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Aliases for CACNA2D1 Gene

Aliases for CACNA2D1 Gene

  • Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 1 2 3
  • Calcium Channel, Voltage-Dependent, Alpha 2/Delta Subunit 1 2 3 5
  • Voltage-Gated Calcium Channel Subunit Alpha-2/Delta-1 3 4
  • CACNL2A 3 4
  • CCHL2A 3 4
  • Dihydropyridine-Sensitive L-Type, Calcium Channel Alpha-2/Delta Subunit 3
  • Calcium Channel, L Type, Alpha 2 Polypeptide 3
  • Long Intergenic Non-Protein Coding RNA 1112 2
  • LncRNA-N3 3
  • LINC01112 3
  • CACNA2 3
  • MHS3 4

External Ids for CACNA2D1 Gene

Previous HGNC Symbols for CACNA2D1 Gene

  • CACNL2A
  • CACNA2
  • MHS3
  • LINC01112

Previous GeneCards Identifiers for CACNA2D1 Gene

  • GC07M080114
  • GC07M081177
  • GC07M081191
  • GC07M081224
  • GC07M081417
  • GC07M081575
  • GC07M076182

Summaries for CACNA2D1 Gene

Entrez Gene Summary for CACNA2D1 Gene

  • The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion. [provided by RefSeq, Nov 2014]

GeneCards Summary for CACNA2D1 Gene

CACNA2D1 (Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 1) is a Protein Coding gene. Diseases associated with CACNA2D1 include Short Qt Syndrome and Brugada Syndrome. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and G-Beta Gamma Signaling. GO annotations related to this gene include voltage-gated calcium channel activity and calcium channel regulator activity. An important paralog of this gene is CACHD1.

UniProtKB/Swiss-Prot for CACNA2D1 Gene

  • 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).

Gene Wiki entry for CACNA2D1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNA2D1 Gene

Genomics for CACNA2D1 Gene

Regulatory Elements for CACNA2D1 Gene

Enhancers for CACNA2D1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CACNA2D1 on UCSC Golden Path with GeneCards custom track

Promoters for CACNA2D1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CACNA2D1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CACNA2D1 Gene

Chromosome:
7
Start:
81,946,444 bp from pter
End:
82,443,806 bp from pter
Size:
497,363 bases
Orientation:
Minus strand

Genomic View for CACNA2D1 Gene

Genes around CACNA2D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNA2D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNA2D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNA2D1 Gene

Proteins for CACNA2D1 Gene

  • Protein details for CACNA2D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54289-CA2D1_HUMAN
    Recommended name:
    Voltage-dependent calcium channel subunit alpha-2/delta-1
    Protein Accession:
    P54289
    Secondary Accessions:
    • Q17R45
    • Q9UD80
    • Q9UD81
    • Q9UD82

    Protein attributes for CACNA2D1 Gene

    Size:
    1103 amino acids
    Molecular mass:
    124568 Da
    Quaternary structure:
    • 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).
    Miscellaneous:
    • Binds gabapentin, an antiepileptic drug.

    Alternative splice isoforms for CACNA2D1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACNA2D1 Gene

Proteomics data for CACNA2D1 Gene at MOPED

Post-translational modifications for CACNA2D1 Gene

  • Proteolytically processed into subunits alpha-2-1 and delta-1 that are disulfide-linked.
  • Glycosylation at Asn 92, Asn 136, Asn 184, Asn 324, Asn 348, Asn 468, Asn 475, Asn 604, Asn 613, Asn 675, Asn 781, Asn 824, Asn 888, Asn 895, Asn 985, and Asn 998
  • Modification sites at PhosphoSitePlus

Other Protein References for CACNA2D1 Gene

Antibody Products

No data available for DME Specific Peptides for CACNA2D1 Gene

Domains & Families for CACNA2D1 Gene

Gene Families for CACNA2D1 Gene

Graphical View of Domain Structure for InterPro Entry

P54289

UniProtKB/Swiss-Prot:

CA2D1_HUMAN :
  • 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.
  • Belongs to the calcium channel subunit alpha-2/delta family.
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.
  • Contains 1 cache domain.
  • Contains 1 VWFA domain.
Family:
  • Belongs to the calcium channel subunit alpha-2/delta family.
genes like me logo Genes that share domains with CACNA2D1: view

Function for CACNA2D1 Gene

Molecular function for CACNA2D1 Gene

GENATLAS Biochemistry:
transverse tubule (TT) calcium voltage-gated channel (VDCC),L (long lasting) type,dihydropyridine (DHP) sensitive,alpha 2-delta regulatory subunit,(140+25kDa),skeletal muscle
UniProtKB/Swiss-Prot 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).
genes like me logo Genes that share phenotypes with CACNA2D1: view

