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 0.026
astrocytic glioma -2.600 0.002
ependymoma -2.800 0.002
oligodendroglioma -2.200 0.012
glioblastoma -3.700 0.000
osteosarcoma -2.570 0.000
medulloblastoma -2.700 0.002
atypical teratoid / rhabdoid tumor -2.900 0.001
medulloblastoma, large-cell -3.800 0.000
tuberculosis and treatment for 3 months 2.800 0.000
lung adenocarcinoma -1.200 0.000
pediatric high grade glioma -3.100 0.000
pilocytic astrocytoma -2.800 0.000
Alzheimer's disease -1.300 0.043
Pick disease -2.100 0.001
ovarian cancer -1.300 0.001
pituitary cancer 1.700 0.022
psoriasis 1.200 0.000

Synonym

Accession Q8IZS8 B2RPL6 Q9NY16 Q9NY18
Symbols HSA272268

Gene

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.
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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.
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