Property Summary

NCBI Gene PubMed Count 64
PubMed Score 775.52
PubTator Score 336.94

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
glioblastoma 1.300 1.1e-03
posterior fossa group B ependymoma 2.200 3.6e-10
cystic fibrosis -1.058 1.3e-04
non diabetic and post-ischemic heart fai... -1.500 1.2e-02
colon cancer -2.200 2.4e-04
adult high grade glioma 1.500 8.6e-04
pilocytic astrocytoma 1.100 9.0e-03
sonic hedgehog group medulloblastoma 2.000 3.8e-05
invasive ductal carcinoma -1.024 9.3e-03
ovarian cancer -2.600 1.2e-15
psoriasis -1.600 1.6e-41

Gene RIF (32)

PMID Text
25577646 Findings indicate a functional role of filamin C in cancers.
25351925 Mutations in the gene encoding the sarcomeric protein filamin C cause a new form of familial hypertrophic cardiomyopathy.
25110951 alpha2C-adrenoreceptor interaction with filamin-2
24963132 Aciculin interacts with filamin C and Xin and is essential for myofibril assembly.
24469451 Crystal Structures of FLNa Domains 3-5 and FLNc Domains 4-5 Show a Novel Domain-Domain Organization.
24349473 By integrating our WES and CN data we identified three mutated putative candidate genes targeted by 7q deletions (CUL1, EZH2 and FLNC), with FLNC positioned within the well-characterized 7q minimally deleted region.
23864608 these studies extend previous findings to show that functional rescue of alpha2C-ARs is mediated through Rap1-filamin signaling. Perturbation of this signaling pathway may lead to alterations in alpha2C-AR trafficking and physiological function.
23292007 Increased methylation levels of FLNC is associated with highly active Helicobacter pylori-related gastritis.
23238331 FLNC/filamin C mutations cause protein degradation in myofibrillar myopathy
22802962 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
22131542 We conclude that filamin C is a dosage-sensitive gene and that FLNC haploinsufficiency can cause a specific type of myopathy in humans.
21620354 filamin C ABD mutations cause a recognizable distal myopathy, most likely through increased actin affinity, similar to the pathological mechanism of filamin A and filamin B ABD mutations.
20732627 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20417099 We present a Chinese family with filaminopathy with progressive muscle weakness in all limbs with a deletion-insertion mutation in exon 18 of the filamin C
19913121 Observational study of gene-disease association. (HuGE Navigator)
19472918 A large number of variations were found in many of the genes (myozenin 1, gamma-filamin, kinectin-1) in patients with limb-girdle muscular dystrophies and controls.
19472918 Observational study of gene-disease association. (HuGE Navigator)
19366992 HIV-1 gp120 promotes filamin binding to both CD4 and CXCR4
19151983 Data show that in myofibrillar myopathies filamin C exhibites significant alterations in their localization.
19050726 Results suggest that the novel p.Val930_Thr933del mutation in filamin C is the cause of MFM but also indicate that filamin C mutations are a comparatively rare cause of MFM.
17987659 filamin-C, a known component of striated muscle Z-lines, interacts with nebulette modules
17825253 Taken together, our data suggest that p73alpha is sequestered in the cytoplasm by filamin A, thereby inhibiting its transcriptional activity.
17412757 The mutant dimerization domain of filamin C is less stable and more susceptible to proteolysis. As a consequence, it does not dimerize properly and forms aggregates in vitro.
17379241 The crystal structure of domain 23 of filamin C showed that the protein adopts the expected immunoglobulin (Ig)-like fold. A dimer is formed by domain 24; domain 23 has little interactions with itself or with domain 24.
17174070 These observations start to define the basis for PI3K regulation of filamin through LL5beta.
15929027 a mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy
15461588 results identify the muscle-specific isoform FLNc as a new physiological substrate for PKB
15159586 gamma filamin has one molecule, with predominantly beta secondary-structure elements, per asymmetric unit
14506720 calpain 3 can cleave filamin C (FLNC); FLNC may be substrate for calpain 3, regulating protein-protein interactions with sarcoglycans
12480088 Accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle myopathies.
12119179 HIV-1 gp120 promotes filamin binding to both CD4 and CXCR4

