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Aliases for CACNA2D2 Gene

Aliases for CACNA2D2 Gene

  • Calcium Channel, Voltage-Dependent, Alpha 2/Delta Subunit 2 2 3
  • Voltage-Gated Calcium Channel Subunit Alpha-2/Delta-2 3 4
  • KIAA0558 4 6
  • Gene 26 2 3
  • Voltage-Dependent Calcium Channel Subunit Alpha-2/Delta-2 3
  • Alpha 2 Delta Calcium Channel Subunit 3
  • CACNA2D 3

External Ids for CACNA2D2 Gene

Summaries for CACNA2D2 Gene

Entrez Gene Summary for CACNA2D2 Gene

  • Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

GeneCards Summary for CACNA2D2 Gene

CACNA2D2 (Calcium Channel, Voltage-Dependent, Alpha 2/Delta Subunit 2) is a Protein Coding gene. Diseases associated with CACNA2D2 include infantile epileptic encephalopathy. 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 CACNA2D2 Gene

  • The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) and possibly T-type (CACNA1G). Overexpression induces apoptosis.

Gene Wiki entry for CACNA2D2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNA2D2 Gene

Genomics for CACNA2D2 Gene

Genomic Location for CACNA2D2 Gene

Start:
50,362,799 bp from pter
End:
50,504,244 bp from pter
Size:
141,446 bases
Orientation:
Minus strand

Genomic View for CACNA2D2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CACNA2D2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNA2D2 Gene

Regulatory Elements for CACNA2D2 Gene

Proteins for CACNA2D2 Gene

  • Protein details for CACNA2D2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NY47-CA2D2_HUMAN
    Recommended name:
    Voltage-dependent calcium channel subunit alpha-2/delta-2
    Protein Accession:
    Q9NY47
    Secondary Accessions:
    • A7MD15
    • Q9NY48
    • Q9UEW0
    • Q9Y268

    Protein attributes for CACNA2D2 Gene

    Size:
    1150 amino acids
    Molecular mass:
    129817 Da
    Quaternary structure:
    • Dimer formed of alpha-2-2 and delta-2 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 CACNA2D2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACNA2D2 Gene

Proteomics data for CACNA2D2 Gene at MOPED

Post-translational modifications for CACNA2D2 Gene

  • May be proteolytically processed into subunits alpha-2-2 and delta-2 that are disulfide-linked. It is however unclear whether such cleavage really takes place in vivo and has a functional role (By similarity).
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn202, Asn386, Asn418, Asn507, Asn540, Asn696, Asn700, Asn786, and Asn861

Other Protein References for CACNA2D2 Gene

No data available for DME Specific Peptides for CACNA2D2 Gene

Domains for CACNA2D2 Gene

Gene Families for CACNA2D2 Gene

HGNC:
  • CACN :Calcium channel subunits

UniProtKB/Swiss-Prot:

CA2D2_HUMAN
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.:
    • Q9NY47
  • Contains 1 cache domain.:
    • Q9NY47
  • Contains 1 VWFA domain.:
    • Q9NY47
Family:
  • Belongs to the calcium channel subunit alpha-2/delta family.:
    • Q9NY47
genes like me logo Genes that share domains with CACNA2D2: view

Function for CACNA2D2 Gene

Molecular function for CACNA2D2 Gene

GENATLAS Biochemistry: voltage-dependent calcium channel (VDCC),alpha 2-delta regulatory subunit,expressed in brain,localized in a critical region for lung cancer
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. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) and possibly T-type (CACNA1G). Overexpression induces apoptosis.

Gene Ontology (GO) - Molecular Function for CACNA2D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005245 voltage-gated calcium channel activity IEA --
GO:0005246 calcium channel regulator activity IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CACNA2D2: view
genes like me logo Genes that share phenotypes with CACNA2D2: view

Animal Models for CACNA2D2 Gene

MGI Knock Outs for CACNA2D2:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CACNA2D2 Gene

Localization for CACNA2D2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNA2D2 Gene

Membrane; Single-pass type I membrane protein. Note=Colocalizes with CACNA1A in lipid raft fractions. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CACNA2D2 Gene COMPARTMENTS Subcellular localization image for CACNA2D2 gene
Compartment Confidence
plasma membrane 4
mitochondrion 2
cytosol 1
endoplasmic reticulum 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CACNA2D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005891 voltage-gated calcium channel complex IBA --
genes like me logo Genes that share ontologies with CACNA2D2: view

Pathways for CACNA2D2 Gene

genes like me logo Genes that share pathways with CACNA2D2: view

Gene Ontology (GO) - Biological Process for CACNA2D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006112 energy reserve metabolic process TAS --
GO:0007528 neuromuscular junction development IEA --
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0040014 regulation of multicellular organism growth IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with CACNA2D2: view

Compounds for CACNA2D2 Gene

(2) HMDB Compounds for CACNA2D2 Gene

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

(6) Drugbank Compounds for CACNA2D2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Amiodarone
  • Amiodarona [INN-Spanish]
1951-25-3 target inhibitor
Bepridil
64706-54-3 target inhibitor
Felodipine
  • Dl-Felodipine
72509-76-3 target inhibitor
Gabapentin
  • Gabapentin GR
60142-96-3 target inhibitor
Isradipine
  • (+/-)-Isradipine
75695-93-1 target inhibitor
genes like me logo Genes that share compounds with CACNA2D2: view

Transcripts for CACNA2D2 Gene

Unigene Clusters for CACNA2D2 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for CACNA2D2 Gene

No ASD Table

Relevant External Links for CACNA2D2 Gene

GeneLoc Exon Structure for
CACNA2D2
ECgene alternative splicing isoforms for
CACNA2D2

