ID:FLNC_HUMAN DESCRIPTION: RecName: Full=Filamin-C; Short=FLN-C; Short=FLNc; AltName: Full=ABP-280-like protein; AltName: Full=ABP-L; AltName: Full=Actin-binding-like protein; AltName: Full=Filamin-2; AltName: Full=Gamma-filamin; FUNCTION: Muscle-specific filamin, which plays a central role in muscle cells, probably by functioning as a large actin-cross- linking protein. May be involved in reorganizing the actin cytoskeleton in response to signaling events, and may also display structural functions at the Z lines in muscle cells. Critical for normal myogenesis and for maintaining the structural integrity of the muscle fibers. SUBUNIT: Homodimer. Interacts with KY. Interacts with IGFN1 (By similarity). Interacts with FLNB, KCND2, ITGB1A, INPPL1, MYOT, MYOZ1 and MYOZ3. Interacts with sarcoglycans SGCD and SGCG. Interacts (via filament repeats 17-18, 20-21 and 24) with USP25 (isoform USP25m only). Interacts with FBLIM1. INTERACTION: P00519:ABL1; NbExp=2; IntAct=EBI-489954, EBI-375543; P46108:CRK; NbExp=2; IntAct=EBI-489954, EBI-886; O75923:DYSF; NbExp=3; IntAct=EBI-489954, EBI-2799016; P62993:GRB2; NbExp=2; IntAct=EBI-489954, EBI-401755; Q9UBF9:MYOT; NbExp=6; IntAct=EBI-489954, EBI-296701; SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Note=A small amount localizes at membranes. In striated muscle cells, it predominantly localizes in myofibrillar Z lines, while a minor fraction localizes with subsarcolemme. TISSUE SPECIFICITY: Highly expressed in striated muscles. Weakly expressed in thyroid, fetal brain, fetal lung, retina, spinal cord and bone marrow. Not expressed in testis, pancreas, adrenal gland, placenta, liver and kidney. DEVELOPMENTAL STAGE: Expressed in both differentiating and adult muscles. DOMAIN: The intradomain insert is specific to FLNC and mediates the targeting to developing and mature Z lines. 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. DOMAIN: The filamin 20 repeat mediates interaction with XIRP1. DISEASE: Defects in FLNC are the cause of myopathy myofibrillar type 5 (MFM5) [MIM:609524]. A neuromuscular disorder, usually with an adult onset, characterized by focal myofibrillar destruction and pathological cytoplasmic protein aggregations, and clinical features of a limb-girdle myopathy. DISEASE: Defects in FLNC are the cause of myopathy distal type 4 (MPD4) [MIM:614065]. MPD4 is a slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows non-specific changes with no evidence of rods, necrosis, or inflammation. MISCELLANEOUS: Silenced in MKN28 and MKN74 gastric cancer cell lines due to aberrant methylation of the gene. SIMILARITY: Belongs to the filamin family. SIMILARITY: Contains 1 actin-binding domain. SIMILARITY: Contains 2 CH (calponin-homology) domains. SIMILARITY: Contains 24 filamin repeats. SEQUENCE CAUTION: Sequence=AAD12245.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAF68195.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAF80245.1; Type=Frameshift; Positions=2578, 2580, 2590; Sequence=CAA49688.1; Type=Frameshift; Positions=778, 787; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FLNC";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q14315
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