AA Sequence

MMNNSGYSDAGLGLGDETDEMPSTEKDLAEDAPWKKIQQNTFTRWCNEHLKCVGKRLTDLQRDLSDGLRL      1 - 70
IALLEVLSQKRMYRKFHPRPNFRQMKLENVSVALEFLEREHIKLVSIDSKAIVDGNLKLILGLIWTLILH     71 - 140
YSISMPMWEDEDDEDARKQTPKQRLLGWIQNKVPQLPITNFNRDWQDGKALGALVDNCAPGLCPDWEAWD    141 - 210
PNQPVENAREAMQQADDWLGVPQVIAPEEIVDPNVDEHSVMTYLSQFPKAKLKPGAPVRSKQLNPKKAIA    211 - 280
YGPGIEPQGNTVLQPAHFTVQTVDAGVGEVLVYIEDPEGHTEEAKVVPNNDKDRTYAVSYVPKVAGLHKV    281 - 350
TVLFAGQNIERSPFEVNVGMALGDANKVSARGPGLEPVGNVANKPTYFDIYTAGAGTGDVAVVIVDPQGR    351 - 420
RDTVEVALEDKGDSTFRCTYRPAMEGPHTVHVAFAGAPITRSPFPVHVSEACNPNACRASGRGLQPKGVR    421 - 490
VKEVADFKVFTKGAGSGELKVTVKGPKGTEEPVKVREAGDGVFECEYYPVVPGKYVVTITWGGYAIPRSP    491 - 560
FEVQVSPEAGVQKVRAWGPGLETGQVGKSADFVVEAIGTEVGTLGFSIEGPSQAKIECDDKGDGSCDVRY    561 - 630
WPTEPGEYAVHVICDDEDIRDSPFIAHILPAPPDCFPDKVKAFGPGLEPTGCIVDKPAEFTIDARAAGKG    631 - 700
DLKLYAQDADGCPIDIKVIPNGDGTFRCSYVPTKPIKHTIIISWGGVNVPKSPFRVNVGEGSHPERVKVY    701 - 770
GPGVEKTGLKANEPTYFTVDCSEAGQGDVSIGIKCAPGVVGPAEADIDFDIIKNDNDTFTVKYTPPGAGR    771 - 840
YTIMVLFANQEIPASPFHIKVDPSHDASKVKAEGPGLNRTGVEVGKPTHFTVLTKGAGKAKLDVQFAGTA    841 - 910
KGEVVRDFEIIDNHDYSYTVKYTAVQQGNMAVTVTYGGDPVPKSPFVVNVAPPLDLSKIKVQGLNSKVAV    911 - 980
GQEQAFSVNTRGAGGQGQLDVRMTSPSRRPIPCKLEPGGGAEAQAVRYMPPEEGPYKVDITYDGHPVPGS    981 - 1050
PFAVEGVLPPDPSKVCAYGPGLKGGLVGTPAPFSIDTKGAGTGGLGLTVEGPCEAKIECQDNGDGSCAVS   1051 - 1120
YLPTEPGEYTINILFAEAHIPGSPFKATIRPVFDPSKVRASGPGLERGKVGEAATFTVDCSEAGEAELTI   1121 - 1190
EILSDAGVKAEVLIHNNADGTYHITYSPAFPGTYTITIKYGGHPVPKFPTRVHVQPAVDTSGVKVSGPGV   1191 - 1260
EPHGVLREVTTEFTVDARSLTATGGNHVTARVLNPSGAKTDTYVTDNGDGTYRVQYTAYEEGVHLVEVLY   1261 - 1330
DEVAVPKSPFRVGVTEGCDPTRVRAFGPGLEGGLVNKANRFTVETRGAGTGGLGLAIEGPSEAKMSCKDN   1331 - 1400
