Property Summary

NCBI Gene PubMed Count 49
PubMed Score 30.32
PubTator Score 18.70

Knowledge Summary

Patent (3,570)

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Malignant hyperthermia 25 4.275 2.1
Disease Target Count
Brugada syndrome 26
Short QT syndrome 1 4

Expression

  Differential Expression (28)

Disease log2 FC p
malignant mesothelioma -2.700 1.8e-06
astrocytoma -1.800 2.0e-13
glioblastoma -2.500 2.7e-04
oligodendroglioma -1.700 2.7e-09
osteosarcoma 1.279 7.6e-04
ependymoma -2.300 7.7e-05
group 4 medulloblastoma 2.500 2.2e-04
atypical teratoid / rhabdoid tumor -2.900 3.9e-03
medulloblastoma, large-cell 2.100 7.9e-04
primitive neuroectodermal tumor -2.500 1.3e-03
Atopic dermatitis -1.400 1.5e-04
primary pancreatic ductal adenocarcinoma 1.017 5.1e-03
colon cancer -2.500 5.7e-06
sarcoidosis 1.100 1.2e-02
pediatric high grade glioma -1.700 1.2e-03
pilocytic astrocytoma -1.400 6.1e-05
psoriasis -1.500 2.4e-10
nasopharyngeal carcinoma 2.400 1.1e-04
lung carcinoma 3.000 2.1e-30
breast carcinoma -1.300 4.2e-18
Pick disease -1.800 2.1e-02
Breast cancer -2.400 3.5e-08
ductal carcinoma in situ -1.900 5.3e-03
invasive ductal carcinoma -3.100 1.6e-03
ulcerative colitis 1.100 2.9e-03
ovarian cancer -3.900 4.1e-08
pituitary cancer 2.100 2.2e-07
dermatomyositis -1.300 2.9e-03

Protein-protein Interaction (8)

Gene RIF (17)

PMID Text
26845276 detected a joint effect of SNP and G x E interaction in BMP2 and CACNA2D1 for depressive state.
25074461 All three patients present with epilepsy and intellectual disability pinpointing the CACNA2D1 gene as an interesting candidate gene for these clinical features.
24438356 Compound mutation of CACNA2D1 and RANGRF genes were found. To the best of our knowledge, this is the first comprehensive description of the concurrence of these two mutations and histiocytoid cardiomyopathy.
24329154 Functional expression of CACNA2D1 is inhibited by prion protein expression with competition at glycosylphosphatidylinositol.
23414114 High prevalence of CACNA2D1, SCN5A, and CACNB2 genetic variants in the Danish population previously associated with Brugada syndrome has been found in new exome data.
23242029 this study reports the identification and characterization of the human alpha2delta-1 subunit gene promoter region and its regulation by specific transcription factor 1.
21464332 In neocortical slices from transgenic mice having a point mutation (i.e., R217A) of the alpha2delta-1 subunit of voltage-sensitive calcium channels, pregabalin does not affect potassium-evoked glutamate release, yet inhibits this release in wild-type mice.
21383000 Results show that mutation of CACNA2D1 gene causes a new varant of SCTS.
20817017 CACNA2D1 is a novel Brugada Syndrome susceptibility gene.
20817017 Observational study of gene-disease association. (HuGE Navigator)
20579869 (Review) In neurons, alpha2delta1 subunits are present mainly in presynaptic terminals; peripheral sensory nerve injury results in up-regulation of alpha2delta1 in dorsal root ganglion neurons, and there is consequent increase in trafficking of alpha2delta1 to their terminals.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19240061 Observational study of gene-disease association. (HuGE Navigator)
19001023 Timothy syndrome is a disease of excessive cellular Ca(2+) entry and life-threatening arrhythmias caused by a mutation in the primary cardiac L-type Ca(2+) channel (Ca(V)1.2).
17438119 Ion channel gating is regulated by calcium and calmodulin binding.
17224476 loss-of-function mutations in genes encoding the cardiac L-type calcium channel to be associated with a familial sudden cardiac death syndrome in which a Brugada syndrome phenotype is combined with shorter-than-normal QT intervals
14602720 CACNA2D1 has structural domains which contribute to the regulation of N-type calcium channel inactivation

