Property Summary

NCBI Gene PubMed Count 49
Grant Count 25
R01 Count 13
Funding $3,427,945.62
PubMed Score 87.00
PubTator Score 75.23

Knowledge Summary

Patent (2,064)

Expression

  Differential Expression (9)

Disease log2 FC p
oligodendroglioma 1.900 0.013
glioblastoma 2.200 0.000
posterior fossa group B ependymoma 1.700 0.000
medulloblastoma 1.300 0.016
medulloblastoma, large-cell 2.500 0.006
primitive neuroectodermal tumor 1.500 0.015
colon cancer -1.900 0.000
adult high grade glioma 2.400 0.002
pituitary cancer -3.700 0.000

Gene RIF (36)

PMID Text
25637600 CNGA3 mutation is the most frequent cause of achromatopsia in this cohort of patients. Ten novel mutations were identified in CNGA3.
25616768 Among Israeli and Palestinian patients, CNGA3 mutations are the leading cause of achromatopsia. Retinal structural results support the candidacy of CNGA3 ACHM for clinical trials for therapy of cone photoreceptors.
25052312 The c.955T>C change identified in large consanguineous Pakistani family represents the first variant of CNGA3 which was found to be responsible for the cone-rod dystrophy phenotype.
24903488 Our results suggest that CNGA3 mutations are a common cause of cone-rod dystrophies and achromatopsia in the Chinese population.
24676353 Genetic testing revealed a common homozygous mutation in CNGB3 in 5 patients with complete achromatopsia and heterozygous mutations in CNGA3 in 2 patients with incomplete achromatopsia.
24675082 CNGA3 alternative splicing may have evolved, in part, to tune the interactions between cone CNG channels and membrane-bound phosphoinositides.
23677796 The biochemical feedback regulation of CNGA3 mutations in color blindness is reported.
23552282 These studies support a model in which intersubunit interactions control the sensitivity of cone CNG channels to regulation by phosphoinositides.
23362848 The majority (n = 12) of patients were either homozygotes or compound heterozygotes for known achromatopsia alleles, two in CNGB3 (p.T383fsX and p.T296YfsX9) and three in CNGA3 (p.R283Q, p.R427C and p.L527R).
22493484 observed a nuclear translocation of apoptosis-inducing factor (AIF) and endonuclease G in CNGA3(-/-)/Nrl(-/-) and CNGB3(-/-)/Nrl(-/-) retinas, implying a mitochondrial insult in the endoplasmic reticulum stress-activated cell death process
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AA Sequence

MAKINTQYSHPSRTHLKVKTSDRDLNRAENGLSRAHSSSEETSSVLQPGIAMETRGLADSGQGSFTGQGI      1 - 70
ARLSRLIFLLRRWAARHVHHQDQGPDSFPDRFRGAELKEVSSQESNAQANVGSQEPADRGRSAWPLAKCN     71 - 140
TNTSNNTEEEKKTKKKDAIVVDPSSNLYYRWLTAIALPVFYNWYLLICRACFDELQSEYLMLWLVLDYSA    141 - 210
DVLYVLDVLVRARTGFLEQGLMVSDTNRLWQHYKTTTQFKLDVLSLVPTDLAYLKVGTNYPEVRFNRLLK    211 - 280
FSRLFEFFDRTETRTNYPNMFRIGNLVLYILIIIHWNACIYFAISKFIGFGTDSWVYPNISIPEHGRLSR    281 - 350
KYIYSLYWSTLTLTTIGETPPPVKDEEYLFVVVDFLVGVLIFATIVGNVGSMISNMNASRAEFQAKIDSI    351 - 420
KQYMQFRKVTKDLETRVIRWFDYLWANKKTVDEKEVLKSLPDKLKAEIAINVHLDTLKKVRIFQDCEAGL    421 - 490
LVELVLKLRPTVFSPGDYICKKGDIGKEMYIINEGKLAVVADDGVTQFVVLSDGSYFGEISILNIKGSKS    491 - 560
GNRRTANIRSIGYSDLFCLSKDDLMEALTEYPEAKKALEEKGRQILMKDNLIDEELARAGADPKDLEEKV    561 - 630
EQLGSSLDTLQTRFARLLAEYNATQMKMKQRLSQLESQVKGGGDKPLADGEVPGDATKTEDKQQ          631 - 694
//

Text Mined References (52)

PMID Year Title
26493561 2015 Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia.
25637600 2015 Novel CNGA3 mutations in Chinese patients with achromatopsia.
25616768 2015 Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.
25052312 2015 Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy.
24903488 2014 Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients.
24676353 2014 Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy.
24675082 2014 Alternative splicing governs cone cyclic nucleotide-gated (CNG) channel sensitivity to regulation by phosphoinositides.
24164424 2013 Cyclic nucleotide-gated channel subunit glycosylation regulates matrix metalloproteinase-dependent changes in channel gating.
23735507 2013 A suppressor screen of the chimeric AtCNGC11/12 reveals residues important for intersubunit interactions of cyclic nucleotide-gated ion channels.
23677796 2013 Feedback regulation of cone cyclic nucleotide channels by phosphoinositides. Focus on "CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions".
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