KDGSCTVEYIPFTPGDYDVNITFGGRPIPGSPFRVPVKDVVDPGKVKCSGPGLGAGVRARVPQTFTVDCS   1401 - 1470
QAGRAPLQVAVLGPTGVAEPVEVRDNGDGTHTVHYTPATDGPYTVAVKYADQEVPRSPFKIKVLPAHDAS   1471 - 1540
KVRASGPGLNASGIPASLPVEFTIDARDAGEGLLTVQILDPEGKPKKANIRDNGDGTYTVSYLPDMSGRY   1541 - 1610
TITIKYGGDEIPYSPFRIHALPTGDASKCLVTVSIGGHGLGACLGPRIQIGQETVITVDAKAAGEGKVTC   1611 - 1680
TVSTPDGAELDVDVVENHDGTFDIYYTAPEPGKYVITIRFGGEHIPNSPFHVLACDPLPHEEEPSEVPQL   1681 - 1750
RQPYAPPRPGARPTHWATEEPVVPVEPMESMLRPFNLVIPFAVQKGELTGEVRMPSGKTARPNITDNKDG   1751 - 1820
TITVRYAPTEKGLHQMGIKYDGNHIPGSPLQFYVDAINSRHVSAYGPGLSHGMVNKPATFTIVTKDAGEG   1821 - 1890
GLSLAVEGPSKAEITCKDNKDGTCTVSYLPTAPGDYSIIVRFDDKHIPGSPFTAKITGDDSMRTSQLNVG   1891 - 1960
TSTDVSLKITESDLSQLTASIRAPSGNEEPCLLKRLPNRHIGISFTPKEVGEHVVSVRKSGKHVTNSPFK   1961 - 2030
ILVGPSEIGDASKVRVWGKGLSEGHTFQVAEFIVDTRNAGYGGLGLSIEGPSKVDINCEDMEDGTCKVTY   2031 - 2100
CPTEPGTYIINIKFADKHVPGSPFTVKVTGEGRMKESITRRRQAPSIATIGSTCDLNLKIPGNWFQMVSA   2101 - 2170
QERLTRTFTRSSHTYTRTERTEISKTRGGETKREVRVEESTQVGGDPFPAVFGDFLGRERLGSFGSITRQ   2171 - 2240
QEGEASSQDMTAQVTSPSGKVEAAEIVEGEDSAYSVRFVPQEMGPHTVAVKYRGQHVPGSPFQFTVGPLG   2241 - 2310
EGGAHKVRAGGTGLERGVAGVPAEFSIWTREAGAGGLSIAVEGPSKAEIAFEDRKDGSCGVSYVVQEPGD   2311 - 2380
YEVSIKFNDEHIPDSPFVVPVASLSDDARRLTVTSLQETGLKVNQPASFAVQLNGARGVIDARVHTPSGA   2381 - 2450
VEECYVSELDSDKHTIRFIPHENGVHSIDVKFNGAHIPGSPFKIRVGEQSQAGDPGLVSAYGPGLEGGTT   2451 - 2520
GVSSEFIVNTLNAGSGALSVTIDGPSKVQLDCRECPEGHVVTYTPMAPGNYLIAIKYGGPQHIVGSPFKA   2521 - 2590
KVTGPRLSGGHSLHETSTVLVETVTKSSSSRGSSYSSIPKFSSDASKVVTRGPGLSQAFVGQKNSFTVDC   2591 - 2660
SKAGTNMMMVGVHGPKTPCEEVYVKHMGNRVYNVTYTVKEKGDYILIVKWGDESVPGSPFKVKVP        2661 - 2725
//