Human Phenotype Ontology for CACNA2D1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CACNA2D1 Gene

MGI Knock Outs for CACNA2D1:

Animal Model Products

  • Taconic Biosciences Mouse Models for CACNA2D1

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for CACNA2D1 Gene

Localization for CACNA2D1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNA2D1 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CACNA2D1 Gene COMPARTMENTS Subcellular localization image for CACNA2D1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
endoplasmic reticulum 3
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CACNA2D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with CACNA2D1: view

Pathways & Interactions for CACNA2D1 Gene

genes like me logo Genes that share pathways with CACNA2D1: view

Interacting Proteins for CACNA2D1 Gene

Gene Ontology (GO) - Biological Process for CACNA2D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006816 calcium ion transport IDA 1309651
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0051924 regulation of calcium ion transport IDA 1309651
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization IMP 25527503
GO:0061337 cardiac conduction TAS --
genes like me logo Genes that share ontologies with CACNA2D1: view

No data available for SIGNOR curated interactions for CACNA2D1 Gene

Drugs & Compounds for CACNA2D1 Gene

(16) Drugs for CACNA2D1 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Felodipine Approved, Investigational Pharma Potentiation, Activator, blocker, Target, inhibitor 22
Gabapentin Approved, Investigational Pharma antagonist, Target, inhibitor GABA enhancer 272
Ibutilide Approved Pharma activator, Target 5
Isradipine Approved Pharma Gating inhibitor, blocker, Target, inhibitor 12
Nifedipine Approved Pharma Antagonist, Gating inhibitor, blocker, Target, inhibitor 106
genes like me logo Genes that share compounds with CACNA2D1: view

Transcripts for CACNA2D1 Gene

Unigene Clusters for CACNA2D1 Gene

Calcium channel, voltage-dependent, alpha 2/delta subunit 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CACNA2D1 Gene

No ASD Table

Relevant External Links for CACNA2D1 Gene

GeneLoc Exon Structure for
CACNA2D1
ECgene alternative splicing isoforms for
CACNA2D1

Expression for CACNA2D1 Gene

mRNA expression in normal human tissues for CACNA2D1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNA2D1 Gene

This gene is overexpressed in Muscle - Skeletal (x7.5).

Protein differential expression in normal tissues from HIPED for CACNA2D1 Gene

This gene is overexpressed in Fetal Brain (10.7), Cerebrospinal fluid (7.2), Serum (7.1), Frontal cortex (7.0), and Brain (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CACNA2D1 Gene



SOURCE GeneReport for Unigene cluster for CACNA2D1 Gene Hs.282151

mRNA Expression by UniProt/SwissProt for CACNA2D1 Gene

P54289-CA2D1_HUMAN
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.
genes like me logo Genes that share expression patterns with CACNA2D1: view

Protein tissue co-expression partners for CACNA2D1 Gene

Primer Products

Orthologs for CACNA2D1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA2D1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CACNA2D1 35
  • 93.74 (n)
  • 98.08 (a)
CACNA2D1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNA2D1 35
  • 92.81 (n)
  • 98.19 (a)
CACNA2D1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cacna2d1 35
  • 90.04 (n)
  • 96.52 (a)
Cacna2d1 16
Cacna2d1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CACNA2D1 35
  • 99.76 (n)
  • 99.82 (a)
CACNA2D1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacna2d1 35
  • 89.6 (n)
  • 96.33 (a)
oppossum
(Monodelphis domestica)
Mammalia CACNA2D1 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNA2D1 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves CACNA2D1 35
  • 78.12 (n)
  • 80.93 (a)
CACNA2D1 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNA2D1 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacna2d1 35
  • 74.2 (n)
  • 78.43 (a)
zebrafish
(Danio rerio)
Actinopterygii cacna2d1a 35
  • 64.41 (n)
  • 65.46 (a)
CACNA2D1 (2 of 3) 36
  • 60 (a)
OneToMany
CACNA2D1 (3 of 3) 36
  • 70 (a)
OneToMany
cacna2d1a 36
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta BG:DS07108.2 37
  • 27 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-36 37
  • 23 (a)
tag-180 36
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToMany
Species with no ortholog for CACNA2D1:
  • 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)
  • 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 (Oryza sativa)
  • 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)

Evolution for CACNA2D1 Gene

ENSEMBL:
Gene Tree for CACNA2D1 (if available)
TreeFam:
Gene Tree for CACNA2D1 (if available)

