Property Summary

NCBI Gene PubMed Count 49
PubMed Score 30.32
PubTator Score 18.70

Knowledge Summary

Patent (3,570)

TINX Plot

  Disease Sources (7)

Disease Target Count P-value
lung carcinoma 2844 2.12664929331876E-30
breast carcinoma 1614 4.22225658882044E-18
astrocytoma 1493 1.97512506020424E-13
psoriasis 6685 2.43222191064805E-10
oligodendroglioma 2849 2.65769251011499E-9
Breast cancer 3099 3.52797745260677E-8
ovarian cancer 8492 4.14634440470852E-8
pituitary cancer 1972 2.15546999706851E-7
malignant mesothelioma 3163 1.8235450221237E-6
colon cancer 1475 5.74002536384566E-6
pilocytic astrocytoma 3086 6.07123752791173E-5
ependymoma 2514 7.67898024734622E-5
nasopharyngeal carcinoma 1056 1.05481997065453E-4
Atopic dermatitis 944 1.52996166741409E-4
group 4 medulloblastoma 1875 2.20855818980693E-4
glioblastoma 5572 2.71663787745587E-4
osteosarcoma 7933 7.60692053318188E-4
medulloblastoma, large-cell 6234 7.9218356476838E-4
pediatric high grade glioma 2712 0.00116523491605467
primitive neuroectodermal tumor 3031 0.00127815608011626
invasive ductal carcinoma 2950 0.00161204231380558
ulcerative colitis 2087 0.00287847328844915
dermatomyositis 967 0.00291989260872238
atypical teratoid / rhabdoid tumor 4369 0.00386193518745057
primary pancreatic ductal adenocarcinoma 1271 0.00508630339556227
ductal carcinoma in situ 1745 0.00527877473849855
sarcoidosis 368 0.0116860515117137
Pick disease 1893 0.0208689904343738
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 0.000
astrocytoma -1.800 0.000
glioblastoma -2.500 0.000
oligodendroglioma -1.700 0.000
osteosarcoma 1.279 0.001
ependymoma -2.300 0.000
group 4 medulloblastoma 2.500 0.000
atypical teratoid / rhabdoid tumor -2.900 0.004
medulloblastoma, large-cell 2.100 0.001
primitive neuroectodermal tumor -2.500 0.001
Atopic dermatitis -1.400 0.000
primary pancreatic ductal adenocarcinoma 1.017 0.005
colon cancer -2.500 0.000
sarcoidosis 1.100 0.012
pediatric high grade glioma -1.700 0.001
pilocytic astrocytoma -1.400 0.000
psoriasis -1.500 0.000
nasopharyngeal carcinoma 2.400 0.000
lung carcinoma 3.000 0.000
breast carcinoma -1.300 0.000
Pick disease -1.800 0.021
Breast cancer -2.400 0.000
ductal carcinoma in situ -1.900 0.005
invasive ductal carcinoma -3.100 0.002
ulcerative colitis 1.100 0.003
ovarian cancer -3.900 0.000
pituitary cancer 2.100 0.000
dermatomyositis -1.300 0.003

Synonym

Accession P54289 Q17R45 Q9UD80 Q9UD81 Q9UD82
Symbols CACNA2
CCHL2A
CACNL2A
LINC01112
lncRNA-N3

Gene

  Ortholog (9)

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)
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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.
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