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Description for Protein USH2A

Usher syndrome 2A (autosomal recessive, mild)
2 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 protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • EGFLAM: Laminin-type epidermal growth factor-like domain
  • FN3: Fibronectin type 3 domain
  • LAMG: Laminin G domain
  • TSPN: Thrombospondin N-terminal -like domains.
  • LAMNT: Laminin N-terminal domain (domain VI)
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    USH2; US2; Usher syndrome 2A; dJ1111A8.1; Usherin isoform A; Usherin isoform B
    Approved Symbol:
    USH2A
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 6
    Human (de-) phosphorylation sites: 6; 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:

  • Retinitis pigmentosa, autosomal recessive, without hearing loss(Pd);
  • Usher syndrome, type IIA(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 1
  • Isoform 1 : 2
    • Additional Identifiers:

    HPRD: 09759 Entrez Gene ID: 7399 OMIM ID: 608400 Swissprot Accession: O75445;