InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-27561

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

ENSMUSG00000020890

View Gene Order

ENSBTAG00000008773

Not yet available

Pathways

NETPATH

REACTOME

REACT_111102

Signal Transduction pathway

REACT_160102

Diseases associated with visual transduction pathway

REACT_160125

Visual phototransduction pathway

REACT_163722

The phototransduction cascade pathway

REACT_163919

Inactivation, recovery and regulation of the phototransduction cascade pathway

REACT_116125

Disease pathway

KEGG

hsa04740

Olfactory transduction pathway

hsa00230

Purine metabolism pathway

hsa04744

Phototransduction pathway

INOH

INOH website

Purine nucleotides nucleosides metabolism pathway

PID NCI

cone_pathway

Visual signal transduction: Cones

rhodopsin_pathway

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

IMGT

EMBL

AJ222657 L26921 M92432

GenPept

AAA60366 AAA60547 CAA10914

RNA Seq Atlas

3000