| Tchem | Voltage-dependent calcium channel subunit alpha-2/delta-3 |
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) but not T-type (CACNA1G) (By similarity).
This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| psoriasis | 6685 | 2.8e-56 |
| lung adenocarcinoma | 2714 | 9.1e-17 |
| osteosarcoma | 7933 | 3.4e-08 |
| pilocytic astrocytoma | 3086 | 3.3e-07 |
| pediatric high grade glioma | 2712 | 1.5e-06 |
| glioblastoma | 5572 | 7.2e-06 |
| tuberculosis and treatment for 3 months | 327 | 1.0e-05 |
| medulloblastoma, large-cell | 6234 | 1.2e-04 |
| Pick disease | 1893 | 5.6e-04 |
| atypical teratoid / rhabdoid tumor | 4369 | 1.3e-03 |
| ovarian cancer | 8491 | 1.3e-03 |
| medulloblastoma | 1524 | 1.8e-03 |
| astrocytic glioma | 2241 | 2.0e-03 |
| ependymoma | 2514 | 2.2e-03 |
| oligodendroglioma | 2849 | 1.2e-02 |
| pituitary cancer | 1972 | 2.2e-02 |
| Rheumatoid Arthritis | 1170 | 2.6e-02 |
| Alzheimer's disease | 644 | 4.3e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Hereditary night blindness | 3 | 3.465 | 1.7 |
| Gingival fibromatosis | 13 | 3.402 | 1.7 |
| 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 |
| 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. |
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 //
| 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. |
