Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
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filamin B(FLNB) filamin B(FLNB) Related Genes Homo sapiens
CYTOBAND 3p14.3,
GENERIF_SUMMARY Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits, role in vertebral segmentation, joint formation and endochondral ossification, mutations cause four distinct disorders of skeletal development, We report the identification of mutations in FLNB in two unrelated individuals with boomerang dysplasia. The resultant substitutions, L171R and S235P, lie within the calponin homology 2 region of the actin binding domain and occur at conserved sites., Novel missense mutations within exon 2 and exon 3 of the FLNB gene are associated with atelosteogenesis I and III., Mutations within the FLNB gene is non-random, with clusters of mutations leading to substitutions in the actin-binding domain and filamin repeats 13-17 being the most common cause of Larsen syndrome., Spondylocarpotarsal synostosis syndrome in a patient with a causal FLNB mutation., ASB2 may regulate hematopoietic cell differentiation by modulating cell spreading and actin remodeling through targeting of filamins A and B for degradation., identifies filamin B as a molecular linker that mediates ICAM-1-driven transendothelial migration, These results establish a novel function of filamin B as a molecular scaffold in the JNK signaling pathway for type I IFN-induced apoptosis., FLNB and SBF2 are associated with human stature., anti-inflammatory activity of Serp-1 is mediated through modification of uPAR-linked beta-integrin and filamin B in monocytes, identifying this interaction as a central regulatory axis for inflammation, findings suggest common variants in FLNB have effects on bone structure in women. Although the location of variants having effects is not entirely consistent, variation at 5' end of the gene may reflect effects on levels of FLNB transcription efficiency, High-resolution X-ray crystal structures of the human filamin B wild type actin-binding domain, plus W148R and M202V mutants., Multiple single nucleotide polymorphisms and haplotypes in FLNB were significantly associated with bone mineral density, with the strongest association between lumbar spine BMD and rs9828717 (p = 0.005)., Maternal genes FLNB, HIC1 and ZNF189 were strongly associated with risk of clefting., these data demonstrate that coordinated expression of GPIbalpha and filamin is required for efficient trafficking of either protein to the cell surface, and for production of normal-sized platelets., skeletal dysplasias -associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity., study indicates that filamins are important regulators of polycystin-2 channel function, and further links actin cytoskeletal dynamics to the regulation of this channel protein, The structure reveals a new hinge in the linker region between actin binding domain (ABD) and the first filamin repeat that is ideally positioned to orient the ABD for actin binding., study presents two patients with Atelosteogenesis Type I caused by two novel Filamin B (FLNB) mutations affecting the same FLNB residue, VEGF and PKC promote degradation-independent protein ubiquitination of FLNB to control intracellular trafficking of HDAC7., Polymorphism at rs11720285, rs11130605 and rs9809315, all of which are located either 5' of the transcription start site or in intron 1 of the FLNB gene has been identified as significantly associated with BMD in Caucasian women., FLNb enhances invasion of cancer cells through phosphorylation of MRLC and FAK., F-actin clustering through the interaction with the mutant FLNB actin-binding domain may limit the cytoskeletal reorganization, preventing normal skeletal development.,
OMIM_DISEASE Atelosteogenesis, type I, Atelosteogenesis, type III, Boomerang dysplasia, Larsen syndrome, Spondylocarpotarsal synostosis syndrome,
SP_COMMENT disease:Defects in FLNB are the cause of atelosteogenesis type 1 (AO1) [MIM:108720]; also known as giant cell chondrodysplasia or spondylohumerofemoral hypoplasia. Atelosteogenesis are lethal short-limb skeletal dysplasias with vertebral abnormalities, disharmonious skeletal maturation, poorly modeled long bones and joint dislocations., disease:Defects in FLNB are the cause of atelosteogenesis type 3 (AO3) [MIM:108721]. Atelosteogenesis are short-limb lethal skeletal dysplasias with vertebral abnormalities, disharmonious skeletal maturation, poorly modeled long bones and joint dislocations. In AO3 recurrent respiratory insufficiency and/or infections usually result in early death., disease:Defects in FLNB are the cause of autosomal dominant Larsen syndrome (LRS1) [MIM:150250]. LRS1 is a genetically heterogeneous disorder characterized by multiple joint dislocations, craniofacial abnormalities and accessory carpal bones., disease:Defects in FLNB are the cause of boomerang dysplasia [MIM:112310]. This is a perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebre. Boomerang dysplasia is distinguished from atelosteogenesis on the basis of a more severe defect in mineralisation, with complete absence of ossification in some limb elements and vertebral segments., disease:Defects in FLNB are the cause of spondylocarpotarsal synostosis syndrome [MIM:272460]; also known as spondylocarpotarsal syndrome (SCT) or congenital synspondylism or vertebral fusion with carpal coalition or congenital scoliosis with unilateral unsegmented bar. The disorder is characterized by short stature and vertebral, carpal and tarsal fusions., disease:Interaction with FLNA may compensate for dysfunctional FLNA homodimer in the periventricular nodular heterotopia (PVNH) disorder., domain:Comprised of a NH2-terminal actin-binding domain, 24 internally homologous repeats and two hinge regions. Repeat 24 and the second hinge domain are important for dimer formation. The first hinge region prevents binding to ITGA and ITGB subunits., function: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., similarity:Belongs to the filamin family., similarity:Contains 1 actin-binding domain., similarity:Contains 2 CH (calponin-homology) domains., similarity:Contains 24 filamin repeats., subcellular location:In differentiating myotubes, isoform 1, isoform 2 and isoform 3 are localized diffusely throughout the cytoplasm with regions of enrichment at the longitudinal actin stress fiber. In differentiated tubes, isoform 1 is also detected within the Z-lines., subcellular location:Polarized at the periphery of myotubes., subcellular location:Predominantly localized at actin stress fibers., subunit:Homodimer. Isoform 1 interacts with FBLP1, FLNA, FLNC, GP1BA, INPPL1, ITGB1A, PSEN1 and PSEN2. Isoform 3 interacts with ITGB1A, ITGB1D, ITGB3 and ITGB6. Interacts with MYOT and MYOZ1. Interacts with HBV capsid protein., tissue specificity:Ubiquitous. Isoform 1 and isoform 2 are expressed in placenta, bone marrow, brain, umbilical vein endothelial cells (HUVEC), retina and skeletal muscle. Isoform 1 is predominantly expressed in prostate, uterus, liver, thyroid, stomach, lymph node, small intestine, spleen, skeletal muscle, kidney, placenta, pancreas, heart, lung, platelets, endothelial cells, megakaryocytic and erythroleukemic cell lines. Isoform 2 is predominantly expressed in spinal cord, platelet and Daudi cells. Also expressed in thyroid adenoma, neurofibrillary tangles (NFT), senile plaques in the hippocampus and cerebral cortex in Alzheimer disease (AD). Isoform 3 and isoform 6 are expressed predominantly in lung, heart, skeletal muscle, testis, spleen, thymus and leukocytes. Isoform 4 and isoform 5 are expressed in heart.,