InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GUCY2D

Summary

InnateDB Protein

IDBP-27561.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GUCY2D

Protein 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 Protein

ENSP00000254854

InnateDB Gene

IDBG-27557 (GUCY2D)

Protein Structure

UniProt Annotation

Function

Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction.

Subcellular Localization

Membrane; Single-pass type I membrane protein.

Disease Associations

Leber congenital amaurosis 1 (LCA1) [MIM:204000]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269PubMed:11035546, ECO:0000269PubMed:12365911, ECO:0000269PubMed:17724218, ECO:0000269PubMed:21602930, ECO:0000269PubMed:8944027}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cone-rod dystrophy 6 (CORD6) [MIM:601777]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269PubMed:12552567, ECO:0000269PubMed:9618177, ECO:0000269PubMed:9683616}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Retina. Localized exclusively in the nuclei and inner segments of the rod and cone photoreceptor cells.

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR000719 Protein kinase domain
IPR001054 Adenylyl cyclase class-3/4/guanylyl cyclase
IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
IPR001828 Extracellular ligand-binding receptor
IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain
IPR011009 Protein kinase-like domain
IPR011645 Haem NO binding associated
IPR020635 Tyrosine-protein kinase, catalytic domain
IPR028082 Periplasmic binding protein-like I
IPR029787 Nucleotide cyclase

PFAM

PF00069
PF00211
PF07714
PF01094
PF07701

PRINTS

PR00109

PIRSF

SMART

SM00044
SM00220
SM00219

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt