Property Summary

NCBI Gene PubMed Count 37
PubMed Score 100.18
PubTator Score 50.24

Knowledge Summary

Patent (2,652)


Gene RIF (29)

25558176 Eight different mutations were detected in the CNGB3 gene in achromatopsia, including five novel mutations: two splice site mutations, one nonsense substitution, and two frame-shift mutations.
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.
24664743 Genetic testing performed at Carver lab at the University of Iowa confirmed a diagnosis of achromatopsia with identical mutations in the CNGB3 gene.
23940504 Data found pathogenic DNA variants in the genes RP1, USH2A, CNGB3, NMNAT1, CHM, and ABCA4, responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia, or recessive Stargardt/cone-rod dystrophy cases.
23805033 Achromatopsia associated F525N and T383fsX mutations in the CNGB3 subunit of cone photoreceptor cyclic nucleotide-gated (CNG) channels increases susceptibility to cell death in photoreceptor-derived cells.
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).
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)
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.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20378608 Subretinal administration of rAAV5-hCNGB3 with a long version of the red cone opsin promoter in younger animals led to a stable therapeutic effect for at least 33 months.
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.
19767295 down-regulation of CNGA3 contributes to the pathogenic mechanism by which CNGB3 mutations lead to human cone disease.
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)
17652762 Foveomacular atrophy can occur in CNGB3-affected subjects, and even heterozygous carriers can exhibit maculopathy
17651254 Testing confirms the diagnosis at the molecular level and allows for a more precise prognosis of the possible future clinical evolution
17265047 CNGA3 and CNGB3 mutations are responsible for the substantial majority of achromatopsia. Furthermore, the CNGB3 mutation p.T383fsX is a predominant mutation, results from a founder effect
17018579 Phospholipid metabolism and exogenously applied phosphatidylinositol 3,4,5-trisphosphate can modulate heterologously expressed cone CNG channels.
16379026 We have examined the gating effects of two previously uncharacterized disease-associated mutations in the CNGB3 subunit and found that in each case, the mutations resulted in a gain of function molecular phenotype.
16319819 Mutations in CNGA3 and CNGB3 account for achromatopsia in Hungarian patients including known mutations and a few new CNGB3 mutations.
15712225 Out of 36 achromats, 12 (33%) had mutations in CNGB3 (six different mutations including four novel mutations). CNGB3 should be considered as a candidate gene to be evaluated in patients with forms of cone dysfunction, including macular degeneration.
15657609 Observational study of genotype prevalence. (HuGE Navigator)
15657609 findings indicate that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent
15161866 In this study, a novel Arg403Gln mutation was identified, located in the middle of the pore domain of the cone CNG cation channel beta-subunit, which when associated with the nonsense mutation Thr383fs, resulted in progressive cone dystrophy.
15134637 Cone photoreceptor cyclic nucleotide-gated channels are tetrameric assemblies of CNGB3 (B3) subunits. The stoichiometry and arrangement for B3 show pore-forming tetramers and like subunits are positioned adjacent to each other.
14757870 Novel causative CNGB3 missense mutations found in Achromatopsia patients in the United Kingdom.
12815043 CNGB3 has a role in determining ligand sensitivity and pore properties of heteromeric channels
12730238 NH2- and COOH-terminal calmodulin-binding sites in CNGB3 are functionally important for regulation of cyclic nucleotide-gated channel activity

AA Sequence

RRTVLPRGTSRQSLIISMAPSAEGGEEVLTIEVKEKAKQ                                   771 - 809

Text Mined References (39)

PMID Year Title
25558176 2014 Five novel CNGB3 gene mutations in Polish patients with achromatopsia.
24676353 2014 Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy.
24664743 2014 Spectral domain optical coherence tomography findings in CNGB3-associated achromatopsia and therapeutic implications.
24164424 2013 Cyclic nucleotide-gated channel subunit glycosylation regulates matrix metalloproteinase-dependent changes in channel gating.
23940504 2013 Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
23805033 2013 Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells.
23362848 2013 Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.
21878911 2011 Molecular mechanism for 3:1 subunit stoichiometry of rod cyclic nucleotide-gated ion channels.
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.
20454696 2010 Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20378608 2010 Gene therapy rescues cone function in congenital achromatopsia.
20079539 2010 Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.
19767295 2009 Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism.
19592100 2009 Genetic etiology and clinical consequences of complete and incomplete achromatopsia.
17652762 2007 CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.
17651254 2007 Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.
17286855 2007 Mapping of transcription start sites of human retina expressed genes.
17265047 2007 Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.
17018579 2007 Regulation of human cone cyclic nucleotide-gated channels by endogenous phospholipids and exogenously applied phosphatidylinositol 3,4,5-trisphosphate.
16421571 2006 DNA sequence and analysis of human chromosome 8.
16382102 2005 International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels.
16379026 2005 Disease-associated mutations in CNGB3 produce gain of function alterations in cone cyclic nucleotide-gated channels.
16319819 2005 Clinical and genetic features of Hungarian achromatopsia patients.
15712225 2005 Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
15657609 2005 CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
15223812 2004 Functional role of hCngb3 in regulation of human cone cng channel: effect of rod monochromacy-associated mutations in hCNGB3 on channel function.
15161866 2004 Progressive cone dystrophy associated with mutation in CNGB3.
15134637 2004 Subunit configuration of heteromeric cone cyclic nucleotide-gated channels.
14757870 2004 Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.
12815043 2003 Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels.
12730238 2003 Functionally important calmodulin-binding sites in both NH2- and COOH-terminal regions of the cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12357335 2002 A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.
10958649 2000 Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.
10888875 2000 Genetic basis of total colourblindness among the Pingelapese islanders.
10330355 1999 Homozygosity mapping of the Achromatopsia locus in the Pingelapese.
1347967 1992 Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.