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Description for Protein GUCY2D

guanylate cyclase 2D, membrane (retina-specific)
5 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
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] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain
  • S_T_Y_Kinase: Protein kinase
  • unclassified specificity
  • CC: Coiled Coil
  • GuCyclase: Adenylyl-/guanylyl cyclase, catalytic domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    4.6.1.2
    KEGG - Orthology:
    K12321
    KEGG - Pathway(s):
    hsa00230; hsa04740; hsa04744
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    GUC2D; RETGC; RETGC1; Guanylate cyclase 2D, retinal; Rod outer segment membrane guanylate cyclase; ROS GC; GUC1A4; CORD6; Guanylate cyclase 2D, membrane
    Approved Symbol:
    GUCY2D
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Cone-rod dystrophy 6(Pd);
  • Leber congenital amaurosis, type 1(Pd);
  • Leber congenital amaurosis, type I(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 02550 Entrez Gene ID: 3000 OMIM ID: 600179 Swissprot Accession: Q02846;