CACNA1A Gene (Protein Coding)

Calcium Voltage-Gated Channel Subunit Alpha1 A

GC19M013206
GIFtS:
47
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 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-Dependent P/Q-Type Calcium Channel Subunit Alpha-1A 3 4
  • Voltage-Gated Calcium Channel Subunit Alpha Cav2.1 3 4
  • Brain Calcium Channel I 3 4
  • CACNL1A4 3 4
  • APCA 2 3
  • HPCA 2 3
  • EA2 2 3
  • FHM 2 3
  • BI 3 4
  • Fetal Brain Ca2+ Voltage-Gated Channel Alpha1A Pore-Forming Subunit 3
  • Calcium Channel, L Type, Alpha-1 Polypeptide Isoform 4 4
  • Calcium Channel, L Type, Alpha-1 Polypeptide 3
  • Brain Calcium Channel 1 3
  • CACNA1A 5
  • CAV2.1 3
  • EIEE42 3
  • Cav2.1 2
  • DEE42 3
  • CACH4 4
  • CACN3 4
  • MHP1 3
  • SCA6 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
  • GC19M013178
  • 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 Presenilin-Mediated Signaling and DREAM Repression and Dynorphin Expression. 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 Summary 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 specifically blocked by the spider omega-agatoxin-IVA (AC P54282) (By similarity). They are however insensitive to dihydropyridines (DHP).

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 , Rfam classification and piRNA Summary for CACNA1A Gene

Genomics for CACNA1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CACNA1A Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CACNA1A

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

Genomic Locations for CACNA1A Gene

Latest Assembly
chr19:13,206,442-13,633,025
(GRCh38/hg38)
Size:
426,584 bases
Orientation:
Minus strand

Previous Assembly
chr19:13,317,256-13,617,293
(GRCh37/hg19 by Entrez Gene)
Size:
300,038 bases
Orientation:
Minus strand

chr19:13,317,256-13,734,804
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for CACNA1A Gene

Proteins for CACNA1A Gene

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  • 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:
    2506 amino acids
    Molecular mass:
    282564 Da
    Quaternary structure:
    • Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interacts (via C-terminal CDB motif) with CABP1 in the pre- and postsynaptic membranes. Interacts with the spider omega-agatoxin-IVA (AC P30288).
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for CACNA1A Gene

Protein Expression for CACNA1A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CACNA1A Gene

  • Glycosylation at Asn283
  • Modification sites at PhosphoSitePlus

Other Protein References for CACNA1A Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Protein Domains for CACNA1A Gene

InterPro:
Blocks:
  • Calcium channel signature
  • P/Q-type voltage-dependent calcium channel alpha-1 subunit signature

Suggested Antigen Peptide Sequences for CACNA1A Gene

GenScript: Design optimal peptide antigens:
  • Fetal brain Ca2+ voltage-gated channel alpha1A pore-forming subunit (B3SZS3_HUMAN)
  • Neuronal calcium channel alpha 1a subunit Cav 2.1 (B5TYJ1_HUMAN)
  • Voltage-gated calcium channel subunit alpha Cav2.1 (CAC1A_HUMAN)
  • Voltage-dependent P/Q type calcium channel alpha 1A subunit (O95387_HUMAN)
  • Alpha1A-voltage-dependent calcium channel (Q9NS88_HUMAN)

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

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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 specifically blocked by the spider omega-agatoxin-IVA (AC P54282) (By similarity). They are however insensitive to dihydropyridines (DHP).
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 5'utr (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:0001540 amyloid-beta binding IC 23376566
GO:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity IEA,IGI 21883149
GO:0005261 cation channel activity 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 Models for research

  • Taconic Biosciences Mouse Models for CACNA1A

miRNA for CACNA1A Gene

miRTarBase miRNAs that target CACNA1A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNA1A

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 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 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 IEA,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

PathCards logo

SuperPathways for CACNA1A Gene

SuperPathway Contained pathways
1 DREAM Repression and Dynorphin Expression
BMP Pathway
.44
DREAM Repression and Dynorphin Expression
.44
nNOS Signaling in Skeletal Muscle
.37
Caspase Cascade
.36
Calpain Protease Regulates Cellular Mechanics
.31
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels
.01
2 TCR Signaling (Qiagen)
PKC-Theta Pathway
.68
TCR Signaling
.68
ITK and TCR Signaling
.54
Fc-EpsilonRI Pathway
.49
PDGF Pathway
.39
3 Circadian entrainment
Glutamatergic synapse
.38
Dopaminergic synapse
.36
Cholinergic synapse
.35
4 GABAergic synapse
GABAergic synapse
.51
Morphine addiction
.51
Retrograde endocannabinoid signaling
.36
5 Type II diabetes mellitus
Type II diabetes mellitus
.35
Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics
.35
Type II diabetes mellitus
.33
genes like me logo Genes that share pathways with CACNA1A: view