Paralogs for CACNA2D1 Gene

Paralogs for CACNA2D1 Gene

(4) SIMAP similar genes for CACNA2D1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with CACNA2D1: view

Variants for CACNA2D1 Gene

Sequence variations from dbSNP and Humsavar for CACNA2D1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs35131433 - 81,959,300(-) GCCTG(A/C)TGTCT reference, missense
rs9886043 - 81,959,775(+) TTGCT(C/G/T)TCAAC reference, missense
rs766006 -- 82,240,619(+) ATCAA(C/T)TAATT intron-variant
rs879660 -- 82,037,801(-) AGCAC(G/T)TGAAA intron-variant
rs917186 -- 82,438,572(+) GCACA(C/T)ACAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CACNA2D1 Gene

Variant ID Type Subtype PubMed ID
esv2214231 CNV Deletion 18987734
nsv510094 CNV Loss 20534489
esv29327 CNV Gain 19812545
nsv888564 CNV Loss 21882294
dgv7355n71 CNV Loss 21882294
nsv888566 CNV Loss 21882294
esv4702 CNV Deletion 18987735
esv2734746 CNV Deletion 23290073
esv2674222 CNV Deletion 23128226
esv1009997 CNV Deletion 20482838
esv1301171 CNV Deletion 17803354
nsv818528 CNV Loss 17921354
nsv888568 CNV Loss 21882294
nsv5815 CNV Insertion 18451855
nsv888569 CNV Loss 21882294
nsv888570 CNV Loss 21882294
esv2655042 CNV Insertion 19546169
dgv7356n71 CNV Loss 21882294
dgv7357n71 CNV Loss 21882294
dgv7358n71 CNV Loss 21882294
nsv888576 CNV Loss 21882294
esv2672825 CNV Deletion 23128226
dgv7359n71 CNV Loss 21882294
dgv7360n71 CNV Loss 21882294
nsv464610 CNV Loss 19166990
esv28876 CNV Loss 19812545
esv2734747 CNV Deletion 23290073
nsv888584 CNV Loss 21882294
nsv518794 CNV Gain 19592680
nsv522458 CNV Gain 19592680
nsv888585 CNV Loss 21882294
nsv888586 CNV Loss 21882294
nsv523665 CNV Loss 19592680
nsv5816 CNV Loss 18451855
esv2657789 CNV Deletion 23128226
nsv818529 CNV Loss 17921354
nsv464611 CNV Loss 19166990
esv1010444 CNV Gain 20482838
nsv824184 CNV Loss 20364138
esv2734748 CNV Deletion 23290073
esv2676782 CNV Deletion 23128226
nsv464612 CNV Loss 19166990
esv2752186 CNV Gain 17911159
esv270650 CNV Insertion 20981092
nsv524315 CNV Gain 19592680

Variation tolerance for CACNA2D1 Gene

Residual Variation Intolerance Score: 12.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.55; 44.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CACNA2D1 Gene

Human Gene Mutation Database (HGMD)
CACNA2D1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA2D1 Gene

Disorders for CACNA2D1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CACNA2D1 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
short qt syndrome
  • sqts
brugada syndrome
  • sudden unexpected nocturnal death syndrome
timothy syndrome
  • long qt syndrome with syndactyly
familial short qt syndrome
  • sqts
malignant hyperthermia
  • anesthesia related hyperthermia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CACNA2D1

Genetic Association Database (GAD)
CACNA2D1
Human Genome Epidemiology (HuGE) Navigator
CACNA2D1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CACNA2D1
genes like me logo Genes that share disorders with CACNA2D1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CACNA2D1 Gene

Publications for CACNA2D1 Gene

  1. Identification of a disulfide bridge essential for structure and function of the voltage-gated Ca(2+) channel alpha(2)delta-1 auxiliary subunit. (PMID: 22054663) Calderon-Rivera A. … Felix R. (Cell Calcium 2012) 3 4 67
  2. Use of calcium channel blockers for glaucoma. (PMID: 20933604) Araie M. … Mayama C. (Prog Retin Eye Res 2011) 25 26
  3. Competitive and cooperative effects of Bay K8644 on the L-type calcium channel current inhibition by calcium channel antagonists. (PMID: 17475903) ZahradnA-kovA! A. … ZahradnA-k I. (J. Pharmacol. Exp. Ther. 2007) 25 26
  4. Ion channels in mesenchymal stem cells from rat bone marrow. (PMID: 16484345) Li G.R. … Lau C.P. (Stem Cells 2006) 25 26
  5. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26

Products for CACNA2D1 Gene

Sources for CACNA2D1 Gene

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