Gene: GUCY2D

Alternate names for this Gene: CACD1|CG-E|CORD5|CORD6|CSNB1I|CYGD|GUC1A4|GUC2D|LCA|LCA1|RCD2|RETGC-1|ROS-GC1|ROSGC|retGC

Gene Summary: This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: guanylate cyclase 2D, retinal

Type of Gene: protein-coding

rs1555635778 in GUCY2D gene and Amaurosis congenita of Leber, type 1 PMID 10636733 1999 A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan.

PMID 15123990 2004 Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.

PMID 17724218 2007 Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.

PMID 11035546 2000 Mutational analysis and clinical correlation in Leber congenital amaurosis.

PMID 30319355 2018 Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis.

PMID 9888789 1999 Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis.

PMID 27475985 2016 Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.

PMID 12365911 2002 Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations.

PMID 8944027 1996 Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.

PMID 21602930 2011 Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

PMID 20683928 2010 Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.

PMID 16505055 2006 Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.

PMID 23035049 2013 Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.

PMID 26626312 2016 Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.

PMID 20050595 2010 A similar effect was observed with another LCA-related mutation, R768W, in the same domain of RetGC1.

PMID 25477517 2015 Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1.

PMID 26253563 2015 Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast.

PMID 11328726 2001 Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA).

PMID 17964524 2007 Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.

PMID 10951519 2000 Spectrum of retGC1 mutations in Leber's congenital amaurosis.

rs61749668 in GUCY2D gene and Cone Dystrophy PMID 18055820 2007 An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.

rs1348467293 in GUCY2D gene and Dysmorphic features PMID 24997176 2014 Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.

PMID 20517349 2010 A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.

PMID 25515582 2014 Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.

PMID 29061346 2018 Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.

PMID 12365911 2002 Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations.

PMID 10951519 2000 Spectrum of retGC1 mutations in Leber's congenital amaurosis.

PMID 19959640 2010 Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.

PMID 17651254 2007 Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.

PMID 23035049 2013 Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.

rs61750168 in GUCY2D gene and Leber Congenital Amaurosis PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs1348467293 in GUCY2D gene and Multiple congenital anomalies PMID 17651254 2007 Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.

PMID 10951519 2000 Spectrum of retGC1 mutations in Leber's congenital amaurosis.

PMID 20517349 2010 A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.

PMID 12365911 2002 Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations.

PMID 24997176 2014 Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.

PMID 23035049 2013 Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.

PMID 29061346 2018 Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.

PMID 19959640 2010 Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.

PMID 25515582 2014 Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.

rs61750173 in GUCY2D gene and Retinal Dystrophies PMID 11565546 2001 Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies.

rs1555635778 in GUCY2D gene and Retinal cone dystrophy 2 PMID 10636733 1999 A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan.

PMID 20517349 2010 A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.

PMID 23734073 2013 A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy.

PMID 12552567 2003 Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.

PMID 9683616 1998 A retGC-1 mutation in autosomal dominant cone-rod dystrophy.

PMID 21552474 2011 Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.

PMID 18487367 2008 Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.

PMID 25515582 2014 Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.

PMID 9618177 1998 Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

PMID 30319355 2018 Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis.

PMID 22194653 2011 A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.

PMID 15111605 2004 Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy.

PMID 18332321 2008 New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration.

PMID 24480840 2014 A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene.

PMID 27475985 2016 Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.

PMID 20683928 2010 Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.

PMID 8944027 1996 Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.

PMID 20050595 2010 Activation of retinal guanylyl cyclase RetGC1 by GCAP1: stoichiometry of binding and effect of new LCA-related mutations.

PMID 25477517 2015 Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1.

PMID 23035049 2013 Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.

PMID 16505055 2006 Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.

PMID 17724218 2007 Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.

PMID 26253563 2015 Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast.

PMID 26626312 2016 Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.

PMID 17964524 2007 Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.

PMID 10951519 2000 Spectrum of retGC1 mutations in Leber's congenital amaurosis.

PMID 11328726 2001 Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA).