Property Summary

NCBI Gene PubMed Count 49
PubMed Score 87.00
PubTator Score 75.23

Knowledge Summary

Patent (2,064)


  Differential Expression (9)

Disease log2 FC p
oligodendroglioma 1.900 1.3e-02
glioblastoma 2.200 1.6e-04
posterior fossa group B ependymoma 1.700 1.1e-04
medulloblastoma 1.300 1.6e-02
medulloblastoma, large-cell 2.500 6.0e-03
primitive neuroectodermal tumor 1.500 1.5e-02
colon cancer -1.900 2.1e-07
adult high grade glioma 2.400 1.5e-03
pituitary cancer -3.700 5.5e-09

Gene RIF (36)

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
21912902 We describe a novel S4 motif mutation of CNGA3 in a Pakistani family.
21911670 Two compound heterozygous mutations were identified in CNGA3 of this patient, c.829C>T p.R277C and c.1580T>G p.L527R; they were not observed in the normal population and cosegregated with the phenotype of achromatopsia in the patient's family.
21901789 in a set of consanguineous patient families with Leber congenital amaurosis study identified five putative disease-causing mutations, including four novel alleles, in six families; These five mutations are located in four genes, ALMS1, IQCB1, CNGA3, and MYO7A
21268679 This is the second reported case of CNGA3 associated oligocone trichromacy (OT).
21267001 Missense mutations, nonsense mutations, splice mutations, and small deletions and insertions in the affected genes cause achromatopsia.
20801516 Observational study of genetic testing. (HuGE Navigator)
20549516 haplotype analysis of c.1585G>A-bearing chromosomes from Middle Eastern and European origins showed a shared Muslim-Jewish haplotype, different from that detected in Europeans, indicating a recurrent mutation with a Jewish-Muslim founder effect
20506298 Data identified three novel mutations in the pore-forming region of CNGA3 (L363P, G367V, and E376K) in achromatopsia patients, and reduced macroscopic currents for channels with the mutations G367V, and E376K.
20454696 Genetic analysis of two Pakistani families with retinal disease enabled the establishment of the correct diagnosis of achromatopsia. Two novel mutations were identified in CNGA3 and CNGB3 that are both specifically expressed in cone photoreceptors.
20079539 Our data indicate that these genes are involved in a broader spectrum of cone dysfunction, and it remains intriguing why initial cone function can be spared despite similar gene defects.
19592100 The CNGB3 gene was by far the most important causal gene, and T383IfsX13 the most frequent mutation in complete and incomplete achromatopsia.
19592100 Observational study of gene-disease association. (HuGE Navigator)
18636117 Achromatopsia in these two United Arab Emirates families results from two different mutations in CNGA3.
18521937 The identification of three novel CNGA3 missense mutations in achromatopsia patients.
18445228 identification of three new CNGA3 mutations in patients with achromatopsia
17693388 the T565M and E593K mutations of CNGA3 alter the apparent affinity for cGMP of the channels to cause cone dysfunction, resulting in rod monochromacy
17018579 Phospholipid metabolism and exogenously applied phosphatidylinositol 3,4,5-trisphosphate can modulate heterologously expressed cone CNG channels.
16961972 The outcome suggests low frequency (7%, 1/14) of CNGA3 mutations (R436W, L633P) in Japanese patients.
16319819 Mutations in CNGA3 and CNGB3 account for achromatopsia in Hungarian patients including known mutations and a few new CNGB3 mutations.
15743887 Plasma membrane localization and gating properties of cone CNGA3 channels are altered by progressive cone dystrophy-associated mutations, evidence of pathogenicity of these mutations.
15712225 Out of 36 achromats, 12 (33%) had mutations in CNGA3 (13 different mutations including five novel mutations).
15134637 Functional markers for CNGA3 (A3) dimers confirms that A3 subunits gain membership into the pore-forming tetramers and that like subunits are positioned adjacent to each other in cone photoreceptors.
15024024 the S4 structural motif of CNGA3 is important for cellular processing of cone photoreceptor cyclic GMP-gated ion channels
14757870 Novel causative CNGA3 missense mutations found in Achromatopsia patients in the United Kingdom.
12432397 The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry
11536077 mutations in cone photoreceptor disorders

AA Sequence


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".
23552282 2013 CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions.
23362848 2013 Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.
23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
22493484 2012 Endoplasmic reticulum stress-associated cone photoreceptor degeneration in cyclic nucleotide-gated channel deficiency.
21912902 2011 Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of CNGA3.
21911670 2011 Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient.
21901789 2011 Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.
21878911 2011 Molecular mechanism for 3:1 subunit stoichiometry of rod cyclic nucleotide-gated ion channels.
21268679 2011 Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders.
21267001 2011 Clinical utility gene card for: achromatopsia.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20549516 2010 An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews.
20506298 2010 Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel.
20454696 2010 Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.
20079539 2010 Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.
19592100 2009 Genetic etiology and clinical consequences of complete and incomplete achromatopsia.
18636117 2008 CNGA3 mutations in two United Arab Emirates families with achromatopsia.
18521937 2008 Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.
18445228 2008 Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C).
17693388 2007 Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel.
17286855 2007 Mapping of transcription start sites of human retina expressed genes.
17018579 2007 Regulation of human cone cyclic nucleotide-gated channels by endogenous phospholipids and exogenously applied phosphatidylinositol 3,4,5-trisphosphate.
16961972 Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia.
16382102 2005 International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels.
16319819 2005 Clinical and genetic features of Hungarian achromatopsia patients.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15743887 2005 Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit.
15712225 2005 Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15134637 2004 Subunit configuration of heteromeric cone cyclic nucleotide-gated channels.
15024024 2004 Cellular processing of cone photoreceptor cyclic GMP-gated ion channels: a role for the S4 structural motif.
14757870 2004 Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12432397 2002 The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry.
11536077 2001 CNGA3 mutations in hereditary cone photoreceptor disorders.
10888875 2000 Genetic basis of total colourblindness among the Pingelapese islanders.
9721202 1998 Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11.
9662398 1998 Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.
9517456 1997 Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors.
9158143 1997 Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling.
7532814 1994 Expression of cyclic nucleotide-gated cation channels in non-sensory tissues and cells.