Text Mined References (73)

PMID Year Title
25577646 2015 Filamin C, a dysregulated protein in cancer revealed by label-free quantitative proteomic analyses of human gastric cancer cells.
25351925 2014 Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.
25110951 2014 In silico modeling of human ?2C-adrenoreceptor interaction with filamin-2.
24963132 2014 Aciculin interacts with filamin C and Xin and is essential for myofibril assembly, remodeling and maintenance.
24469451 2014 A novel structural unit in the N-terminal region of filamins.
24349473 2013 Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23864608 2013 Cyclic AMP-Rap1A signaling mediates cell surface translocation of microvascular smooth muscle ?2C-adrenoceptors through the actin-binding protein filamin-2.
23414517 2013 A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.
23292007 2013 Altered mucosal DNA methylation in parallel with highly active Helicobacter pylori-related gastritis.
23238331 2013 Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22972877 2012 F-box and leucine-rich repeat protein 22 is a cardiac-enriched F-box protein that regulates sarcomeric protein turnover and is essential for maintenance of contractile function in vivo.
22802962 2012 Structural interaction and functional regulation of polycystin-2 by filamin.
22131542 2011 Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency.
21620354 2011 Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
21423176 2011 Analysis of the myosin-II-responsive focal adhesion proteome reveals a role for ?-Pix in negative regulation of focal adhesion maturation.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
21223964 2011 Novel interactions of ankyrins-G at the costameres: the muscle-specific Obscurin/Titin-Binding-related Domain (OTBD) binds plectin and filamin C.
20732627 2010 Case-control genome-wide association study of attention-deficit/hyperactivity disorder.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20578970 2010 DNA sequencing errors in molecular diagnostics of filamin myopathy.
20417099 2010 A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19472918 2008 Candidate-gene testing for orphan limb-girdle muscular dystrophies.
19369195 2009 Large-scale proteomics analysis of the human kinome.
19151983 2009 Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.
19074766 2009 Migfilin, a molecular switch in regulation of integrin activation.
19050726 2009 In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
18487259 2008 Fine expression profiling of full-length transcripts using a size-unbiased cDNA library prepared with the vector-capping method.
18088087 2008 Phosphoproteome of resting human platelets.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17987659 2008 Nebulette interacts with filamin C.
17825253 2007 Filamin A negatively regulates the transcriptional activity of p73alpha in the cytoplasm.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
17412757 2007 The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy.
17379241 2007 Crystal structure of human filamin C domain 23 and small angle scattering model for filamin C 23-24 dimer.
17174070 2007 Structural determinants of LL5beta subcellular localisation and association with filamin C.
16631741 2006 Unusual splicing events result in distinct Xin isoforms that associate differentially with filamin c and Mena/VASP.
16501887 2006 The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins.
16076904 2005 The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins.
15929027 2005 A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.
15642266 2005 Structural basis for vertebrate filamin dimerization.
15461588 2004 Identification of filamin C as a new physiological substrate of PKBalpha using KESTREL.
15159586 2004 Cloning, expression, purification, crystallization and preliminary crystallographic analysis of gamma-filamin repeat 23.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14506720 2003 Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans.
12853948 2003 The DNA sequence of human chromosome 7.
12679033 2003 Migfilin and Mig-2 link focal adhesions to filamin and the actin cytoskeleton and function in cell shape modulation.
12525170 2003 The limits of promiscuity: isoform-specific dimerization of filamins.
12480088 2003 Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle.
12438262 2002 Identification of silencing of nine genes in human gastric cancers.
12393796 2002 Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact.
12376540 2003 LL5beta is a phosphatidylinositol (3,4,5)-trisphosphate sensor that can bind the cytoskeletal adaptor, gamma-filamin.
12006559 2002 Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity.
11842093 2002 Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins.
11739414 2001 The SH2-containing inositol polyphosphate 5-phosphatase, SHIP-2, binds filamin and regulates submembraneous actin.
11252955 2001 Filamins as integrators of cell mechanics and signalling.
11171996 2001 Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines.
11153914 2000 Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family.
11102480 2000 Localization and enhanced current density of the Kv4.2 potassium channel by interaction with the actin-binding protein filamin.
11038172 2000 Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin.
10984498 2000 FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle.
10658210 2000 Characterization of muscle filamin isoforms suggests a possible role of gamma-filamin/ABP-L in sarcomeric Z-disc formation.
10629222 2000 Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein.
9791010 1998 Molecular cloning of human ABPL, an actin-binding protein homologue.
9694715 1998 A novel human actin-binding protein homologue that binds to platelet glycoprotein Ibalpha.
9412467 1997 Cytoskeletal protein ABP-280 directs the intracellular trafficking of furin and modulates proprotein processing in the endocytic pathway.
9006895 1997 Actin-binding protein-280 binds the stress-activated protein kinase (SAPK) activator SEK-1 and is required for tumor necrosis factor-alpha activation of SAPK in melanoma cells.
8681137 1996 Identification of 4370 expressed sequence tags from a 3'-end-specific cDNA library of human skeletal muscle by DNA sequencing and filter hybridization.
8088838 1994 Comparative mapping of the actin-binding protein 280 genes in human and mouse.
7689010 1993 Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7.