Property Summary

NCBI Gene PubMed Count 14
Grant Count 9
R01 Count 9
Funding $512,229.15
PubMed Score 2.58
PubTator Score 4.35

Knowledge Summary

Patent (655)

Expression

  Differential Expression (12)

Disease log2 FC p
astrocytic glioma -2.700 0.001
ependymoma -3.600 0.000
oligodendroglioma -2.700 0.000
glioblastoma -3.500 0.000
medulloblastoma -3.000 0.000
atypical teratoid / rhabdoid tumor -3.500 0.000
medulloblastoma, large-cell -2.600 0.003
primitive neuroectodermal tumor -3.100 0.000
pediatric high grade glioma -3.300 0.000
pilocytic astrocytoma -3.400 0.000
severe Alzheimer's disease -1.369 0.014
Pick disease -1.400 0.016

Synonym

Accession O60359
Symbols

Gene

  TechDev Info (2)

Jing-Ruey Yeh gRNA validated for zebrafish model, zebrafish mutant available, zebrafish phenotype observed
Susumu Tomita phenotype in mouse

Gene RIF (4)

PMID Text
21169531 These results suggest that CACNG3 is the best candidate for an age-related macular degeneration risk gene within the 16p12 linkage peak.
17264864 Observational study of gene-disease association. (HuGE Navigator)
17264864 CACNG3 on chromosome 16p12-p13.1 may represent susceptibility loci for CAE.
14505496 examined distribution of the stargazin-like proteins gamma2, gamma3, and gamma4 in human CNS: gamma2 is expressed in cerebellum, cerebral cortex, hippocampus and thalamus, whereas gamma3 abounds in cerebral cortex & amygdala and gamma4 in basal ganglia

AA Sequence

MRMCDRGIQMLITTVGAFAAFSLMTIAVGTDYWLYSRGVCRTKSTSDNETSRKNEEVMTHSGLWRTCCLE      1 - 70
GAFRGVCKKIDHFPEDADYEQDTAEYLLRAVRASSVFPILSVTLLFFGGLCVAASEFHRSRHNVILSAGI     71 - 140
FFVSAGLSNIIGIIVYISANAGDPGQRDSKKSYSYGWSFYFGAFSFIIAEIVGVVAVHIYIEKHQQLRAK    141 - 210
SHSEFLKKSTFARLPPYRYRFRRRSSSRSTEPRSRDLSPISKGFHTIPSTDISMFTLSRDPSKITMGTLL    211 - 280
NSDRDHAFLQFHNSTPKEFKESLHNNPANRRTTPV                                       281 - 315
//

Text Mined References (14)

PMID Year Title
21169531 2011 Dissection of chromosome 16p12 linkage peak suggests a possible role for CACNG3 variants in age-related macular degeneration susceptibility.
20219255 2010 TARPs differentially decorate AMPA receptors to specify neuropharmacology.
18304745 2009 Functional modulation of AMPA receptors by transmembrane AMPA receptor regulatory proteins.
17652770 2007 Calcium channel gamma subunits: a functionally diverse protein family.
17264864 2007 Linkage and association analysis of CACNG3 in childhood absence epilepsy.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
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.
14505496 2003 Human neuronal stargazin-like proteins, gamma2, gamma3 and gamma4; an investigation of their specific localization in human brain and their influence on CaV2.1 voltage-dependent calcium channels expressed in Xenopus oocytes.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
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