Homo sapiens Gene: GUCY2D
Summary
InnateDB Gene IDBG-27557.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GUCY2D
Gene Name guanylate cyclase 2D, membrane (retina-specific)
Synonyms CORD5; CORD6; CYGD; GUC1A4; GUC2D; LCA; LCA1; RCD2; retGC; RETGC-1; ROS-GC1; ROSGC;
Species Homo sapiens
Ensembl Gene ENSG00000132518
Encoded Proteins
guanylate cyclase 2D, membrane (retina-specific)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez 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. [provided by RefSeq, Dec 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:8002594-8020339
Strand Forward strand
Band p13.1
Transcripts
ENST00000254854 ENSP00000254854
ENST00000574510
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004383 guanylate cyclase activity
GO:0004672 protein kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0004872 receptor activity
GO:0005524 ATP binding
GO:0005525 GTP binding
GO:0016772 transferase activity, transferring phosphorus-containing groups
GO:0016849 phosphorus-oxygen lyase activity
Biological Process
GO:0006182 cGMP biosynthetic process
GO:0006468 protein phosphorylation
GO:0007168 receptor guanylyl cyclase signaling pathway
GO:0007601 visual perception
GO:0007603 phototransduction, visible light
GO:0009190 cyclic nucleotide biosynthetic process
GO:0016056 rhodopsin mediated signaling pathway
GO:0022400 regulation of rhodopsin mediated signaling pathway
GO:0035556 intracellular signal transduction
Cellular Component
GO:0005640 nuclear outer membrane
GO:0005887 integral component of plasma membrane
GO:0097381 photoreceptor disc membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Signal Transduction pathway
Diseases associated with visual transduction pathway
Visual phototransduction pathway
The phototransduction cascade pathway
Inactivation, recovery and regulation of the phototransduction cascade pathway
Disease pathway
KEGG
Purine metabolism pathway
Olfactory transduction pathway
Phototransduction pathway
INOH
Purine nucleotides nucleosides metabolism pathway
PID BIOCARTA
Actions of nitric oxide in the heart [Biocarta view]
PID NCI
Visual signal transduction: Cones
Visual signal transduction: Rods
Cross-References
SwissProt Q02846
TrEMBL
UniProt Splice Variant
Entrez Gene 3000
UniGene Hs.592109
RefSeq NM_000180
HUGO HGNC:4689
OMIM 600179
CCDS CCDS11127
HPRD 02550
IMGT
EMBL AJ222657 L26921 M92432
GenPept AAA60366 AAA60547 CAA10914
RNA Seq Atlas 3000