Property Summary

NCBI Gene PubMed Count 23
PubMed Score 35.56
PubTator Score 16.05

Knowledge Summary

Patent (5,795)

TINX Plot

  Disease Sources (4)

Disease Target Count P-value
psoriasis 6685 1.36344156927599E-115
non-small cell lung cancer 2798 3.51358822821752E-30
ovarian cancer 8492 5.56971651408075E-10
lung adenocarcinoma 2714 4.75892444718159E-9
lung cancer 4473 9.29965550640082E-8
glioblastoma 5572 7.82256503775163E-7
adult high grade glioma 2148 5.35580383671656E-6
posterior fossa group A ependymoma 1511 1.75096340263152E-5
pilocytic astrocytoma 3086 3.49499174427243E-5
atypical teratoid / rhabdoid tumor 4369 4.02986804533542E-5
osteosarcoma 7933 4.69065000407106E-5
medulloblastoma, large-cell 6234 0.00228639254490126
subependymal giant cell astrocytoma 2287 0.0304078366466926
Disease Target Count Z-score Confidence
Cerebellar Ataxia 72 3.05 1.5

Expression

  Differential Expression (13)

Disease log2 FC p
osteosarcoma 1.062 0.000
glioblastoma -1.700 0.000
atypical teratoid / rhabdoid tumor -1.400 0.000
medulloblastoma, large-cell -1.400 0.002
non-small cell lung cancer -3.386 0.000
lung cancer -5.600 0.000
adult high grade glioma -2.300 0.000
pilocytic astrocytoma -1.300 0.000
posterior fossa group A ependymoma -1.200 0.000
subependymal giant cell astrocytoma -2.421 0.030
lung adenocarcinoma -3.100 0.000
ovarian cancer 1.100 0.000
psoriasis -1.800 0.000

Synonym

Accession Q9NY47 A7MD15 Q9NY48 Q9UEW0 Q9Y268
Symbols CACNA2D

Gene

  Ortholog (7)

Gene RIF (7)

PMID Text
25619833 show that the action of alpha2delta2 on tumor development occurs not only through a stimulation of proliferation
23402298 The investigation of single nucleotide polymorphisms in three genes that have a functional impact on the opioid response: OPRM1, ABCB1 and the calcium channel complex subunit CACNA2D2, is reported.
21809394 CACNA2D2 deletion/methylation is associated with cervical disease progression.
17135419 Although transgenic du(2J)/+ mice have a marked reduction in alpha2delta-2 protein, they show no fall in Purkinje somatic calcium currents or increase in cerebellar tyrosine hydroxylase gene expression.
15331424 In mice, targeted disruption of Cacna2d2 led to growth retardation, reduced life span, ataxia, enhanced susceptibility to seizures, and cardiac abnormalities. Cacna2d2 may be involved in hereditary cerebellar ataxias and epileptic disorders in humans.
12555074 role in apoptosis in non-small cell lung cancer cells via association with alterations of the intracellular calcium signaling and disruption of mitochondria membrane integrity
11851383 single nucleotide polymorphism identified

AA Sequence

MAVPARTCGASRPGPARTARPWPGCGPHPGPGTRRPTSGPPRPLWLLLPLLPLLAAPGASAYSFPQQHTM      1 - 70
QHWARRLEQEVDGVMRIFGGVQQLREIYKDNRNLFEVQENEPQKLVEKVAGDIESLLDRKVQALKRLADA     71 - 140
AENFQKAHRWQDNIKEEDIVYYDAKADAELDDPESEDVERGSKASTLRLDFIEDPNFKNKVNYSYAAVQI    141 - 210
PTDIYKGSTVILNELNWTEALENVFMENRRQDPTLLWQVFGSATGVTRYYPATPWRAPKKIDLYDVRRRP    211 - 280
WYIQGASSPKDMVIIVDVSGSVSGLTLKLMKTSVCEMLDTLSDDDYVNVASFNEKAQPVSCFTHLVQANV    281 - 350
RNKKVFKEAVQGMVAKGTTGYKAGFEYAFDQLQNSNITRANCNKMIMMFTDGGEDRVQDVFEKYNWPNRT    351 - 420
VRVFTFSVGQHNYDVTPLQWMACANKGYYFEIPSIGAIRINTQEYLDVLGRPMVLAGKEAKQVQWTNVYE    421 - 490
DALGLGLVVTGTLPVFNLTQDGPGEKKNQLILGVMGIDVALNDIKRLTPNYTLGANGYVFAIDLNGYVLL    491 - 560
HPNLKPQTTNFREPVTLDFLDAELEDENKEEIRRSMIDGNKGHKQIRTLVKSLDERYIDEVTRNYTWVPI    561 - 630
RSTNYSLGLVLPPYSTFYLQANLSDQILQVKLPISKLKDFEFLLPSSFESEGHVFIAPREYCKDLNASDN    631 - 700
NTEFLKNFIELMEKVTPDSKQCNNFLLHNLILDTGITQQLVERVWRDQDLNTYSLLAVFAATDGGITRVF    701 - 770
PNKAAEDWTENPEPFNASFYRRSLDNHGYVFKPPHQDALLRPLELENDTVGILVSTAVELSLGRRTLRPA    771 - 840
VVGVKLDLEAWAEKFKVLASNRTHQDQPQKCGPNSHCEMDCEVNNEDLLCVLIDDGGFLVLSNQNHQWDQ    841 - 910
VGRFFSEVDANLMLALYNNSFYTRKESYDYQAACAPQPPGNLGAAPRGVFVPTVADFLNLAWWTSAAAWS    911 - 980
LFQQLLYGLIYHSWFQADPAEAEGSPETRESSCVMKQTQYYFGSVNASYNAIIDCGNCSRLFHAQRLTNT    981 - 1050
NLLFVVAEKPLCSQCEAGRLLQKETHSDGPEQCELVQRPRYRRGPHICFDYNATEDTSDCGRGASFPPSL   1051 - 1120
GVLVSLQLLLLLGLPPRPQPQVLVHASRRL                                           1121 - 1150
//

Text Mined References (29)

PMID Year Title
25619833 2015 CACNA2D2 promotes tumorigenesis by stimulating cell proliferation and angiogenesis.
24358150 2013 A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.
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.
23339110 2013 Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy.
21809394 2012 Alterations of RASSF1A in premalignant cervical lesions: clinical and prognostic significance.
21651903 2011 Pregabalin is a potent and selective ligand for ?(2)?-1 and ?(2)?-2 calcium channel subunits.
20561025 2010 Familial form of typical childhood absence epilepsy in a consanguineous context.
19927152 2010 Accumulation of common polymorphisms is associated with development of hypertension: a 12-year follow-up from the Ohasama study.
19349973 2009 Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins.
17135419 2006 The ducky(2J) mutation in Cacna2d2 results in reduced spontaneous Purkinje cell activity and altered gene expression.
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