GUCY2D guanylate cyclase 2D, retinal

Gene ID: 3000, updated on 28-Oct-2024
Gene type: protein coding
Also known as: LCA; CACD; CG-E; CYGD; LCA1; RCD2; CACD1; CORD5; CORD6; GUC2D; ROSGC; retGC; CSNB1I; GUC1A4; RETGC-1; ROS-GC1

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. [provided by RefSeq, Dec 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Choroidal dystrophy, central areolar, 1 MedGen: C4551884OMIM: 215500GeneReviews: Not available	See labs
Cone-rod dystrophy 6 MedGen: C1866293OMIM: 601777GeneReviews: Not available	See labs
Leber congenital amaurosis 1 MedGen: C2931258OMIM: 204000GeneReviews: Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview	See labs
Night blindness, congenital stationary, type1i MedGen: C5231408OMIM: 618555GeneReviews: Not available	See labs

Genomic context

Location:: 17p13.1

Sequence:: Chromosome: 17; NC_000017.11 (8002615..8020342)

Total number of exons:: 20

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for GUCY2D variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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