Recombinant Human Filamin-B (FLNB), partial

1. In conclusion, the authors identify filamin B as a novel host factor that can interact with core protein to promote hepatitis B virus replication in hepatocytes. PMID:29594956
2. We report the case of a male patient with Larsen syndrome found to be mosaic for a novel point mutation in FLNB in whom it was possible to provide evidence-based personalized counseling on transmission risk to future offspring. Using dideoxy sequencing, a low-level FLNB c.698A>G, encoding p.(Tyr233Cys) mutation was detected in buccal mucosa and fibroblast DNA. PMID:28639312
3. This is the first identified mutation in the dimerization domain of FLNB. This loss-of-function frameshift mutation in FLNB causes autosomal-recessive SCT with rarely reported rib anomalies. This report demonstrates the involvement of rib anomaly in SCT and its causative mutation in the dimerization domain of FLNB. PMID:28145000
4. Our results provide evidence for the involvement of FLNB in the pathogenesis of isolated Congenital talipes equinovarusand have expanded the clinical spectrum of FLNB mutations. PMID:27395407
5. splicing variants of FLNB are differentially expressed in giant cell tumor cells and may play a role in the proliferation and differentiation of tumor cells. PMID:27779699
6. F-actin clustering through the interaction with the mutant FLNB actin-binding domain may limit the cytoskeletal reorganization, preventing normal skeletal development. PMID:26491051
7. FLNb enhances invasion of cancer cells through phosphorylation of MRLC and FAK. PMID:25925610
8. 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. PMID:24176111
9. study presents two patients with Atelosteogenesis Type I caused by two novel Filamin B (FLNB) mutations affecting the same FLNB residue: c.542G > A, predicting p.Gly181Asp and c.542G > C, predicting p.Gly181Arg PMID:23401428
10. VEGF and PKC promote degradation-independent protein ubiquitination of FLNB to control intracellular trafficking of HDAC7. PMID:23401860
11. 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. PMID:23036857
12. skeletal dysplasias -associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity. PMID:22190451
13. 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). PMID:19727905
14. Maternal genes FLNB, HIC1 and ZNF189 were strongly associated with risk of clefting. PMID:20634891
15. 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 PMID:19453265
16. Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits PMID:11807098
17. role in vertebral segmentation, joint formation and endochondral ossification PMID:14991055
18. mutations cause four distinct disorders of skeletal development PMID:15054484
19. 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. PMID:15994868
20. Novel missense mutations within exon 2 and exon 3 of the FLNB gene are associated with atelosteogenesis I and III. PMID:16752402
21. 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. PMID:16801345
22. Spondylocarpotarsal synostosis syndrome in a patient with a causal FLNB mutation. PMID:18257094
23. identifies filamin B as a molecular linker that mediates ICAM-1-driven transendothelial migration PMID:18809679
24. These results establish a novel function of filamin B as a molecular scaffold in the JNK signaling pathway for type I IFN-induced apoptosis. PMID:18815275
25. FLNB and SBF2 are associated with human stature. PMID:19039035
26. 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 PMID:19052145
27. High-resolution X-ray crystal structures of the human filamin B wild type actin-binding domain, plus W148R and M202V mutants. PMID:19505475

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[Isoform 1]: Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, stress fiber. Cytoplasm, myofibril, sarcomere, Z line. Note=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.; [Isoform 2]: Cytoplasm, cytoskeleton, stress fiber.; [Isoform 3]: Cytoplasm, cytoskeleton, stress fiber.; [Isoform 6]: Cytoplasm, cytoskeleton. Note=Polarized at the periphery of myotubes.

Filamin family

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 i

HGNC: 3755

UNIGENE: Hs.476448

KEGG: hsa:2317

STRING: 9606.ENSP00000420213

OMIM: 108720