AA Sequence

MAAGCLLALTLTLFQSLLIGPSSEEPFPSAVTIKSWVDKMQEDLVTLAKTASGVNQLVDIYEKYQDLYTV      1 - 70
EPNNARQLVEIAARDIEKLLSNRSKALVRLALEAEKVQAAHQWREDFASNEVVYYNAKDDLDPEKNDSEP     71 - 140
GSQRIKPVFIEDANFGRQISYQHAAVHIPTDIYEGSTIVLNELNWTSALDEVFKKNREEDPSLLWQVFGS    141 - 210
ATGLARYYPASPWVDNSRTPNKIDLYDVRRRPWYIQGAASPKDMLILVDVSGSVSGLTLKLIRTSVSEML    211 - 280
ETLSDDDFVNVASFNSNAQDVSCFQHLVQANVRNKKVLKDAVNNITAKGITDYKKGFSFAFEQLLNYNVS    281 - 350
RANCNKIIMLFTDGGEERAQEIFNKYNKDKKVRVFTFSVGQHNYDRGPIQWMACENKGYYYEIPSIGAIR    351 - 420
INTQEYLDVLGRPMVLAGDKAKQVQWTNVYLDALELGLVITGTLPVFNITGQFENKTNLKNQLILGVMGV    421 - 490
DVSLEDIKRLTPRFTLCPNGYYFAIDPNGYVLLHPNLQPKPIGVGIPTINLRKRRPNIQNPKSQEPVTLD    491 - 560
FLDAELENDIKVEIRNKMIDGESGEKTFRTLVKSQDERYIDKGNRTYTWTPVNGTDYSLALVLPTYSFYY    561 - 630
IKAKLEETITQARYSETLKPDNFEESGYTFIAPRDYCNDLKISDNNTEFLLNFNEFIDRKTPNNPSCNAD    631 - 700
LINRVLLDAGFTNELVQNYWSKQKNIKGVKARFVVTDGGITRVYPKEAGENWQENPETYEDSFYKRSLDN    701 - 770
DNYVFTAPYFNKSGPGAYESGIMVSKAVEIYIQGKLLKPAVVGIKIDVNSWIENFTKTSIRDPCAGPVCD    771 - 840
CKRNSDVMDCVILDDGGFLLMANHDDYTNQIGRFFGEIDPSLMRHLVNISVYAFNKSYDYQSVCEPGAAP    841 - 910
KQGAGHRSAYVPSVADILQIGWWATAAAWSILQQFLLSLTFPRLLEAVEMEDDDFTASLSKQSCITEQTQ    911 - 980
YFFDNDSKSFSGVLDCGNCSRIFHGEKLMNTNLIFIMVESKGTCPCDTRLLIQAEQTSDGPNPCDMVKQP    981 - 1050
RYRKGPDVCFDNNVLEDYTDCGGVSGLNPSLWYIIGIQFLLLWLVSGSTHRLL                    1051 - 1103
//

Text Mined References (50)

PMID Year Title
26845276 2016 Genome-wide environment interaction between depressive state and stressful life events.
25527503 2015 Functional characterization of CaV?2? mutations associated with sudden cardiac death.
25074461 2015 Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability.
24937803 2014 Mapping breakpoints of a familial chromosome insertion (18,7) (q22.1; q36.2q21.11) to DPP6 and CACNA2D1 genes in an azoospermic male.
24438356 2015 The perfect storm? Histiocytoid cardiomyopathy and compound CACNA2D1 and RANGRF mutation in a baby.
24329154 2014 The inhibition of functional expression of calcium channels by prion protein demonstrates competition with ?2? for GPI-anchoring pathways.
24159190 2014 Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
23934736 2013 Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
23665963 2013 Multidimensional prognostic risk assessment identifies association between IL12B variation and surgery in Crohn's disease.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23414114 2013 High prevalence of genetic variants previously associated with Brugada syndrome in new exome data.
23402298 2013 Combined analysis of circulating ?-endorphin with gene polymorphisms in OPRM1, CACNAD2 and ABCB1 reveals correlation with pain, opioid sensitivity and opioid-related side effects.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23242029 2013 Isolation and characterization of the 5´-upstream region of the human voltage-gated Ca(2+) channel ? 2?-1 auxiliary subunit gene: promoter analysis and regulation by transcription factor Sp1.
23006423 2012 Genetic association with overall survival of taxane-treated lung cancer patients - a genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.
22678293 2012 ?2? expression sets presynaptic calcium channel abundance and release probability.
22054663 2012 Identification of a disulfide bridge essential for structure and function of the voltage-gated Ca(2+) channel ?(2)?-1 auxiliary subunit.
21464332 2011 Amperometric measurement of glutamate release modulation by gabapentin and pregabalin in rat neocortical slices: role of voltage-sensitive Ca2+ ?2?-1 subunit.
21383000 2011 Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6).
20889312 2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
20848476 2010 Genetic predictors of medically refractory ulcerative colitis.
20817017 2010 Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.
20708005 2010 Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
20579869 2010 A new look at calcium channel ?2? subunits.
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.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19106618 Functional properties of the CaV1.2 calcium channel activated by calmodulin in the absence of alpha2delta subunits.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
19001023 2008 Proarrhythmic defects in Timothy syndrome require calmodulin kinase II.
17438119 2007 Elementary mechanisms producing facilitation of Cav2.1 (P/Q-type) channels.
17224476 2007 Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.
17088553 2006 Identification of the alpha2-delta-1 subunit of voltage-dependent calcium channels as a molecular target for pain mediating the analgesic actions of pregabalin.
16335952 Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14602720 2004 Several structural domains contribute to the regulation of N-type calcium channel inactivation by the beta 3 subunit.
12853948 2003 The DNA sequence of human chromosome 7.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11160515 2001 Biophysical properties, pharmacology, and modulation of human, neuronal L-type (alpha(1D), Ca(V)1.3) voltage-dependent calcium currents.
10623591 2000 Cloning of the beta(2a) subunit of the voltage-dependent calcium channel from human heart: cooperative effect of alpha(2)/delta and beta(2a) on the membrane expression of the alpha(1C) subunit.
10534405 1999 Genomic structure and functional expression of a human alpha(2)/delta calcium channel subunit gene (CACNA2).
10455017 1999 Structural requirement of the calcium-channel subunit alpha2delta for gabapentin binding.
9847074 1998 Toward a complete human genome sequence.
8188232 1994 Localization of the gene encoding the alpha 2/delta subunit (CACNL2A) of the human skeletal muscle voltage-dependent Ca2+ channel to chromosome 7q21-q22 by somatic cell hybrid analysis.
8107964 1993 Human neuronal voltage-dependent calcium channels: studies on subunit structure and role in channel assembly.
7951247 1994 Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.
2458626 1988 Sequence and expression of mRNAs encoding the alpha 1 and alpha 2 subunits of a DHP-sensitive calcium channel.
1309651 1992 Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype.