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 localizatio... See more...

Aliases for CACNA2D2 Gene

Aliases for CACNA2D2 Gene

  • Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 2 2 3 5
  • Calcium Channel, Voltage-Dependent, Alpha 2/Delta Subunit 2 2 3
  • Voltage-Dependent Calcium Channel Subunit Alpha-2/Delta-2 3 4
  • Voltage-Gated Calcium Channel Subunit Alpha-2/Delta-2 3 4
  • KIAA0558 2 4
  • Gene 26 2 3
  • Alpha 2 Delta Calcium Channel Subunit 3
  • CACNA2D2 5
  • CACNA2D 3
  • CASVDD 3

External Ids for CACNA2D2 Gene

Previous GeneCards Identifiers for CACNA2D2 Gene

  • GC03P049446
  • GC03P049615
  • GC03M050254
  • GC03M050359
  • GC03M050375
  • GC03M050400
  • GC03M050363
  • GC03M050364

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 Voltage-Gated Channel Auxiliary Subunit Alpha2delta 2) is a Protein Coding gene. Diseases associated with CACNA2D2 include Cerebellar Atrophy With Seizures And Variable Developmental Delay and Early Infantile Epileptic Encephalopathy. Among its related pathways are Integrin Pathway and Integration of energy metabolism. Gene Ontology (GO) annotations related to this gene include voltage-gated calcium channel activity and calcium channel regulator activity. An important paralog of this gene is CACNA2D1.

UniProtKB/Swiss-Prot Summary 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) (PubMed:15111129, PubMed:23339110). Overexpression induces apoptosis.

Gene Wiki entry for CACNA2D2 Gene

Additional gene information for CACNA2D2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CACNA2D2 Gene

Genomics for CACNA2D2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CACNA2D2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J050503 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.9 943 1.8 CTCF POLR2A ZFX SCRT2 KLF9 ZBTB20 SP2 RAD21 USF1 ZBTB26 CACNA2D2 HEMK1 ENSG00000230454 lnc-CYB561D2-6 TMEM115
GH03J050538 Enhancer 1 Ensembl CraniofacialAtlas 12.3 -35.5 -35457 2.2 IKZF1 JUND MTA2 MTA1 REST DPF2 HDAC1 SOX6 ZNF341 TCF12 LOC105377083 CACNA2D2 MAPKAPK3 CISH HEMK1 piR-50437-473
GH03J051383 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.5 -884.3 -884257 10.6 SP1 HNRNPL CREB1 GATAD2A CTCF PRDM10 ZNF629 TFE3 SIX5 ZNF692 MANF piR-35798 piR-37011 RRP9 DCAF1 RAD54L2 TEX264 GRM2 CACNA2D2 GPR62
GH03J050472 Enhancer 0.8 FANTOM5 Ensembl ENCODE 12.4 +30.5 30544 3 SP1 ZNF600 RXRA MAFK CACNA2D2 CYB561D2 RASSF1 lnc-CYB561D2-6 TMEM115
GH03J050536 Enhancer 0.6 Ensembl 12.3 -33.2 -33178 1.2 IKZF1 MNT EGR1 CREB1 ZKSCAN1 ZFHX2 BCOR GLI4 ATF3 PRDM10 CACNA2D2 MAPKAPK3 CISH DOCK3 HEMK1 LOC105377083 piR-40163-068
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CACNA2D2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CACNA2D2

Top Transcription factor binding sites by QIAGEN in the CACNA2D2 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • LCR-F1
  • RFX1
  • USF-1
  • USF1

Genomic Locations for CACNA2D2 Gene

Genomic Locations for CACNA2D2 Gene
chr3:50,362,613-50,504,244
(GRCh38/hg38)
Size:
141,632 bases
Orientation:
Minus strand
chr3:50,400,230-50,541,675
(GRCh37/hg19)
Size:
141,446 bases
Orientation:
Minus strand

Genomic View for CACNA2D2 Gene

Genes around CACNA2D2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNA2D2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNA2D2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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).
  • Glycosylation at Asn202, Asn386, Asn418, Asn507, Asn540, Asn624, Asn696, Asn700, Asn786, and Asn861
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CACNA2D2 Gene

Domains & Families for CACNA2D2 Gene

Gene Families for CACNA2D2 Gene

HGNC:
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for CACNA2D2 Gene

InterPro:
Blocks:
  • Von Willebrand factor type A domain signature
  • Cache domain
  • VWA N-terminal
  • Voltage-dependent calcium channel, alpha 2acd, neuronal
ProtoNet:

Suggested Antigen Peptide Sequences for CACNA2D2 Gene

GenScript: Design optimal peptide antigens:
  • Voltage-gated calcium channel subunit alpha-2/delta-2 (CA2D2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NY47

UniProtKB/Swiss-Prot:

CA2D2_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.
Family:
  • Belongs to the calcium channel subunit alpha-2/delta family.
genes like me logo Genes that share domains with CACNA2D2: view

Function for CACNA2D2 Gene

Molecular function for CACNA2D2 Gene

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) (PubMed:15111129, PubMed:23339110). Overexpression induces apoptosis.
GENATLAS Biochemistry:
voltage-dependent calcium channel (VDCC),alpha 2-delta regulatory subunit,expressed in brain,localized in a critical region for lung cancer

Phenotypes From GWAS Catalog for CACNA2D2 Gene

Gene Ontology (GO) - Molecular Function for CACNA2D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity IEA,IBA 21873635
GO:0005262 calcium channel activity IEA --
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

Human Phenotype Ontology for CACNA2D2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CACNA2D2 Gene

MGI Knock Outs for CACNA2D2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNA2D2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CACNA2D2 gene
Compartment Confidence
plasma membrane 4
mitochondrion 2
nucleus 2
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 IEA,IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CACNA2D2: view

Pathways & Interactions for CACNA2D2 Gene

PathCards logo

SuperPathways for CACNA2D2 Gene

SuperPathway Contained pathways
1 nNOS Signaling in Skeletal Muscle
.44
.44
.37
.36
.31
2 TCR Signaling (Qiagen)
.68
.68
.54
.49
.39
3 Activation of cAMP-Dependent PKA
.77
.77
.56
4 CCR5 Pathway in Macrophages
.52
.52
.33
5 Sweet Taste Signaling
.72
.72
.46
genes like me logo Genes that share pathways with CACNA2D2: view

Pathways by source for CACNA2D2 Gene

1 GeneGo (Thomson Reuters) pathway for CACNA2D2 Gene
  • Transcription CREB pathway
37 Qiagen pathways for CACNA2D2 Gene
  • Activation of cAMP-Dependent PKA
  • all-trans-Retinoic Acid Signaling in Brain
  • Androgen Signaling
  • BMP Pathway
  • Calpain Protease Regulates Cellular Mechanics

Gene Ontology (GO) - Biological Process for CACNA2D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0007528 neuromuscular junction development IEA --
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0040014 regulation of multicellular organism growth IEA --
genes like me logo Genes that share ontologies with CACNA2D2: view

No data available for SIGNOR curated interactions for CACNA2D2 Gene

Drugs & Compounds for CACNA2D2 Gene

(15) Drugs for CACNA2D2 Gene - From: DrugBank, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gabapentin Approved, Investigational Pharma Target, inhibitor, antagonist GABA enhancer 407
Bepridil Approved, Withdrawn Pharma Pore Blocker, Target, inhibitor 0
Felodipine Approved, Investigational Pharma Activator, Potentiation, Target, inhibitor 23
Isradipine Approved, Investigational Pharma Gating inhibitor, Target, inhibitor 14
Nitrendipine Approved, Investigational Pharma Pore Blocker, Inhibition, Target, inhibitor Calcium channel blocker, Ca2+ channel blocker (L-type) 8
genes like me logo Genes that share compounds with CACNA2D2: view

Transcripts for CACNA2D2 Gene

mRNA/cDNA for CACNA2D2 Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNA2D2

Clone Products

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

No ASD Table

Relevant External Links for CACNA2D2 Gene

GeneLoc Exon Structure for
CACNA2D2

Expression for CACNA2D2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CACNA2D2 Gene

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

This gene is overexpressed in Lung (x7.1) and Brain - Cerebellum (x4.3).

Protein differential expression in normal tissues from HIPED for CACNA2D2 Gene

This gene is overexpressed in Uterus (33.3) and Fetal Brain (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CACNA2D2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CACNA2D2

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.

Evidence on tissue expression from TISSUES for CACNA2D2 Gene

  • Nervous system(4.6)
  • Thyroid gland(4.1)
  • Heart(2.3)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with CACNA2D2: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNA2D2 Gene

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 30 31
  • 97.25 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 97 (a)
OneToMany
-- 31
  • 88 (a)
OneToMany
-- 31
  • 72 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia CACNA2D2 30 31
  • 92.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CACNA2D2 30 31
  • 92.41 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cacna2d2 30 17 31
  • 91.18 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cacna2d2 30
  • 91.09 (n)
Oppossum
(Monodelphis domestica)
Mammalia CACNA2D2 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CACNA2D2 30 31
  • 81.67 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CACNA2D2 31
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cacna2d2 30
  • 73.41 (n)
Str.12126 30
Zebrafish
(Danio rerio)
Actinopterygii cacna2d2 31
  • 71 (a)
OneToMany
si:ch211-11p18.4 30
  • 67.95 (n)
CACNA2D2 (3 of 3) 31
  • 67 (a)
OneToMany
CACNA2D2 (2 of 3) 31
  • 64 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea tag-180 31
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 35 (a)
OneToMany
Species where no ortholog for CACNA2D2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CACNA2D2: view image

