CACNA1A Gene
protein-coding GIFtS: 68
GCID: GC19M013317
|
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
(Previous symbols: CACNL1A4, SCA6, MHP1, MHP)
| |
Aliases
for CACNA1A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Calcium Channel, Voltage-Dependent, P/Q Type, Alpha 1A Subunit1 2 | | Voltage-Gated Calcium Channel Subunit Alpha Cav2.12 3 | | CACNL1A41 2 3 5 | | BI2 3 | | SCA61 2 5 | | Cav2.11 | | APCA1 2 | | CAV2.12 | | EA21 2 | | Brain Calcium Channel 12 | | FHM1 2 | | Calcium Channel, L Type, Alpha-1 Polypeptide2 | | HPCA1 2 | | Voltage-Dependent P/Q-Type Calcium Channel Subunit Alpha-1A2 | | MHP1 2 | | CACH43 | | MHP11 2 | | CACN33 | | Brain Calcium Channel I2 3 | | Calcium Channel, L Type, Alpha-1 Polypeptide Isoform 43 |
Export aliases for CACNA1A gene to outside databasesPrevious GC identifers: GC19M013650 GC19M013162 GC19M013179 GC19M013178 GC19M012889 |
Summaries
for CACNA1A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for CACNA1A:
Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in avariety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and geneexpression. 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 subunitsregulating this activity. The distinctive properties of the calcium channel types are related primarily to theexpression 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 neurologicdisorders, 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 oftranscript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in anotherset of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutaminetract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated withspinocerebellar ataxia 6. (provided by RefSeq, Mar 2010)
UniProtKB/Swiss-Prot: CAC1A_HUMAN, O00555Function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are alsoinvolved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitterrelease, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/orQ-type calcium currents. P/Q-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blockedby the funnel toxin (Ftx) and by the omega-agatoxin-IVA (omega-Aga-IVA). They are however insensitive todihydropyridines (DHP), and omega-conotoxin-GVIA (omega-CTx-GVIA)
 summary
for CACNA1A: Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium
influx in response to depolarisation. They regulate intracellular processes such as contraction, secretion,
neurotransmission and gene expression. Voltage-gated calcium channels are formed from four or five distinct
subunits; the alpha-subunit is the largest subunit and incorporates the voltage sensor, conduction pore and
gating apparatus. Using pharmacological and electrophysiological techniques, at least 6 types of
voltage-gated channels have been identified: L, N, P, Q, R and T, which are grouped into three families.
Cav1.x are high-voltage-activated dihydropyridine-sensitive (L-type), Cav2.x are high-voltage-activated
dihydropyridine-insensitive (N-, P- Q- and R-types) and Cav3.x are low-voltage-activated channels (T-type).
Gene Wiki entry for CACNA1A (Cav2.1)
|
Genomic Views
for CACNA1A gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000019.9 NC_018930.1 NT_011295.11
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CACNA1A gene promoter:
TBP S8 c-Myb
Other transcription factors
Search SABiosciences Chromatin IP Primers for CACNA1A
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CACNA1A |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19p13 Ensembl cytogenetic band: 19p13.2 HGNC cytogenetic band: 19p13CACNA1A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19M013317: view genomic region
(about GC identifiers)
Start:
|
13,317,256 bp from pter |
End:
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13,734,804 bp from pter |
Size:
|
417,549 bases |
Orientation:
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minus strand |
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Proteins
for CACNA1A gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CAC1A_HUMAN, O00555 (See
protein sequence)Recommended Name: Voltage-dependent P/Q-type calcium channel subunit alpha-1A Size: 2505 amino acids; 282365 Da
