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Aliases for CACNA2D1 Gene

Aliases for CACNA2D1 Gene

  • Calcium Channel, Voltage-Dependent, Alpha 2/Delta Subunit 1 2 3
  • CACNL2A 3 4 6
  • Voltage-Gated Calcium Channel Subunit Alpha-2/Delta-1 3 4
  • CACNA2 3 6
  • CCHL2A 3 4
  • Dihydropyridine-Sensitive L-Type, Calcium Channel Alpha-2/Delta Subunit 3
  • Voltage-Dependent Calcium Channel Subunit Alpha-2/Delta-1 3
  • Calcium Channel, L Type, Alpha 2 Polypeptide 3
  • Long Intergenic Non-Protein Coding RNA 1112 2
  • LncRNA-N3 3
  • LINC01112 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 Channel, Voltage-Dependent, Alpha 2/Delta Subunit 1) is a Protein Coding gene. Diseases associated with CACNA2D1 include familial short qt syndrome and short qt syndrome. Among its related pathways are MAPK signaling pathway and ERK Signaling. GO annotations related to this gene include voltage-gated calcium channel activity. An important paralog of this gene is CACNA2D4.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CACNA2D1 Gene

Start:
81,946,444 bp from pter
End:
82,443,798 bp from pter
Size:
497,355 bases
Orientation:
Minus strand

Genomic View for CACNA2D1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Asn92, Asn136, Asn184, Asn324, Asn348, Asn468, Asn475, Asn604, Asn613, Asn675, Asn781, Asn824, Asn888, Asn895, Asn985, and Asn998
  • Modification sites at PhosphoSitePlus

Other Protein References for CACNA2D1 Gene

Antibody Products

No data available for DME Specific Peptides for CACNA2D1 Gene

Domains for CACNA2D1 Gene

Gene Families for CACNA2D1 Gene

HGNC:
  • CACN :Calcium channel subunits

Graphical View of Domain Structure for InterPro Entry

P54289

UniProtKB/Swiss-Prot:

CA2D1_HUMAN :
  • P54289
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).

Gene Ontology (GO) - Molecular Function for CACNA2D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005245 contributes_to voltage-gated calcium channel activity IDA 11160515
GO:0005246 calcium channel regulator activity IBA --
GO:0005515 protein binding --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CACNA2D1: view
genes like me logo Genes that share phenotypes with CACNA2D1: view

Animal Models for CACNA2D1 Gene

MGI Knock Outs for CACNA2D1:

Animal Model Products

CRISPR Products

miRNA for CACNA2D1 Gene

miRTarBase miRNAs that target CACNA2D1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
plasma membrane 5
endoplasmic reticulum 2
cytoskeleton 1
cytosol 1
extracellular 1

Gene Ontology (GO) - Cellular Components for CACNA2D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005891 voltage-gated calcium channel complex IDA 11160515
GO:0016529 sarcoplasmic reticulum IEA --
GO:0030315 T-tubule IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with CACNA2D1: view

Pathways 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 11160515
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0051924 regulation of calcium ion transport IDA 1309651
GO:0070588 calcium ion transmembrane transport IBA --
genes like me logo Genes that share ontologies with CACNA2D1: view

Compounds for CACNA2D1 Gene

(2) HMDB Compounds for CACNA2D1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Gabapentin
  • 1-(Aminomethyl)cyclohexaneacetic acid
60142-96-3

(12) Drugbank Compounds for CACNA2D1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Amlodipine
  • Amlodipine Benzenesulfonate
88150-42-9 target inhibitor
Cyclandelate
  • 3,3,5-Trimethylcyclohexyl mandelate
456-59-7 target inhibitor
Felodipine
  • Dl-Felodipine
72509-76-3 target inhibitor
Gabapentin
  • Gabapentin GR
60142-96-3 target inhibitor
Ibutilide
  • Ibutilida [INN-Spanish]
122647-32-9 target activator

(1) Novoseek inferred chemical compound relationships for CACNA2D1 Gene

Compound -log(P) Hits PubMed IDs
calcium 37 6
genes like me logo Genes that share compounds with CACNA2D1: view

Transcripts for CACNA2D1 Gene

mRNA/cDNA for CACNA2D1 Gene

Unigene Clusters for CACNA2D1 Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CACNA2D1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CACNA2D1

Flow Cytometry Products

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 (7.5).

Integrated Proteomics: protein expression 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 expressions with CACNA2D1: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia CACNA2D1 35
  • 99.76 (n)
  • 99.82 (a)
CACNA2D1 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia CACNA2D1 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNA2D1 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacna2d1 35
  • 89.6 (n)
  • 96.33 (a)
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 CACNA2D1 (2 of 3) 36
  • 60 (a)
OneToMany
CACNA2D1 (3 of 3) 36
  • 70 (a)
OneToMany
cacna2d1a 35
  • 64.41 (n)
  • 65.46 (a)
cacna2d1a 36
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta BG:DS07108.2 37
  • 27 (a)
worm
(Caenorhabditis elegans)
Secernentea tag-180 36
  • 21 (a)
OneToMany
unc-36 37
  • 23 (a)
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

Selected 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 MAF
rs37066 -- 81,970,103(+) GAAGT(G/T)AGTGG intron-variant
rs37067 -- 81,970,881(+) TTTAA(A/G)TATCT intron-variant
rs37068 -- 81,971,126(+) AAGTT(C/T)CTCAA intron-variant
rs37069 -- 81,971,182(+) CCTGT(A/T)TCTTG intron-variant
rs37070 -- 81,971,231(+) TATGA(A/G)TTGTA 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

Relevant External Links for CACNA2D1 Gene

HapMap Linkage Disequilibrium report
CACNA2D1
Human Gene Mutation Database (HGMD)
CACNA2D1

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

Disorders for CACNA2D1 Gene

(2) University of Copenhagen DISEASES for CACNA2D1 Gene

Relevant External Links for CACNA2D1

Genetic Association Database (GAD)
CACNA2D1
Human Genome Epidemiology (HuGE) Navigator
CACNA2D1
genes like me logo Genes that share disorders with CACNA2D1: view

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

Publications for CACNA2D1 Gene

  1. Human neuronal voltage-dependent calcium channels: studies on subunit structure and role in channel assembly. (PMID: 8107964) Brust P.F. … Ellis S.B. (Neuropharmacology 1993) 3 4
  2. Localization of the gene encoding the alpha 2/delta subunit (CACNL2A) of the human skeletal muscle voltage-dependent Ca2+ channel to chromosome 7q21-q22 by somatic cell hybrid analysis. (PMID: 8188232) Powers P.A. … Hogan K. (Genomics 1994) 2 3
  3. Genomic structure and functional expression of a human alpha(2)/delta calcium channel subunit gene (CACNA2). (PMID: 10534405) Schleithoff L. … Lehmann-Horn F. (Genomics 1999) 3 23
  4. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PMID: 16335952) Liu T. … Smith R.D. (J. Proteome Res. 2005) 3 4
  5. 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

Products for CACNA2D1 Gene

  • antibodies-online peptides for CACNA2D1
  • antibodies-online antibodies for CACNA2D1
  • antibodies-online kits for CACNA2D1

Sources for CACNA2D1 Gene

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