Paralogs for CACNA2D2 Gene

Paralogs for CACNA2D2 Gene

(4) SIMAP similar genes for CACNA2D2 Gene using alignment to 6 proteins:

  • CA2D2_HUMAN
  • C9JE82_HUMAN
  • C9JGM2_HUMAN
  • C9JHE6_HUMAN
  • C9JVC9_HUMAN
  • L0R6E1_HUMAN
genes like me logo Genes that share paralogs with CACNA2D2: view

Variants for CACNA2D2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CACNA2D2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
637020 Pathogenic: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY 50,365,146(-) A/G MISSENSE_VARIANT
637021 Pathogenic: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY 50,365,633(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
639305 Uncertain Significance: Early infantile epileptic encephalopathy 50,387,576(-) C/T MISSENSE_VARIANT
639351 Uncertain Significance: Early infantile epileptic encephalopathy 50,375,873(-) C/T MISSENSE_VARIANT
641731 Uncertain Significance: Early infantile epileptic encephalopathy 50,381,101(-) G/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CACNA2D2 Gene

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

Variant ID Type Subtype PubMed ID
dgv807n67 CNV loss 20364138
dgv8317n54 CNV loss 21841781
dgv8318n54 CNV gain 21841781
dgv8319n54 CNV loss 21841781
dgv8320n54 CNV gain+loss 21841781
esv24464 CNV gain 19812545
esv2678946 CNV deletion 23128226
esv2725258 CNV deletion 23290073
esv3329056 CNV insertion 20981092
esv3584502 CNV gain 24956385
esv3596144 CNV loss 21293372
esv3596145 CNV loss 21293372
esv989401 CNV deletion 20482838
esv998611 CNV deletion 20482838
nsv1072258 CNV deletion 25765185
nsv1072688 CNV deletion 25765185
nsv1072689 CNV deletion 25765185
nsv1112828 CNV deletion 24896259
nsv1133556 CNV deletion 24896259
nsv460531 CNV loss 19166990
nsv460532 CNV loss 19166990
nsv470561 CNV loss 18288195
nsv523662 CNV loss 19592680
nsv590255 CNV loss 21841781
nsv590259 CNV gain 21841781
nsv590260 CNV loss 21841781
nsv590269 CNV gain+loss 21841781
nsv590270 CNV loss 21841781
nsv590271 CNV loss 21841781
nsv590272 CNV loss 21841781
nsv834693 CNV loss 17160897
nsv954855 CNV deletion 24416366
nsv979830 CNV duplication 23825009

Variation tolerance for CACNA2D2 Gene

Residual Variation Intolerance Score: 4.98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.93; 67.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CACNA2D2 Gene

Human Gene Mutation Database (HGMD)
CACNA2D2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNA2D2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA2D2 Gene

Disorders for CACNA2D2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for CACNA2D2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cerebellar atrophy with seizures and variable developmental delay
  • casvdd
early infantile epileptic encephalopathy
  • early infantile epileptic encephalopathy with burst-suppression
encephalopathy
  • brain diseases
brugada syndrome 4
  • brgda4
childhood absence epilepsy
  • absence seizure
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CA2D2_HUMAN
  • Cerebellar atrophy with seizures and variable developmental delay (CASVDD) [MIM:618501]: An autosomal recessive neurologic disorder characterized by cerebellar ataxia, atrophy of the cerebellar vermis, severe refractory seizures with early onset, and global developmental delay compatible with epileptic encephalopathy in most patients. Disease severity is variable and normal cognitive development has also been reported. {ECO:0000269 PubMed:23339110, ECO:0000269 PubMed:24358150, ECO:0000269 PubMed:29997391, ECO:0000269 PubMed:30410802}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with CACNA2D2: view

No data available for Genatlas for CACNA2D2 Gene

Publications for CACNA2D2 Gene

  1. Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. (PMID: 23339110) Edvardson S … Elpeleg O (Journal of medical genetics 2013) 3 4
  2. A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. (PMID: 24358150) Pippucci T … Carelli V (PloS one 2013) 3 4
  3. Modulation of gating currents of the Ca(v)3.1 calcium channel by alpha 2 delta 2 and gamma 5 subunits. (PMID: 15111129) Lacinová L … Klugbauer N (Archives of biochemistry and biophysics 2004) 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 GL … Ji L (Oncogene 2003) 3 4
  5. Identification of a single nucleotide polymorphism in the human alpha 2 delta 2 calcium channel subunit gene. (PMID: 11851383) Honorio S … Latif F (Molecular and cellular probes 2001) 3 23

Products for CACNA2D2 Gene

Sources for CACNA2D2 Gene