Subunit: Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and deltasubunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. Theauxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interact (viaC-terminal CDB motif) with CABP1 in the pre- and postsynaptic membranes
Subcellular location: Membrane; Multi-pass membrane protein
1 PDB 3D structure from  and Proteopedia  for CACNA1A:3BXK (3D)
Secondary accessions: J3KP41 P78510 P78511 Q16290 Q92690 Q99790 Q99791 Q99792 Q99793 Q9NS88 Q9UDC4Alternative splicing: 8 isoforms: O00555-1 O00555-2 O00555-3 O00555-4 O00555-5 O00555-6 O00555-7 O00555-8 Explore the universe of human proteins at neXtProt for CACNA1A: NX_O00555
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O00555
CACNA1A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (5 alternative transcripts):
NP_000059.3 NP_001120693.1 NP_001120694.1 NP_001167551.1 NP_075461.2
ENSEMBL proteins: ENSP00000353362 ENSP00000467729 ENSP00000465598 ENSP00000460092 ENSP00000460276 ENSP00000459963 ENSP00000468712 ENSP00000464729 ENSP00000317661 Reactome Protein details: O00555
Human Recombinant Protein Products:
Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table
CACNA1A for ontologies About GeneDecksing
CACNA1A Antibody Products:
Assay Products for CACNA1A: |
Protein
Domains /
Families
for CACNA1A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CACNA1A for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry O00555ProtoNet protein and cluster: O00555 2 Blocks protein families: IPB002077 Calcium channel signature IPB005448 P/Q-type voltage-dependent calcium channel alpha-1 subunit signature
UniProtKB/Swiss-Prot: CAC1A_HUMAN, O00555Domain: Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and onepositively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterizedby a series of positively charged amino acids at every third positionSimilarity: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1A subfamily |
Function
for CACNA1A gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: CAC1A_HUMAN, O00555Function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are alsoinvolved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitterrelease, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/orQ-type calcium currents. P/Q-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blockedby the funnel toxin (Ftx) and by the omega-agatoxin-IVA (omega-Aga-IVA). They are however insensitive todihydropyridines (DHP), and omega-conotoxin-GVIA (omega-CTx-GVIA) Genatlas biochemistry entry for CACNA1A:calcium voltage-gated channel (VDCC),P/Q type,alpha 1A subunit,isoform 4,abundantly expressed in neuronaltissue,containing a GCG repeat in 5'utr (exon 47) responsible of cytoplasmic aggregation in the Purkinje cell,orthologof the mouse gene responsible for the phenotypes,tottering (tg) and leaner (tgla)
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CACNA1A (see all 7)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CACNA1A (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 5): CACNA1A (NM_001127221) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CACNA1A | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CACNA1A |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNA1A |
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table
CACNA1A for ontologies About GeneDecksing
4 GenomeRNAi human phenotypes for CACNA1A:
Animal Models:
Mouse knock-outs for CACNA1A: Cacna1atm1Nobs Cacna1atm1Hssh Cacna1atm1Fcr Cacna1atm2.2Maag
14 MGI mutant phenotypes (inferred from 28 alleles ) (MGI details for Cacna1a):
CACNA1A for phenotypes About GeneDecksing
|
Pathways & Interactions
for CACNA1A gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/36 super-pathways (see all 36) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | DREAM Repression and Dynorphin Expression | | | 2 | PKC-Theta Pathway | | | 3 | Sweet Taste Signaling | | | 4 | Activation of cAMP-Dependent PKA | | | 5 | NFAT and Cardiac Hypertrophy | |
Pathway sources
See GeneCards unified pathways
Show all pathways
3 EMD Millipore Pathways for CACNA1A
