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Description for Protein FLNB

filamin B, beta
15 total interacting proteins; 8 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 5/2)
(membrane: 1; platelet: 5; undefined: 1)
Summary:
This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CH: Calponin homology domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04437
    KEGG - Pathway(s):
    hsa04010; hsa04510
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Filamin B, beta (actin binding protein 278); Beta filamin; Filamin B, beta; Filamin 1 (actin-binding protein-280)-like; Actin-binding like protein; Thyroid autoantigen; Truncated actin-binding protein; ABP-278; FH1; Actin-binding protein 276/278; ABP276/278 truncated actin-binding protein; TASP; TAP; FLN1L; FNL1L
    Approved Symbol:
    FLNB
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 82
    Human (de-) phosphorylation sites: 82; 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:

  • Atelosteogenesis, type I(Pd);
  • Atelosteogenesis, type III(Pd);
  • Boomerang dysplasia(Pd);
  • Larsen syndrome, autosomal dominant(Pd);
  • Spondylocarpotarsal synostosis syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 04543 Entrez Gene ID: 2317 OMIM ID: 603381 Swissprot Accession: O75369; B2ZZ85; B2ZZ83;