-71-8
Dantrolene, sodium salt 14663-23-1
Dehydroepiandrosterone (DHEA) Endogenous steroid hormone 53-43-0
DHBP dibromide 6159-05-3
Diltiazem HCl 33286-22-5
Efonidipine hydrochloride monoethanolate 111011-76-8
Felodipine 72509-76-3
Flunarizine 2HCl Calcium entry blocker 30484-77-6
FPL 64176 120934-96-5
Gabapentin enacarbil 478296-72-9
Gabapentin HCl GABA analog 60142-95-2
Gadolinium chloride 10138-52-0
Huwentoxin XVI N-type Ca2+ channel blocker,potent and selective 1600543-88-1
Ionomycin calcium salt ionophore 56092-82-1
Ionomycin free acid calcium ionophore 56092-81-0
Isradipine (Dynacirc) Calcium channel blocker 75695-93-1
L-651,582 99519-84-3
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
Mibefradil Calcium channel blocker 116644-53-2
ML 218 hydrochloride 1346233-68-8
MRS 1845 544478-19-5
NAADP tetrasodium salt 5502-96-5
Nicardipine HCl 54527-84-3
Nilvadipine 75530-68-6
Nisoldipine 63675-72-9
Nitrendipine Calcium channel blocker 39562-70-4
NP118809 N-type calcium channel blocker 41332-24-5
Osthole Antitumor reagent 484-12-8
PD 173212 217171-01-2
Pregabalin GABA analog/VDCC ligand;anticonvulsant/anxiolytic analgesic 148553-50-8
ProTx I 484598-35-8
Ranolazine 2HCl Partial fatty acid oxidation inhibitor 95635-56-6
Ruthenium Red 11103-72-3
Ryanodine 15662-33-6
SNX 482 203460-30-4
SR 33805 oxalate 121346-33-6
STO-609 acetate 1173022-21-3
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
trans-Ned 19 1354235-96-3
Verapamil HCl 152-11-4
W-13 hydrochloride 88519-57-7
W-5 hydrochloride 61714-25-8
W-7 hydrochloride 61714-27-0
W-9 hydrochloride 69762-85-2
YM 58483 223499-30-7
Zonisamide Antiepileptic with anticonvulsant and mechanistic effect 68291-97-4
Zonisamide sodium 68291-98-5
ω-Agatoxin IVA 145017-83-0
ω-Agatoxin TK 158484-42-5
ω-Conotoxin GVIA 106375-28-4
ω-Conotoxin MVIIC 147794-23-8
genes like me logo Genes that share compounds with CACNA1A: view

Drug Products

Transcripts for CACNA1A Gene

Unigene Clusters for CACNA1A Gene

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

Flow Cytometry 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 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, PaxDb, 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.
genes like me logo Genes that share expression patterns with CACNA1A: view

Primer Products

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 35
  • 98.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 94 (a)
OneToMany
-- 35
  • 83 (a)
OneToMany
-- 35
  • 46 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CACNA1A 34 35
  • 92.98 (n)
cow
(Bos Taurus)
Mammalia CACNA1A 34 35
  • 92.01 (n)
mouse
(Mus musculus)
Mammalia Cacna1a 34 16 35
  • 86.62 (n)
rat
(Rattus norvegicus)
Mammalia Cacna1a 34
  • 86.48 (n)
oppossum
(Monodelphis domestica)
Mammalia CACNA1A 35
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 88 (a)
OneToMany
-- 35
  • 83 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cacna1a 34
  • 71.39 (n)
zebrafish
(Danio rerio)
Actinopterygii cacna1aa 35
  • 78 (a)
OneToMany
cacna1ab 34 35
  • 69.74 (n)
fruit fly
(Drosophila melanogaster)
Insecta cac 36
  • 58 (a)
rice
(Oryza sativa)
Liliopsida Os.46813 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for CACNA1A Gene

Paralogs for CACNA1A Gene

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 Sequence Context AA Info Type
rs121908211 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500], Pathogenic 13,371,744(-) CCTAC(A/G)GACGC reference, missense
rs121908212 Episodic ataxia 2 (EA2) [MIM:108500], Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500], Pathogenic 13,303,877(-) CCTGA(C/T)GGGCG reference, missense
rs121908213 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500], Pathogenic 13,303,580(-) CGCTG(C/T)GGACA reference, missense
rs121908214 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500], Pathogenic 13,230,185(-) CCGTC(A/C)TCATG reference, missense
rs121908215 Episodic ataxia 2 (EA2) [MIM:108500], Spinocerebellar ataxia 6 (SCA6) [MIM:183086], Pathogenic 13,359,707(-) GGGAA(A/G)GGCCC reference, missense

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)

Relevant External Links 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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 6
  • spinocerebellar ataxia type 6
episodic ataxia, type 2
  • episodic ataxia type 2
migraine, familial hemiplegic, 1
  • migraine, familial hemiplegic, 1, with progressive cerebellar ataxia
epileptic encephalopathy, early infantile, 42
  • eiee42
familial hemiplegic migraine
  • fhm
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CAC1A_HUMAN
  • 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.
  • 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:8898206}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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:9345107}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CACNA1A

Genetic Association Database (GAD)
CACNA1A
Human Genome Epidemiology (HuGE) Navigator
CACNA1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CACNA1A
genes like me logo Genes that share disorders with CACNA1A: view

No data available for Genatlas for CACNA1A Gene

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. (J. Neurol. Sci. 2010) 3 4 22 46 64
  2. The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility. (PMID: 19429006) D'Onofrio M. … Buzzi M.G. (Neurosci. Lett. 2009) 3 4 22 46 64
  3. Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation. (PMID: 18602318) Zafeiriou D.I. … Jurkat-Rott K. (Eur. J. Paediatr. Neurol. 2009) 3 4 22 64
  4. Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients. (PMID: 18513263) Thomsen L.L. … Olesen J. (Cephalalgia 2008) 3 22 46 64
  5. Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. (PMID: 19235102) Rajkiewicz M. … Zaremba J. (Neurol. Neurochir. Pol. 2008) 3 22 46 64

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