Pathways by source for CACNA1A Gene

1 GeneGo (Thomson Reuters) pathway for CACNA1A Gene
  • Transcription CREB pathway
39 Qiagen pathways for CACNA1A Gene
  • Activation of cAMP-Dependent PKA
  • all-trans-Retinoic Acid Signaling in Brain
  • Androgen Signaling
  • BMP Pathway
  • Calpain Protease Regulates Cellular Mechanics

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 IEA,IBA 21873635
GO:0007204 positive regulation of cytosolic calcium ion concentration IDA 10753886
GO:0007268 chemical synaptic transmission IBA 21873635
GO:0008219 cell death IDA 16595610
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

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(105) Drugs for CACNA1A Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bepridil Approved, Withdrawn Pharma Target, inhibitor, blocker 0
Loperamide Approved Pharma Target, inhibitor 137
Lacidipine Approved, Investigational Pharma Target, antagonist L-type calcium channel blocker 14
Manidipine Approved, Investigational Pharma Target, blocker Calcium channel blocker 4
Nisoldipine Approved Pharma blocker 6

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ω-agatoxin IVA
Channel blocker
ω-agatoxin IVB
Channel blocker
ω-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

(73) 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
Felodipine 72509-76-3
Flunarizine 2HCl Calcium entry blocker 30484-77-6
FPL 64176 120934-96-5
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
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
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

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Transcripts for CACNA1A Gene

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mRNA/cDNA for CACNA1A Gene

5 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
59 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNA1A

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

No ASD Table

Relevant External Links for CACNA1A Gene

GeneLoc Exon Structure for
CACNA1A

Expression for CACNA1A Gene

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

mRNA expression in normal human tissues for CACNA1A Gene
mRNA expression by GTEx for CACNA1A GenemRNA expression by BioGPS 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Blood(2.2)
  • Skin(2.2)
  • Muscle(2.1)

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

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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 29 30
  • 98.85 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 94 (a)
 OneToMany
-- 30
  • 83 (a)
 OneToMany
-- 30
  • 46 (a)
 OneToMany
Dog
(Canis familiaris)
 Mammalia CACNA1A 29 30
  • 92.98 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CACNA1A 29 30
  • 92.01 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Cacna1a 29 16 30
  • 86.62 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cacna1a 29
  • 86.48 (n)
Oppossum
(Monodelphis domestica)
 Mammalia CACNA1A 30
  • 85 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia -- 30
  • 88 (a)
 OneToMany
-- 30
  • 83 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia cacna1a 29
  • 71.39 (n)
Zebrafish
(Danio rerio)
 Actinopterygii cacna1aa 30
  • 78 (a)
 OneToMany
cacna1ab 29 30
  • 69.74 (n)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta cac 31
  • 58 (a)
Rice
(Oryza sativa)
 Liliopsida Os.46813 29
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 51 (a)
 OneToMany
Species where no ortholog for CACNA1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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
Alliance of Genome Resources:
Additional Orthologs for CACNA1A

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

Products:

  1. SNP Genotyping and Copy Number Assays for research

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CACNA1A Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
1000333 Uncertain Significance: Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 13,262,759(-) G/A
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile) 		MISSENSE
1000651 Uncertain Significance: Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 13,253,053(-) T/C
NM_001127222.2(CACNA1A):c.4804A>G (p.Ile1602Val) 		MISSENSE
1001266 Uncertain Significance: Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 13,228,781(-) T/A
NM_001127222.2(CACNA1A):c.5529-1254A>T 		MISSENSE_VARIANT,INTRON
1002148 Uncertain Significance: Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 13,285,161(-) T/C
NM_001127222.2(CACNA1A):c.3599A>G (p.Glu1200Gly) 		MISSENSE
1002259 Uncertain Significance: Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 13,298,761(-) G/T
NM_001127222.2(CACNA1A):c.2872C>A (p.His958Asn) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CACNA1A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
CACNA1A

SNP Genotyping and Copy Number Assays for research

Disorders for CACNA1A Gene

MalaCards: The human disease database

(123) MalaCards diseases for CACNA1A Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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:29053796, ECO:0000269 PubMed:8988170, ECO:0000269 PubMed:9302278, ECO:0000269 PubMed:9345107}. Note=The disease is caused by variants 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 variants 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:10408533, 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 variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for CACNA1A

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 (Journal of the neurological sciences 2010) 3 4 22 40 72
  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 40
  3. Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. (PMID: 16325861) Tonelli A … Bassi MT (Journal of the neurological sciences 2006) 3 4 22 72
  4. Missense CACNA1A mutation causing episodic ataxia type 2. (PMID: 11176968) Denier C … Tournier-Lasserve E (Archives of neurology 2001) 3 4 22 72
  5. Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM. (PMID: 10987655) Friend KL … Richards RI (Human genetics 1999) 3 4 22 72

ExternalLinks

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