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Description for Protein LBR

lamin B receptor
11 total interacting proteins; 7 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/1)
(membrane: 1; platelet: 1)
Summary:
The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • TUDOR: Tudor domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    LMN2R; Integral nuclear envelope inner membrane protein; PHA; p58; MGC9041; PRO0650
    Approved Symbol:
    LBR
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 13
    Human (de-) phosphorylation sites: 13; 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:

  • Greenberg dysplasia(Pd);
  • Pelger-Huet anomaly(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 8
  • Isoform 1 : 8
    • Additional Identifiers:

    HPRD: 02488 Entrez Gene ID: 3930 OMIM ID: 600024 Swissprot Accession: Q14739;