5/39 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CACNA1A (see all 39)
1  GeneGo (Thomson Reuters) Pathway for CACNA1A
3  BioSystems Pathways for CACNA1A
5/6 
Reactome Pathways for CACNA1A (see all 6)
3  PharmGKB Pathways for CACNA1A
5/7 
Kegg Pathways (Kegg details for CACNA1A) (see all 7):
CACNA1A for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CACNA1A
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/167 Interacting proteins for CACNA1A (O005551, 2, 3 ENSP000003533624) via UniProtKB, MINT, STRING, and/or I2D (see all 167)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| ABI1 | Q8IZP01, 3 | EBI-766279,EBI-375446 I2D:
score=1 | | AMIGO2 | Q86SJ21, 3 | EBI-766279,EBI-3866830 I2D:
score=1 | | ARHGAP22 | Q7Z5H31, 3 | EBI-766279,EBI-3866859 I2D:
score=1 | | BZRAP1 | O951531, 3 | EBI-766279,EBI-5915931 I2D:
score=1 | | CSNK2B | P678701, 3 | EBI-766279,EBI-3866975 I2D:
score=1 |
About this table
Gene Ontology (GO): 5/47 biological process terms (GO ID links to tree view) (see all 47): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000096 | sulfur amino acid metabolic process |
-- | -- | | GO:0006006 | glucose metabolic process |
-- | -- | | GO:0006112 | energy reserve metabolic process |
TAS | -- | | GO:0006816 | calcium ion transport |
-- | -- | | GO:0007204 | elevation of cytosolic calcium ion concentration |
ISS | -- |
CACNA1A for ontologies About GeneDecksing
|
Drugs & Compounds
for CACNA1A gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
CACNA1A for compounds About GeneDecksing
Compounds for CACNA1A available from Tocris Bioscience About this table
2 HMDB Compounds for CACNA1A About this table
4 DrugBank Compounds for CACNA1A About this table
10/12 Novoseek chemical compound relationships for CACNA1A gene (see all 12) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| acetazolamide |
76.2 |
7 |
16583725 (3), 9600739 (2), 9771787 (1), 10408534 (1) |
| calcium |
67.6 |
147 |
12704197 (5), 8988170 (4), 16927961 (3), 9436352 (2) (see all 99) |
| glutamine |
51.9 |
17 |
10369863 (2), 10964945 (2), 8988170 (2), 17395139 (2) (see all 9) |
| potassium |
18.1 |
2 |
15136697 (1), 15167063 (1) |
| 4-aminopyridine |
5.55 |
2 |
15136697 (1) |
| valproic acid |
3.66 |
3 |
16583725 (3) |
| lysine |
0 |
1 |
11409427 (1) |
| sodium |
0 |
4 |
18056581 (1), 16866717 (1), 15167063 (1) |
| threonine |
0 |
1 |
17292920 (1) |
| glutamate |
0 |
2 |
16116111 (1), 12704197 (1) |
Search CenterWatch for drugs/clinical trials and news about CACNA1A / CAC1A
|
Transcripts
for CACNA1A gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CACNA1A gene (5 alternative transcripts): NM_000068.3 NM_001127221.1 NM_001127222.1 NM_001174080.1 NM_023035.2 Unigene Cluster for CACNA1A: Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit Hs.501632 [show with all ESTs]Unigene Representative Sequence: NM_02303514 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000360228(uc002mwx.3) ENST00000587525 ENST00000585802 ENST00000573710
ENST00000586190 ENST00000574822 ENST00000573891 ENST00000593267 ENST00000590205
ENST00000593160 ENST00000574974 ENST00000587451 ENST00000592864 ENST00000325084(uc002mwv.3 uc010dzc.2 uc010xnd.2 uc021ups.1 uc010xne.2 uc002mwy.3 uc010dze.2 uc021upt.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CACNA1A (see all 7)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CACNA1A (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 5): CACNA1A (NM_001127221) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CACNA1A | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CACNA1A |
Additional cDNA sequence: AB035726.1 AB035727.2 AF004883.1 AF004884.1 AF100774.1 BC028611.1 EU016197.1 FJ040507.1 S76537.1 U06702.1 U79663.1 U79664.1 U79665.1 U79666.1 U79667.1 U79668.1 X99897.1 4 DOTS entries: DT.100750127 DT.101446 DT.102825806 DT.75130950 24/107 AceView cDNA sequences (see all 107): AF004883 BM725354 NM_000068 AI590622 NM_023035 CK822218 U79666 BC042451 BF726609 BQ184672 BM313132 BQ186097 BX102272 BM509714 BX508004 CA774694 AW593481 AA297200 AB035727 BE888589 BM314880 S76537 BV204494 U06702
GeneLoc Exon Structure
|
Expression
