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Gene Gene information from NCBI Gene database.
Entrez ID 2318
Gene name Filamin C
Gene symbol FLNC
Synonyms (NCBI Gene)
ABP-280ABP280AABPAABPLARVC15CMH26FLN2MFM5MPD4RCM5
Chromosome 7
Chromosome location 7q32.1
Summary This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskele
SNPs SNP information provided by dbSNP.
73
SNP ID Visualize variation Clinical significance Consequence
rs111452612 G>A,C Likely-pathogenic Splice donor variant
rs111806457 T>A,G Likely-pathogenic Splice donor variant
rs112194548 C>T Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs112903432 T>C,G Likely-pathogenic Splice donor variant
rs113972676 T>A,C Likely-pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
161
miRTarBase ID miRNA Experiments Reference
MIRT024106 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT039242 hsa-miR-454-3p CLASH 23622248
MIRT998844 hsa-miR-3675-5p CLIP-seq
MIRT998845 hsa-miR-486-3p CLIP-seq
MIRT998846 hsa-miR-1231 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 11038172, 16076904, 16631741, 17360532, 17474147, 21223964, 22972877, 33961781
GO:0005737 Component Cytoplasm IDA 12393796, 25351925
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
102565 3756 ENSG00000128591
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14315
Protein name Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (ABP-L) (Actin-binding-like protein) (Filamin-2) (Gamma-filamin)
Protein function Muscle-specific filamin, which plays a central role in sarcomere assembly and organization (PubMed:34405687). Critical for normal myogenesis, it probably functions as a large actin-cross-linking protein with structural functions at the Z lines i
PDB 1V05 , 2D7M , 2D7N , 2D7O , 2D7P , 2D7Q , 2K9U , 2NQC , 3V8O , 4MGX , 7OUU , 7OUV , 7P0E , 8PA0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00307 CH 36 143 Calponin homology (CH) domain Domain
PF00307 CH 159 263 Calponin homology (CH) domain Domain
PF00630 Filamin 272 365 Filamin/ABP280 repeat Domain
PF00630 Filamin 372 465 Filamin/ABP280 repeat Domain
PF00630 Filamin 471 562 Filamin/ABP280 repeat Domain
PF00630 Filamin 568 655 Filamin/ABP280 repeat Domain
PF00630 Filamin 664 755 Filamin/ABP280 repeat Domain
PF00630 Filamin 761 858 Filamin/ABP280 repeat Domain
PF00630 Filamin 864 957 Filamin/ABP280 repeat Domain
PF00630 Filamin 963 1053 Filamin/ABP280 repeat Domain
PF00630 Filamin 1059 1146 Filamin/ABP280 repeat Domain
PF00630 Filamin 1152 1241 Filamin/ABP280 repeat Domain
PF00630 Filamin 1247 1341 Filamin/ABP280 repeat Domain
PF00630 Filamin 1347 1434 Filamin/ABP280 repeat Domain
PF00630 Filamin 1440 1530 Filamin/ABP280 repeat Domain
PF00630 Filamin 1536 1627 Filamin/ABP280 repeat Domain
PF00630 Filamin 1633 1731 Filamin/ABP280 repeat Domain
PF00630 Filamin 1773 1851 Filamin/ABP280 repeat Domain
PF00630 Filamin 1856 1943 Filamin/ABP280 repeat Domain
PF00630 Filamin 2038 2125 Filamin/ABP280 repeat Domain
PF00630 Filamin 2205 2303 Filamin/ABP280 repeat Domain
PF00630 Filamin 2311 2398 Filamin/ABP280 repeat Domain
PF00630 Filamin 2406 2493 Filamin/ABP280 repeat Domain
