Aliases for FLNB Gene
External Ids for FLNB Gene
Previous HGNC Symbols for FLNB Gene
Previous GeneCards Identifiers for FLNB Gene
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, Nov 2009]
GeneCards Summary for FLNB Gene
FLNB (Filamin B) is a Protein Coding gene. Diseases associated with FLNB include Larsen Syndrome and Boomerang Dysplasia. Among its related pathways are Focal Adhesion and Proteoglycans in cancer. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is FLNC.
UniProtKB/Swiss-Prot Summary for FLNB Gene
Connects cell membrane constituents to the actin cytoskeleton. May promote orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Various interactions and localizations of isoforms affect myotube morphology and myogenesis. Isoform 6 accelerates muscle differentiation in vitro.