Human Gene CACNA2D1 (ENST00000356860.8_8) from GENCODE V47lift37
  Description: calcium voltage-gated channel auxiliary subunit alpha2delta 1, transcript variant 1 (from RefSeq NM_000722.4)
Gencode Transcript: ENST00000356860.8_8
Gencode Gene: ENSG00000153956.17_13
Transcript (Including UTRs)
   Position: hg19 chr7:81,575,760-82,073,093 Size: 497,334 Total Exon Count: 39 Strand: -
Coding Region
   Position: hg19 chr7:81,579,708-82,072,775 Size: 493,068 Coding Exon Count: 39 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:81,575,760-82,073,093)mRNA (may differ from genome)Protein (1091 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CA2D1_HUMAN
DESCRIPTION: RecName: Full=Voltage-dependent calcium channel subunit alpha-2/delta-1; AltName: Full=Voltage-gated calcium channel subunit alpha-2/delta-1; Contains: RecName: Full=Voltage-dependent calcium channel subunit alpha-2-1; Contains: RecName: Full=Voltage-dependent calcium channel subunit delta-1; Flags: Precursor;
FUNCTION: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction coupling (By similarity).
SUBUNIT: Dimer formed of alpha-2-1 and delta-1 chains; disulfide- linked. Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1 (CACNA1), alpha-2 (CACNA2D), beta (CACNB) and delta (CACNA2D) subunits in a 1:1:1:1 ratio (By similarity).
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential).
TISSUE SPECIFICITY: Isoform 1 is expressed in skeletal muscle. Isoform 2 is expressed in the central nervous system. Isoform 2, isoform 4 and isoform 5 are expressed in neuroblastoma cells. Isoform 3, isoform 4 and isoform 5 are expressed in the aorta.
DOMAIN: The MIDAS-like motif in the VWFA domain binds divalent metal cations and is required to promote trafficking of the alpha- 1 (CACNA1) subunit to the plasma membrane by an integrin-like switch (By similarity).
PTM: Proteolytically processed into subunits alpha-2-1 and delta-1 that are disulfide-linked (By similarity).
MISCELLANEOUS: Binds gabapentin, an antiepileptic drug.
SIMILARITY: Belongs to the calcium channel subunit alpha-2/delta family.
SIMILARITY: Contains 1 cache domain.
SIMILARITY: Contains 1 VWFA domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CACNA2D1
Diseases sorted by gene-association score: familial short qt syndrome* (175), short qt syndrome (17), timothy syndrome (16), brugada syndrome* (16), malignant hyperthermia (8)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.54 RPKM in Muscle - Skeletal
Total median expression: 217.86 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -162.30318-0.510 Picture PostScript Text
3' UTR -880.603948-0.223 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004010 - Cache_domain
IPR013680 - VDCC_a2/dsu
IPR013608 - VWA_N
IPR002035 - VWF_A

Pfam Domains:
PF00092 - von Willebrand factor type A domain
PF08399 - VWA N-terminal
PF08473 - Neuronal voltage-dependent calcium channel alpha 2acd
PF13519 - von Willebrand factor type A domain
PF13768 - von Willebrand factor type A domain

SCOP Domains:
53300 - vWA-like

ModBase Predicted Comparative 3D Structure on P54289
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005244 voltage-gated ion channel activity
GO:0005245 voltage-gated calcium channel activity
GO:0005262 calcium channel activity
GO:0046872 metal ion binding
GO:0086007 voltage-gated calcium channel activity involved in cardiac muscle cell action potential
GO:0086057 voltage-gated calcium channel activity involved in bundle of His cell action potential

Biological Process:
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0034765 regulation of ion transmembrane transport
GO:0051924 regulation of calcium ion transport
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization
GO:0060402 calcium ion transport into cytosol
GO:0061577 calcium ion transmembrane transport via high voltage-gated calcium channel
GO:0070588 calcium ion transmembrane transport
GO:0086002 cardiac muscle cell action potential involved in contraction
GO:0086048 membrane depolarization during bundle of His cell action potential
GO:0086091 regulation of heart rate by cardiac conduction
GO:0098703 calcium ion import across plasma membrane
GO:0098903 regulation of membrane repolarization during action potential
GO:1901843 positive regulation of high voltage-gated calcium channel activity
GO:1902514 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel
GO:1904646 cellular response to beta-amyloid

Cellular Component:
GO:0005886 plasma membrane
GO:0005891 voltage-gated calcium channel complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016529 sarcoplasmic reticulum
GO:0030315 T-tubule
GO:0070062 extracellular exosome
GO:1990454 L-type voltage-gated calcium channel complex


-  Descriptions from all associated GenBank mRNAs
  M76559 - Human neuronal DHP-sensitive, voltage-dependent, calcium channel alpha-2b subunit mRNA, complete cds.
BC117468 - Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1, mRNA (cDNA clone MGC:151077 IMAGE:40126019), complete cds.
BC117470 - Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1, mRNA (cDNA clone MGC:151079 IMAGE:40126021), complete cds.
BC051339 - Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1, mRNA (cDNA clone IMAGE:6337847).
AK055040 - Homo sapiens cDNA FLJ30478 fis, clone BRAWH1000167.
AL833141 - Homo sapiens mRNA; cDNA DKFZp313C0240 (from clone DKFZp313C0240).
AK092048 - Homo sapiens cDNA FLJ34729 fis, clone MESAN2006401.
AK299838 - Homo sapiens cDNA FLJ50197 complete cds, highly similar to Dihydropyridine-sensitive L-type calcium channel subunits alpha-2/delta precursor.
JD197392 - Sequence 178416 from Patent EP1572962.
JD404472 - Sequence 385496 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P54289 (Reactome details) participates in the following event(s):

R-HSA-5577213 LTCC heteropentamer (open) transports Ca2+ from extracellular region to cytosol
R-HSA-5576892 Phase 0 - rapid depolarisation
R-HSA-5576893 Phase 2 - plateau phase
R-HSA-5576891 Cardiac conduction
R-HSA-397014 Muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: CA2D1_HUMAN, CACNL2A, CCHL2A, ENST00000356860.1, ENST00000356860.2, ENST00000356860.3, ENST00000356860.4, ENST00000356860.5, ENST00000356860.6, ENST00000356860.7, MHS3, NM_000722, P54289, Q17R45, Q9UD80, Q9UD81, Q9UD82, uc317ztn.1, uc317ztn.2
UCSC ID: ENST00000356860.8_8
RefSeq Accession: NM_000722.4
Protein: P54289 (aka CA2D1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CACNA2D1:
brugada (Brugada Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.