for CACNA1A gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CACNA1A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACATTCAAAA
About this image
See CACNA1A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CACNA1A
SOURCE GeneReport for Unigene cluster: Hs.501632
UniProtKB/Swiss-Prot: CAC1A_HUMAN, O00555Tissue specificity: Brain specific; mainly found in cerebellum, cerebral cortex, thalamus and hypothalamus. Expressedin the small cell lung carcinoma cell line SCC-9. No expression in heart, kidney, liver or muscle. Purkinje cellscontain predominantly P-type VSCC, the Q-type being a prominent calcium current in cerebellar granule cells
SABiosciences Expression via Pathway-Focused PCR Arrays including CACNA1A:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CACNA1A
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CACNA1A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CACNA1A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CACNA1A | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNA1A |
Orthologs
for CACNA1A gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for CACNA1A gene from 5/20 species (see all 20) About this table
ENSEMBL Gene Tree for CACNA1A (if available)
TreeFam Gene Tree for CACNA1A (if available) |
Paralogs
for CACNA1A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CACNA1A gene
- SCN5A2 SCN9A2 CACNA1D2 CACNA1I2 SCN7A2 CACNA1F2 SCN8A2 CACNA1G2
- SCN10A2 SCN3A2 CACNA1E2 SCN2A2 CACNA1S2 CACNA1C2 CACNA1H2 SCN11A2
- SCN4A2 SCN1A2 CACNA1B2
14 SIMAP similar genes for CACNA1A using alignment to 13 protein entries: CAC1A_HUMAN (see all proteins):CACNA1B CACNA1E SCN5A SCN3A SCN4A SCN1A
CACNA1D CACNA1G CACNA1S CACNA1C SCN9A TPCN1
CACNA1F CACNA1H
CACNA1A for paralogs About GeneDecksing
|
Genomic Variants
for CACNA1A gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
UniProtKB/Swiss-Prot: CAC1A_HUMAN, O00555Polymorphism: The poly-Gln region of CACNA1A is polymorphic: 6 to 17 repeats in the normal population, expanded toabout 21 to 30 repeats in SCA6. Repeat expansion has been reported also in a EA2 family
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CACNA1A (13317256 - 13567256 bp, first 250kb of CACNA1A)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for CACNA1A
2 CNVs: 50072 47866
3 Indels: 58860 42629 60274
Human Gene Mutation Database (HGMD): CACNA1A
Locus Specific Mutation Databases (LSDB): CACNA1A
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CACNA1A |
|
Disorders
/ Diseases
for CACNA1A gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CACNA1A for disorders About GeneDecksing
OMIM gene information: 601011
OMIM disorders: 141500 108500 183086
UniProtKB/Swiss-Prot: CAC1A_HUMAN, O00555
Defects in CACNA1A are the cause of spinocerebellar ataxia type 6 (SCA6) [MIM:183086]. Spinocerebellar ataxiais a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordinationof gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum withvariable involvement of the brainstem and spinal cord. SCA6 is mainly caused by expansion of a CAG repeat in thecoding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder Defects in CACNA1A are the cause of familial hemiplegic migraine type 1 (FHM1) [MIM:141500]; also known asmigraine familial hemiplegic 1 (MHP1). FHM1, a rare autosomal dominant subtype of migraine with aura, is associatedwith ictal hemiparesis and, in some families, progressive cerebellar atrophy Defects in CACNA1A are the cause of episodic ataxia type 2 (EA2) [MIM:108500]; also known asacetazolamide-responsive hereditary paroxysmal cerebellar ataxia (APCA). EA2 is an autosomal dominant disordercharacterized by acetozolamide-responsive attacks of ataxia, migraine-like symptoms, interictal nystagmus, andcerebellar atrophy
20/68  diseases for CACNA1A (see all 68): About MalaCardshemiplegic migraine episodic ataxia spinocerebellar ataxia familial hemiplegic migraine
lambert-eaton myasthenic syndrome migraine ataxia machado-joseph disease
episodic ataxia type 2 dentatorubral-pallidoluysian atrophy spinocerebellar ataxia type 6 cerebellar ataxia, pure
cluster headache alternating hemiplegia of childhood spinocerebellar ataxia type 12 migraine without aura
