Property Summary

NCBI Gene PubMed Count 23
PubMed Score 12.41
PubTator Score 14.36

Knowledge Summary

Patent (1,727)

Expression

  Differential Expression (18)

Disease log2 FC p
Rheumatoid Arthritis -1.100 2.6e-02
astrocytic glioma -2.600 2.0e-03
ependymoma -2.800 2.2e-03
oligodendroglioma -2.200 1.2e-02
glioblastoma -3.700 7.2e-06
osteosarcoma -2.570 3.4e-08
medulloblastoma -2.700 1.8e-03
atypical teratoid / rhabdoid tumor -2.900 1.3e-03
medulloblastoma, large-cell -3.800 1.2e-04
tuberculosis and treatment for 3 months 2.800 1.0e-05
lung adenocarcinoma -1.200 9.1e-17
pediatric high grade glioma -3.100 1.5e-06
pilocytic astrocytoma -2.800 3.3e-07
Alzheimer's disease -1.300 4.3e-02
Pick disease -2.100 5.6e-04
ovarian cancer -1.300 1.3e-03
pituitary cancer 1.700 2.2e-02
psoriasis 1.200 2.8e-56

Protein-protein Interaction (8)

Gene RIF (13)

PMID Text
26460247 The risk of developing anaemia is increased in reproductive age women carriers of A allele of rs1868505 (CACNA2D3) and/or T allele of rs13194491 (HIST1H2BJ).
23649311 CACNA2D3-mediated increase in intracellular calcium (Ca2+) can induce mitochondrial-mediated apoptosis.
23560067 CACNA2D3 is a novel tumor suppressor gene responsible for the 3p21 deletion event that plays a critical suppressing role in the development and progression of esophageal squamous cell carcinoma.
23324578 CACNA2D3 polymorphism rs1375515 plays important role in iron status and is associated with the levels of iron-related biomarkers, as well as with iron clinical phenotypes (normal, iron de fi cient and anaemic).
22644305 Expression of CACNA2D3 mRNA is regulated in breast cancer cell lines by methylation in the CpG island located in the 5' regulatory region of the gene.
22395973 High CACNA2D3 gene expression is assiciated with glioblastoma multiforme.
21074052 In humans, study found single-nucleotide polymorphisms in alpha2delta3 that are associated with reduced acute heat pain sensitivity in healthy volunteers and chronic postsurgical back pain.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19240061 Observational study of gene-disease association. (HuGE Navigator)
18588891 Loss of CACNA2D3 expression through aberrant promoter hypermethylation may contribute to gastric carcinogenesis.
18519826 Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
17937436 did not detect submicroscopic deletion or duplication nor sequence alteration in either CACNA2D3 or WNT5A in ZLS-affected individuals
12181424 This publication primarily discusses the alpha2/delta 4 subunit, but also contains cDNA data relating to the gene described in this record.

AA Sequence

MAGPGSPRRASRGASALLAAALLYAALGDVVRSEQQIPLSVVKLWASAFGGEIKSIAAKYSGSQLLQKKY      1 - 70
KEYEKDVAIEEIDGLQLVKKLAKNMEEMFHKKSEAVRRLVEAAEEAHLKHEFDADLQYEYFNAVLINERD     71 - 140
KDGNFLELGKEFILAPNDHFNNLPVNISLSDVQVPTNMYNKDPAIVNGVYWSESLNKVFVDNFDRDPSLI    141 - 210
WQYFGSAKGFFRQYPGIKWEPDENGVIAFDCRNRKWYIQAATSPKDVVILVDVSGSMKGLRLTIAKQTVS    211 - 280
SILDTLGDDDFFNIIAYNEELHYVEPCLNGTLVQADRTNKEHFREHLDKLFAKGIGMLDIALNEAFNILS    281 - 350
DFNHTGQGSICSQAIMLITDGAVDTYDTIFAKYNWPDRKVRIFTYLIGREAAFADNLKWMACANKGFFTQ    351 - 420
ISTLADVQENVMEYLHVLSRPKVIDQEHDVVWTEAYIDSTLPQAQKLTDDQGPVLMTTVAMPVFSKQNET    421 - 490
RSKGILLGVVGTDVPVKELLKTIPKYKLGIHGYAFAITNNGYILTHPELRLLYEEGKKRRKPNYSSVDLS    491 - 560
EVEWEDRDDVLRNAMVNRKTGKFSMEVKKTVDKGKRVLVMTNDYYYTDIKGTPFSLGVALSRGHGKYFFR    561 - 630
GNVTIEEGLHDLEHPDVSLADEWSYCNTDLHPEHRHLSQLEAIKLYLKGKEPLLQCDKELIQEVLFDAVV    631 - 700
SAPIEAYWTSLALNKSENSDKGVEVAFLGTRTGLSRINLFVGAEQLTNQDFLKAGDKENIFNADHFPLWY    701 - 770
RRAAEQIPGSFVYSIPFSTGPVNKSNVVTASTSIQLLDERKSPVVAAVGIQMKLEFFQRKFWTASRQCAS    771 - 840
LDGKCSISCDDETVNCYLIDNNGFILVSEDYTQTGDFFGEIEGAVMNKLLTMGSFKRITLYDYQAMCRAN    841 - 910
KESSDGAHGLLDPYNAFLSAVKWIMTELVLFLVEFNLCSWWHSDMTAKAQKLKQTLEPCDTEYPAFVSER    911 - 980
TIKETTGNIACEDCSKSFVIQQIPSSNLFMVVVDSSCLCESVAPITMAPIEIRYNESLKCERLKAQKIRR    981 - 1050
RPESCHGFHPEENARECGGAPSLQAQTVLLLLPLLLMLFSR                                1051 - 1091
//

Text Mined References (25)

PMID Year Title
26460247 2015 Genetic contribution to iron status: SNPs related to iron deficiency anaemia and fine mapping of CACNA2D3 calcium channel subunit.
24375517 2014 Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?
24315451 2014 Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
24096698 2014 Genome-wide association study of endometrial cancer in E2C2.
23870195 2013 Genetics of coronary artery calcification among African Americans, a meta-analysis.
23649311 2013 Characterization of CACNA2D3 as a putative tumor suppressor gene in the development and progression of nasopharyngeal carcinoma.
23560067 2013 Investigation of tumor suppressing function of CACNA2D3 in esophageal squamous cell carcinoma.
23324578 2013 Identification of a novel quantitative trait nucleotype related to iron status in a calcium channel gene.
22644305 2012 Methylation of the calcium channel regulatory subunit ?2?-3 (CACNA2D3) predicts site-specific relapse in oestrogen receptor-positive primary breast carcinomas.
22542470 2012 Genome-wide association study of antibody response to smallpox vaccine.
22395973 2012 Integration of global spectral karyotyping, CGH arrays, and expression arrays reveals important genes in the pathogenesis of glioblastoma multiforme.
21074052 2010 A genome-wide Drosophila screen for heat nociception identifies ?2?3 as an evolutionarily conserved pain gene.
20889312 2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19240061 2009 Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
18588891 2008 Methylation of the calcium channel-related gene, CACNA2D3, is frequent and a poor prognostic factor in gastric cancer.
18519826 2008 Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
17937436 2007 Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12181424 2002 Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit.
11687876 2001 Tissue-specific expression and gabapentin-binding properties of calcium channel alpha2delta subunit subtypes.
11329013 2001 Creation of genome-wide protein expression libraries using random activation of gene expression.
11245980 2001 Cloning a calcium channel alpha2delta-3 subunit gene from a putative tumor suppressor gene region at chromosome 3p21.1 in conventional renal cell carcinoma.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.