Expression for CACNA2D2 Gene

mRNA expression in normal human tissues for CACNA2D2 Gene

mRNA differential expression in normal tissues according to GTEx for CACNA2D2 Gene

This gene is overexpressed in Lung (7.1) and Brain - Cerebellum (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CACNA2D2 Gene

SOURCE GeneReport for Unigene cluster for CACNA2D2 Gene Hs.476273

mRNA Expression by UniProt/SwissProt for CACNA2D2 Gene

Q9NY47-CA2D2_HUMAN
Tissue specificity: Predominantly present in cerebellar cortex. Present in various lung tumor cell lines, while it is absent in normal lung (at protein level). Highly expressed in heart, lung, testis, pancreas and skeletal muscle. Also expressed in kidney, liver, placenta and brain.
genes like me logo Genes that share expressions with CACNA2D2: view

Orthologs for CACNA2D2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA2D2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNA2D2 36
  • 97.25 (n)
  • 96.49 (a)
CACNA2D2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CACNA2D2 36
  • 92.74 (n)
  • 97.86 (a)
CACNA2D2 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNA2D2 36
  • 92.41 (n)
  • 96.52 (a)
CACNA2D2 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cacna2d2 36
  • 91.18 (n)
  • 97.23 (a)
Cacna2d2 16
Cacna2d2 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CACNA2D2 37
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 97 (a)
OneToMany
-- 37
  • 88 (a)
OneToMany
-- 37
  • 72 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cacna2d2 36
  • 91.09 (n)
  • 96.6 (a)
chicken
(Gallus gallus)
Aves CACNA2D2 36
  • 81.67 (n)
  • 84.62 (a)
CACNA2D2 37
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNA2D2 37
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacna2d2 36
  • 73.41 (n)
  • 78.63 (a)
Str.12126 36
zebrafish
(Danio rerio)
Actinopterygii cacna2d2 37
  • 71 (a)
OneToMany
CACNA2D2 (2 of 3) 37
  • 64 (a)
OneToMany
CACNA2D2 (3 of 3) 37
  • 67 (a)
OneToMany
si:ch211-11p18.4 36
  • 67.95 (n)
  • 66.77 (a)
worm
(Caenorhabditis elegans)
Secernentea tag-180 37
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 35 (a)
OneToMany
Species with no ortholog for CACNA2D2:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 CACNA2D2 Gene

ENSEMBL:
Gene Tree for CACNA2D2 (if available)
TreeFam:
Gene Tree for CACNA2D2 (if available)

Paralogs for CACNA2D2 Gene

Paralogs for CACNA2D2 Gene

Selected SIMAP similar genes for CACNA2D2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with CACNA2D2: view

Variants for CACNA2D2 Gene

Sequence variations from dbSNP and Humsavar for CACNA2D2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs733141 -- 50,411,834(-) TCGTT(A/C)TTTCC intron-variant
rs734767 -- 50,393,979(-) AAGCC(C/G)GTGTC intron-variant
rs736471 -- 50,481,961(-) ctgga(A/G)tacag intron-variant
rs736472 -- 50,481,846(-) gataa(G/T)ttttg intron-variant
rs743754 -- 50,418,628(-) GCACA(C/G)TGGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CACNA2D2 Gene

Variant ID Type Subtype PubMed ID
nsv523662 CNV Loss 19592680
nsv876769 CNV Loss 21882294
nsv470561 CNV Loss 18288195
nsv876770 CNV Loss 21882294
nsv460531 CNV Loss 19166990
dgv5131n71 CNV Loss 21882294
dgv5132n71 CNV Loss 21882294
nsv834693 CNV Loss 17160897
esv24464 CNV Gain 19812545
nsv876778 CNV Loss 21882294
esv989401 CNV Deletion 20482838
dgv807n67 CNV Loss 20364138
esv2725258 CNV Deletion 23290073
esv2678946 CNV Deletion 23128226
esv271044 CNV Insertion 20981092
esv998611 CNV Deletion 20482838
nsv460532 CNV Loss 19166990

Relevant External Links for CACNA2D2 Gene

HapMap Linkage Disequilibrium report
CACNA2D2
Human Gene Mutation Database (HGMD)
CACNA2D2

Disorders for CACNA2D2 Gene

genes like me logo Genes that share disorders with CACNA2D2: view

No data available for UniProtKB/Swiss-Prot for CACNA2D2 Gene

Publications for CACNA2D2 Gene

  1. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T. … Ohara O. (DNA Res. 1998) 3 4
  2. Neuronal distribution and functional characterization of the calcium channel alpha2delta-2 subunit. (PMID: 10762351) Hobom M. … Klugbauer N. (Eur. J. Neurosci. 2000) 3 4
  3. Functional properties of a new voltage-dependent calcium channel alpha(2)delta auxiliary subunit gene (CACNA2D2). (PMID: 10766861) Gao B. … Minna J.D. (J. Biol. Chem. 2000) 3 4
  4. CACNA2D2-mediated apoptosis in NSCLC cells is associated with alterations of the intracellular calcium signaling and disruption of mitochondria membrane integrity. (PMID: 12555074) Carboni G.L. … Ji L. (Oncogene 2003) 3 4
  5. Modulation of gating currents of the Ca(v)3.1 calcium channel by alpha 2 delta 2 and gamma 5 subunits. (PMID: 15111129) Lacinova L. … Klugbauer N. (Arch. Biochem. Biophys. 2004) 3 4

Products for CACNA2D2 Gene

Sources for CACNA2D2 Gene

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