spinocerebellar ataxia type 7 myasthenic syndrome absence epilepsy restless legs syndrome
6 diseases from the University of Copenhagen DISEASES database for CACNA1A:Migraine Cerebellar ataxia Spinocerebellar ataxia Hemiplegia
Neuropathy Myopathy 10/39 Novoseek disease relationships for CACNA1A gene (see all 39) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| hemiplegic migraine familial |
98.6 |
86 |
12940811 (2), 18976783 (2), 11167897 (2), 12705332 (2) (see all 76) |
| episodic ataxia, type 2 |
98.5 |
58 |
11179022 (2), 16325861 (2), 18541804 (2), 12525875 (2) (see all 40) |
| spinocerebellar ataxia type 6 |
98.1 |
62 |
10945665 (2), 12707077 (2), 11427317 (2), 9371900 (1) (see all 47) |
| migraine hemiplegic |
96.7 |
32 |
11439943 (4), 14624354 (2), 18513263 (2), 16116111 (2) (see all 22) |
| migraine |
87.2 |
82 |
11803518 (4), 16927961 (4), 15449251 (3), 9741473 (3) (see all 45) |
| spinocerebellar ataxias |
86.1 |
7 |
16876337 (1), 16325861 (1), 19953482 (1), 10369884 (1) (see all 7) |
| sca12 |
81.3 |
7 |
19235102 (2), 17516099 (1), 19953482 (1), 17420317 (1) (see all 5) |
| episodic ataxia, type 1 |
80.9 |
2 |
18180645 (1), 18976783 (1) |
| drpla |
80 |
20 |
12614315 (3), 9613852 (3), 10453742 (3), 17650485 (2) (see all 10) |
| adca iii |
78.4 |
5 |
9559993 (4), 10051016 (1) |
GeneTests: CACNA1A
Episodic Ataxia Type 2Spinocerebellar Ataxia Type 6Familial Hemiplegic Migraine
Genetic Association Database (GAD): CACNA1A
Human Genome Epidemiology (HuGE) Navigator: CACNA1A (23 documents)
Export disorders for CACNA1A gene to outside databases
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Publications
for CACNA1A gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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|
PubMed articles for CACNA1A gene, integrated from 9 sources (see all 373):
(articles sorted by number of sources associating them with CACNA1A) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Investigation of the CACNA1A gene as a candidate for typical migraine susceptibility. (PubMed id 11803518)1, 4, 9 Lea R.A....Griffiths L.R. (2001)
- Identification of novel and recurrent CACNA1A gene mu tations in fifteen patients with episodic ataxia type 2. (PubMed id 20129625)1, 2, 9 Mantuano E....Mariotti C. (2010)
- Missense CACNA1A mutation causing episodic ataxia type 2. (PubMed id 11176968)1, 2, 9 Denier C....Tournier-Lasserve E. (2001)
- Involvement of the CACNA1A gene containing region on 19p13 in migraine with and without aura. (PubMed id 11320173)1, 4, 9 Terwindt G.M....Ferrari M.D. (2001)
- Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. (PubMed id 9302278)1, 2, 9 Jodice C.... Frontali M. (1997)
- Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. (PubMed id 16325861)1, 2, 9 Tonelli A....Bassi M.T. (2006)
- Novel splice site CACNA1A mutation causing episodic ataxia type 2. (PubMed id 14530926)1, 4, 9 Kaunisto M.A....Wessman M. (2004)
- CACNA1A gene polymorphisms in cluster headache. (PubMed id 11843866)1, 4, 9 Sjostrand C....Hillert J. (2001)
- Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM. (PubMed id 10987655)1, 2, 9 Friend K.L....Richards R.I. (1999)
- Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. (PubMed id 8988170)1, 2, 9 Zhuchenko O.... Lee C.C. (1997)
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External Searches for CACNA1A gene
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Genome Databases showing CACNA1A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing CACNA1A gene
(According to HUGE)
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Specialized Databases showing CACNA1A gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for CACNA1A | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CACNA1A |
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| Patent Information for CACNA1A gene:
Search GeneIP for patents involving CACNA1A
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for CACNA1A gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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