PF00630 Filamin 2502 2589 Filamin/ABP280 repeat Domain
PF00630 Filamin 2632 2721 Filamin/ABP280 repeat Domain
Tissue specificity 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. {ECO:0000269|PubMed:11038172
Sequence
MMNNSGYSDAGLGLGDETDEMPSTEKDLAEDAPWKKIQQNTFTRWCNEHLKCVGKRLTDL
QRDLSDGLRLIALLEVLSQKRMYRKFHPRPNFRQMKLENVSVALEFLEREHIKLVSIDSK
AIVDGNLKLILGLIWTLILHYSI
SMPMWEDEDDEDARKQTPKQRLLGWIQNKVPQLPITN
FNRDWQDGKALGALVDNCAPGLCPDWEAWDPNQPVENAREAMQQADDWLGVPQVIAPEEI
VDPNVDEHSVMTYLSQFPKAKLK
PGAPVRSKQLNPKKAIAYGPGIEPQGNTVLQPAHFTV
QTVDAGVGEVLVYIEDPEGHTEEAKVVPNNDKDRTYAVSYVPKVAGLHKVTVLFAGQNIE
RSPFE
VNVGMALGDANKVSARGPGLEPVGNVANKPTYFDIYTAGAGTGDVAVVIVDPQGR
RDTVEVALEDKGDSTFRCTYRPAMEGPHTVHVAFAGAPITRSPFP
VHVSEACNPNACRAS
GRGLQPKGVRVKEVADFKVFTKGAGSGELKVTVKGPKGTEEPVKVREAGDGVFECEYYPV
VPGKYVVTITWGGYAIPRSPFE
VQVSPEAGVQKVRAWGPGLETGQVGKSADFVVEAIGTE
VGTLGFSIEGPSQAKIECDDKGDGSCDVRYWPTEPGEYAVHVICDDEDIRDSPFI
AHILP
APPDCFPDKVKAFGPGLEPTGCIVDKPAEFTIDARAAGKGDLKLYAQDADGCPIDIKVIP
NGDGTFRCSYVPTKPIKHTIIISWGGVNVPKSPFR
VNVGEGSHPERVKVYGPGVEKTGLK
ANEPTYFTVDCSEAGQGDVSIGIKCAPGVVGPAEADIDFDIIKNDNDTFTVKYTPPGAGR
YTIMVLFANQEIPASPFH
IKVDPSHDASKVKAEGPGLNRTGVEVGKPTHFTVLTKGAGKA
KLDVQFAGTAKGEVVRDFEIIDNHDYSYTVKYTAVQQGNMAVTVTYGGDPVPKSPFV
VNV
APPLDLSKIKVQGLNSKVAVGQEQAFSVNTRGAGGQGQLDVRMTSPSRRPIPCKLEPGGG
AEAQAVRYMPPEEGPYKVDITYDGHPVPGSPFA
VEGVLPPDPSKVCAYGPGLKGGLVGTP
APFSIDTKGAGTGGLGLTVEGPCEAKIECQDNGDGSCAVSYLPTEPGEYTINILFAEAHI
PGSPFK
ATIRPVFDPSKVRASGPGLERGKVGEAATFTVDCSEAGEAELTIEILSDAGVKA
EVLIHNNADGTYHITYSPAFPGTYTITIKYGGHPVPKFPTR
VHVQPAVDTSGVKVSGPGV
EPHGVLREVTTEFTVDARSLTATGGNHVTARVLNPSGAKTDTYVTDNGDGTYRVQYTAYE
EGVHLVEVLYDEVAVPKSPFR
VGVTEGCDPTRVRAFGPGLEGGLVNKANRFTVETRGAGT
GGLGLAIEGPSEAKMSCKDNKDGSCTVEYIPFTPGDYDVNITFGGRPIPGSPFR
VPVKDV
VDPGKVKCSGPGLGAGVRARVPQTFTVDCSQAGRAPLQVAVLGPTGVAEPVEVRDNGDGT
HTVHYTPATDGPYTVAVKYADQEVPRSPFK
IKVLPAHDASKVRASGPGLNASGIPASLPV
EFTIDARDAGEGLLTVQILDPEGKPKKANIRDNGDGTYTVSYLPDMSGRYTITIKYGGDE
IPYSPFR
IHALPTGDASKCLVTVSIGGHGLGACLGPRIQIGQETVITVDAKAAGEGKVTC
TVSTPDGAELDVDVVENHDGTFDIYYTAPEPGKYVITIRFGGEHIPNSPFH
VLACDPLPH
EEEPSEVPQLRQPYAPPRPGARPTHWATEEPVVPVEPMESMLRPFNLVIPFAVQKGELTG
EVRMPSGKTARPNITDNKDGTITVRYAPTEKGLHQMGIKYDGNHIPGSPLQ
FYVDAINSR
HVSAYGPGLSHGMVNKPATFTIVTKDAGEGGLSLAVEGPSKAEITCKDNKDGTCTVSYLP
TAPGDYSIIVRFDDKHIPGSPFT
AKITGDDSMRTSQLNVGTSTDVSLKITESDLSQLTAS
IRAPSGNEEPCLLKRLPNRHIGISFTPKEVGEHVVSVRKSGKHVTNSPFKILVGPSEIGD
ASKVRVWGKGLSEGHTFQVAEFIVDTRNAGYGGLGLSIEGPSKVDINCEDMEDGTCKVTY
CPTEPGTYIINIKFADKHVPGSPFT
VKVTGEGRMKESITRRRQAPSIATIGSTCDLNLKI
PGNWFQMVSAQERLTRTFTRSSHTYTRTERTEISKTRGGETKREVRVEESTQVGGDPFPA
VFGDFLGRERLGSFGSITRQQEGEASSQDMTAQVTSPSGKVEAAEIVEGEDSAYSVRFVP
QEMGPHTVAVKYRGQHVPGSPFQ
FTVGPLGEGGAHKVRAGGTGLERGVAGVPAEFSIWTR
EAGAGGLSIAVEGPSKAEIAFEDRKDGSCGVSYVVQEPGDYEVSIKFNDEHIPDSPFV
VP
VASLSDDARRLTVTSLQETGLKVNQPASFAVQLNGARGVIDARVHTPSGAVEECYVSELD
SDKHTIRFIPHENGVHSIDVKFNGAHIPGSPFK
IRVGEQSQAGDPGLVSAYGPGLEGGTT
GVSSEFIVNTLNAGSGALSVTIDGPSKVQLDCRECPEGHVVTYTPMAPGNYLIAIKYGGP
QHIVGSPFK
AKVTGPRLSGGHSLHETSTVLVETVTKSSSSRGSSYSSIPKFSSDASKVVT
RGPGLSQAFVGQKNSFTVDCSKAGTNMMMVGVHGPKTPCEEVYVKHMGNRVYNVTYTVKE
KGDYILIVKWGDESVPGSPFK
VKVP
Sequence length 2725
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytoskeleton in muscle cells   Cell-extracellular matrix interactions