Gene Ontology annotation through association of InterPro records with GO terms

Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity

Annotation inferences using phylogenetic trees

Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt

Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara

Electronic Gene Ontology annotations created by ARBA machine learning models

Combined Automated Annotation using Multiple IEA Methods

Spectrum of retGC1 mutations in Leber's congenital amaurosis.

Mutational analysis and clinical correlation in Leber congenital amaurosis.

Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy.

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

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

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

A critical role for ATP in the stimulation of retinal guanylyl cyclase by guanylyl cyclase-activating proteins.

Molecular cloning of a retina-specific membrane guanylyl cyclase.

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

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

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.

Patterns of somatic mutation in human cancer genomes.

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

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

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

Binding of guanylyl cyclase activating protein 1 (GCAP1) to retinal guanylyl cyclase (RetGC1). The role of individual EF-hands.

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

RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells.

Localization of a guanylyl cyclase to chemosensory cilia requires the novel ciliary MYND domain protein DAF-25.

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

Enzymatic properties and regulation of the native isozymes of retinal membrane guanylyl cyclase (RetGC) from mouse photoreceptors.

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

Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins.

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

A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy.

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.

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

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

Dysfunction of outer segment guanylate cyclase caused by retinal disease related mutations.

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

Dimerization Domain of Retinal Membrane Guanylyl Cyclase 1 (RetGC1) Is an Essential Part of Guanylyl Cyclase-activating Protein (GCAP) Binding Interface.

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

Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.

Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca(2+)-Dependent Cyclic GMP Synthesis.

GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone-rod dystrophy but not for stationary night blindness.

Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa.

Cloning and expression of a second photoreceptor-specific membrane retina guanylyl cyclase (RetGC), RetGC-2.

Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1.

The human photoreceptor membrane guanylyl cyclase, RetGC, is present in outer segments and is regulated by calcium and a soluble activator.

The membrane guanylyl cyclase, retinal guanylyl cyclase-1, is activated through its intracellular domain.

The photoreceptor guanylate cyclase is an autophosphorylating protein kinase.

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

Two eye guanylyl cyclases are expressed in the same photoreceptor cells and form homomers in preference to heteromers.

Catalytic mechanism of the adenylyl and guanylyl cyclases: modeling and mutational analysis.

Two amino acid substitutions convert a guanylyl cyclase, RetGC-1, into an adenylyl cyclase.

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

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

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

Inactivation, recovery and regulation of the phototransduction cascade

GUCYs converts GTP to cGMP

Retinal guanylyl cyclase 1

GUCY2D PTHR11920 target lineage, sequence and ancestral assertion evidence

GUCY2D donor, ontology, Reactome and primary-source evidence

UniProt record for GUCY2D (Q02846; GUC2D_HUMAN)