Log in / Register

MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins

MGP001388

UniProt Annotations

Entry Information

Gene Name	guanylate cyclase 2D, membrane (retina-specific)
Protein Entry	GUC2D_HUMAN
UniProt ID	Q02846
Species	Human

Comments

Comment type	Description
Catalytic Activity	GTP = 3',5'-cyclic GMP + diphosphate.
Disease	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:0000269\|PubMed:12552567, ECO:0000269\|PubMed:15111605, ECO:0000269\|PubMed:18332321, ECO:0000269\|PubMed:18487367, ECO:0000269\|PubMed:20517349, ECO:0000269\|PubMed:21552474, ECO:0000269\|PubMed:22194653, ECO:0000269\|PubMed:23734073, ECO:0000269\|PubMed:24480840, ECO:0000269\|PubMed:9618177, ECO:0000269\|PubMed:9683616}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	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:0000269\|PubMed:11035546, ECO:0000269\|PubMed:12365911, ECO:0000269\|PubMed:17724218, ECO:0000269\|PubMed:21602930, ECO:0000269\|PubMed:8944027}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme Regulation	Activated by GCAP-1; inhibited by calcium.
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.
Similarity	Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. {ECO:0000255\|PROSITE-ProRule:PRU00099}.
Similarity	Contains 1 guanylate cyclase domain. {ECO:0000255\|PROSITE-ProRule:PRU00099}.
Similarity	Contains 1 protein kinase domain. {ECO:0000255\|PROSITE-ProRule:PRU00159}.
Subcellular Location	Membrane; Single-pass type I membrane protein.
Tissue Specificity	Retina. Localized exclusively in the nuclei and inner segments of the rod and cone photoreceptor cells.
Web Resource	Name=Mutations of the GUCY2D gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/gcmut.htm";