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FLNC Gene

protein-coding   GIFtS: 67
GCID: GC07P128470

Filamin C, Gamma

(Previous names: filamin C, gamma (actin binding protein 280))
(Previous symbol: FLN2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Filamin C, Gamma1 2     ABP-2802
FLN21 2 3 5     ABP280A2
ABPL2 3 5     ABP-L, Gamma Filamin2
Actin Binding Protein 2801 2     Filamin 22
Actin-Binding-Like Protein2 3     filamin-22
FLN-C2 3     filamin-C2
ABP-280-Like Protein2 3     ABP-L3
ABPA2 5     FLNc3
MFM52 5     Filamin-23
MPD42 5     Gamma-filamin3
Filamin C, Gamma (Actin Binding Protein 280)1     

External Ids:    HGNC: 37561   Entrez Gene: 23182   Ensembl: ENSG000001285917   OMIM: 1025655   UniProtKB: Q143153   

Export aliases for FLNC gene to outside databases

Previous GC identifers: GC07M127029 GC07P126948 GC07P128010 GC07P128024 GC07P128064 GC07P128257 GC07P122832


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FLNC Gene:
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 cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous
actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Two
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for FLNC Gene:
FLNC (filamin C, gamma) is a protein-coding gene. Diseases associated with FLNC include middle lobe syndrome, and myopathy, myofibrillar, 5. GO annotations related to this gene include actin binding and ankyrin binding. An important paralog of this gene is FLNA.

UniProtKB/Swiss-Prot: FLNC_HUMAN, Q14315
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

Gene Wiki entry for FLNC Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FLNC gene promoter:
         STAT5B   GATA-3   SREBP-1c   Nkx2-5   IRF-1   SREBP-1b   GATA-2   GATA-1   Roaz   SREBP-1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): FLNC promoter sequence
   Search Chromatin IP Primers for FLNC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FLNC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q32-q35   Ensembl cytogenetic band:  7q32.1   HGNC cytogenetic band: 7q32-q35

FLNC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FLNC gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P128470:  view genomic region     (about GC identifiers)

Start:
128,470,431 bp from pter      End:
128,499,328 bp from pter
Size:
28,898 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 127,854,228-127,883,073     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FLNC_HUMAN, Q14315 (See protein sequence)
Recommended Name: Filamin-C  
Size: 2725 amino acids; 291022 Da
Subunit: Homodimer. Interacts with KY. Interacts with IGFN1 (By similarity). Interacts with MICALL2 (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
Developmental stage: Expressed in both differentiating and adult muscles
Miscellaneous: Silenced in MKN28 and MKN74 gastric cancer cell lines due to aberrant methylation of the gene
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;
Selected PDB 3D structures from and Proteopedia for FLNC (see all 9):
1V05 (3D)        2D7M (3D)        2D7N (3D)        2D7O (3D)        2D7P (3D)        2D7Q (3D)    
Secondary accessions: B2ZZ88 O95303 Q07985 Q9NS12 Q9NYE5 Q9UMR8 Q9Y503
Alternative splicing: 2 isoforms:  Q14315-1   Q14315-2   

Explore the universe of human proteins at neXtProt for FLNC: NX_Q14315

Explore proteomics data for FLNC at MOPED

Post-translational modifications: 

  • Ubiquitinated by FBXL22, leading to proteasomal degradation1
  • Ubiquitination2 at Lys36, Lys80, Lys2316
  • Modification sites at PhosphoSitePlus

  • See FLNC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001120959.1  NP_001449.3  

    ENSEMBL proteins: 
     ENSP00000327145   ENSP00000344002  
    Reactome Protein details: Q14315

    FLNC Human Recombinant Protein Products:

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    Novus Biologicals FLNC Protein
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FLNC

    FLNC Antibody Products:

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    Novus Biologicals FLNC Antibodies
    Abcam antibodies for FLNC (Q14315, O75369)
    Cloud-Clone Corp. Antibodies for FLNC
    ThermoFisher Antibodies for FLNC
    LSBio Antibodies in human, mouse, rat for FLNC

    FLNC Assay Products:

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    GenScript Custom Assay Services for FLNC
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for FLNC
    Cloud-Clone Corp. CLIAs for FLNC


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR001298 Filamin/ABP280_rpt
     IPR014756 Ig_E-set
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold
     IPR001715 CH-domain

    Graphical View of Domain Structure for InterPro Entry Q14315

    ProtoNet protein and cluster: Q14315

    2 Blocks protein domains:
    IPB001589 Actin-binding
    IPB001715 Calponin-like actin-binding


    UniProtKB/Swiss-Prot: FLNC_HUMAN, Q14315
    Domain: The intradomain insert is specific to FLNC and mediates the targeting to developing and mature Z lines
    Domain: Comprised of a N-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
    Similarity: Belongs to the filamin family
    Similarity: Contains 1 actin-binding domain
    Similarity: Contains 2 CH (calponin-homology) domains
    Similarity: Contains 24 filamin repeats


    FLNC for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FLNC_HUMAN, Q14315
    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

         Genatlas biochemistry entry for FLNC:
    filamin C,dimeric actin cross-linking phosphoprotein of the peripheral cytoplasm

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI11038172
    GO:0008092cytoskeletal protein binding IPI17987659
    GO:0030506ankyrin binding IPI--
         
    FLNC for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for FLNC:
     Decreased focal adhesion (FA)  

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Flnc):
     behavior/neurological  cardiovascular system  growth/size/body  integument  mortality/aging 
     muscle  respiratory system 

    FLNC for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Flnctm1Lmk for FLNC

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FLNC
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FLNC

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FLNC
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FLNC

    miRNA
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    miRTarBase miRNAs that target FLNC:
    hsa-mir-454-3p (MIRT039242), hsa-mir-1 (MIRT024106)

    Block miRNA regulation of human, mouse, rat FLNC using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FLNC (see all 15):
    hsa-miR-320a hsa-miR-320d hsa-miR-3675-5p hsa-miR-486-3p hsa-miR-218 hsa-miR-342-3p hsa-miR-650 hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidFLNC 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for FLNC
    Predesigned siRNA for gene silencing in human, mouse, rat FLNC

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for FLNC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): FLNC (NM_001458)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FLNC
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FLNC

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for FLNC 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FLNC


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FLNC_HUMAN, Q14315: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    plasma membrane4
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane IDA--
    GO:0016528sarcoplasm IEA--

    FLNC for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for FLNC About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Cell junction organization
    Cell junction organization0.70
    Cell-extracellular matrix interactions0.00
    Cell-Cell communication0.64
    2Focal adhesion
    Focal adhesion0.65
    3PAK Pathway
    Antioxidant Action of Vitamin-C0.56
    4MAPK signaling pathway
    MAPK signaling pathway0.50
    5ERK Signaling
    ILK Signaling0.49

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for FLNC
        SMAD Signaling Network
    ILK Signaling
    Antioxidant Action of Vitamin-C

    1 Cell Signaling Technology (CST) Pathway for FLNC
        Cytoskeletal Signaling

    1 Reactome Pathway for FLNC
        Cell-extracellular matrix interactions


    4 Kegg Pathways  (Kegg details for FLNC):
        MAPK signaling pathway
    Focal adhesion
    Salmonella infection
    Proteoglycans in cancer


    FLNC for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FLNC
    Interactions:

        GeneGlobe Interaction Network for FLNC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for FLNC (Q143151, 2, 3 ENSP000003271454) via UniProtKB, MINT, STRING, and/or I2D (see all 100)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005191, 2, 3, ENSP000003614234EBI-489954,EBI-375543 MINT-8110371 I2D: score=3 STRING: ENSP00000361423
    SGCDQ926292, 3, ENSP000003383434MINT-14400 MINT-14402 MINT-14399 MINT-14401 I2D: score=4 STRING: ENSP00000338343
    PLCG1P191742, 3, ENSP000002440074MINT-8112567 I2D: score=4 STRING: ENSP00000244007
    FYNP062412, 3, ENSP000003576564MINT-8111223 I2D: score=3 STRING: ENSP00000357656
    PIK3R1P279862, 3, ENSP000002743354MINT-8111979 I2D: score=3 STRING: ENSP00000274335
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0034329cell junction assembly TAS--
    GO:0048747muscle fiber development IEA--

    FLNC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FLNC

    1 Novoseek inferred chemical compound relationship for FLNC gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 0 1 16297652 (1)



    FLNC for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FLNC gene (2 alternative transcripts): 
    NM_001127487.1  NM_001458.4  

    Unigene Cluster for FLNC:

    Filamin C, gamma
    Hs.58414  [show with all ESTs]
    Unigene Representative Sequence: AB371585
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000325888(uc003vnz.4) ENST00000346177(uc003voa.4) ENST00000388853

    miRNA
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    Block miRNA regulation of human, mouse, rat FLNC using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FLNC (see all 15):
    hsa-miR-320a hsa-miR-320d hsa-miR-3675-5p hsa-miR-486-3p hsa-miR-218 hsa-miR-342-3p hsa-miR-650 hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidFLNC 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for FLNC
    Predesigned siRNA for gene silencing in human, mouse, rat FLNC
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): FLNC (NM_001458)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FLNC
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FLNC
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for FLNC
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FLNC
      QuantiTect SYBR Green Assays in human, mouse, rat FLNC
      QuantiFast Probe-based Assays in human, mouse, rat FLNC

    Additional mRNA sequence: 

    AB208865.1 AB371585.1 AF089841.1 AF146692.1 AJ012737.1 AK001048.1 AK126540.1 X70083.1 
    X70084.1 

    9 DOTS entries:

    DT.95176111  DT.100778267  DT.95185474  DT.100778266  DT.101977680  DT.100645175  DT.102840287  DT.121107385 
    DT.91767972 

    Selected AceView cDNA sequences (see all 263):

    BQ671042 BQ878242 BF432154 BU174316 BQ691637 AK126540 AI191138 BP365940 
    BQ672014 BQ890092 BQ690485 BU163622 BU174694 BQ689211 BQ686444 BU168508 
    BQ688488 AI805005 BM012378 BQ877906 AI283250 BQ684710 BQ687059 BU149938 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for FLNC    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            

    ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48
    SP1:                                      -                                                                                                         
    SP2:                                                                                                                                                
    SP3:                                                                                                                                                


    ECgene alternative splicing isoforms for FLNC

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FLNC expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGCTCAGCT
    FLNC Expression
    About this image


    FLNC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 21 entries
             Mononuclear Myocytes Cervical Primary Hypaxial Myotome
             Extraocular Muscles
     
     Somite (Muscoskeletal System)    fully expand to see all 16 entries
             Mononuclear Myocytes Cervical Primary Hypaxial Myotome
     
     Limb (Muscoskeletal System)    fully expand to see all 6 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 4 entries
             Human embryonic stem cells (family)
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Lateral Ventricle
    FLNC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FLNC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.58414

    UniProtKB/Swiss-Prot: FLNC_HUMAN, Q14315
    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

        Custom PCR Arrays for FLNC
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for FLNC gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Flnc1 , 5 filamin C, gamma1, 5 89.6(n)1
    98.31(a)1
      6 (12.36 cM)5
    687941  NM_001081185.11  NP_001074654.11 
     294332565 
    chicken
    (Gallus gallus)
    Aves FLNC1 filamin C, gamma 71.76(n)
    72.76(a)
      395260  NM_204573.1  NP_989904.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    89(a)
    83(a)
    1 ↔ many
    1 ↔ many
    GL344208.1(1343-55065)
    GL344266.1(15020-57772)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.144022 Xenopus laevis transcribed sequence with moderate similarity more 75.75(n)    BQ724098.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570451762   -- 76.18(n)    57045176 
    fruit fly
    (Drosophila melanogaster)
    Insecta jbug3 actin binding 24(a)   59A3   --
    worm
    (Caenorhabditis elegans)
    Secernentea C23F12.23 actin-binding 42(a)
    (best of 2)
      X(9432989-9443298)   --


    ENSEMBL Gene Tree for FLNC (if available)
    TreeFam Gene Tree for FLNC (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FLNC gene
    FLNA2  FLNB2  
    6 SIMAP similar genes for FLNC using alignment to 2 protein entries:     FLNC_HUMAN (see all proteins):
    DKFZp686A1668    FLJ00119    FLNB    FLNA    HSpTB1    DMD

    FLNC for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FLNC
    PGOHUM00000250909


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FLNC (see all 1071)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0662124
    Myopathy, distal, 4 (MPD4)4--see VAR_0662122 A T mis40--------
    VAR_0662134
    Myopathy, distal, 4 (MPD4)4--see VAR_0662132 M T mis40--------
    rs1381932361,2
    Cuntested1131830606(+) GCGTCC/G/TGAGCC 4 R * stg10--------
    rs624796251,2
    C,F--127854121(+) CGGCGT/CTCTGA 2 -- us2k11Minor allele frequency- C:0.00NA 2
    rs285498251,2
    C--128497938(+) ATTTGA/GGGGGG 2 -- int10--------
    rs26391411,2
    C,F,H--128497945(+) GGGGAG/ACCTCA 2 -- int18Minor allele frequency- A:0.10NS NA 892
    rs286898131,2
    C,F,H--128497990(+) TGGCCG/AAGGGT 2 -- int110Minor allele frequency- A:0.11NS NA 1458
    rs7549211,2
    C,F,A--131812748(+) GCCACA/GCACAG 2 -- us2k119Minor allele frequency- G:0.49NS MN NA EA WA CSA 2136
    rs1835622071,2
    --131812808(+) CCTAAA/GGACCA 2 -- us2k10--------
    rs1484188571,2
    C--131812946(+) CACTAC/TCCCTT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for FLNC (128470431 - 128499328 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FLNC (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2675111CNV Deletion23128226
    esv2735137CNV Deletion23290073
    esv2670312CNV Deletion23128226
    nsv464715CNV Loss19166990
    nsv889198CNV Loss21882294
    nsv831125CNV Loss17160897
    nsv464713CNV Loss19166990
    nsv464717CNV Loss19166990
    dgv7490n71CNV Loss21882294
    nsv889192CNV Loss21882294

    Human Gene Mutation Database (HGMD): FLNC
    Locus Specific Mutation Databases (LSDB): FLNC

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 102565   
    OMIM disorders: 609524  614065  
    UniProtKB/Swiss-Prot: FLNC_HUMAN, Q14315
  • Myopathy, myofibrillar, 5 (MFM5) [MIM:609524]: A neuromuscular disorder, usually with an adult onset,
    characterized by focal myofibrillar destruction, pathological cytoplasmic protein aggregations, and clinical
    features of a limb-girdle myopathy. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Myopathy, distal, 4 (MPD4) [MIM:614065]: 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. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • Selected diseases for FLNC (see all 35):    
    About MalaCards
    middle lobe syndrome    myopathy, myofibrillar, 5    distal myopathy 4    zaspopathy
    cardiac rupture    cerebrotendinous xanthomatosis    myofibrillar myopathy    xanthomatosis
    common cold    allergic bronchopulmonary aspergillosis    nemaline myopathy    osteochondrodysplasia
    paget's disease of bone    aspergillosis    limb-girdle muscular dystrophy    bronchiectasis
    myopathy    muscular dystrophy    polydactyly    was-related disorders

    6 diseases from the University of Copenhagen DISEASES database for FLNC:
    Aspergillosis     Bronchiectasis     Cystic fibrosis     Asthma
    Eosinophilia     Sinusitis

    FLNC for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for FLNC gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lgmd1a 92.4 1 12499399 (1)
    muscular dystrophy limb-girdle 83.6 1 10629222 (1)
    limb girdle 79.2 1 12499399 (1)
    myopathy 75.2 11 15929027 (2), 17337483 (1), 18769253 (1), 19181098 (1) (see all 7)
    muscular dystrophies 74.5 2 10629222 (1), 12499399 (1)
    cardiomyopathy 19.5 2 20124440 (1)
    gastric cancer 0 2 12438262 (1), 15279900 (1)
    melanoma 0 5 9006895 (2), 9392863 (1)

    GeneTests: FLNC
    GeneReviews: FLNC
    Genetic Association Database (GAD): FLNC
    Human Genome Epidemiology (HuGE) Navigator: FLNC (5 documents)

    Export disorders for FLNC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FLNC gene, integrated from 10 sources (see all 137):
    (articles sorted by number of sources associating them with FLNC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7. (PubMed id 7689010)1, 2, 3 Maestrini E.... Toniolo D. (Hum. Mol. Genet. 1993)
    2. Filamin 2 (FLN2): a muscle-specific sarcoglycan interacting protein. (PubMed id 10629222)1, 2, 9 Thompson T.G.... Kunkel L.M. (J. Cell Biol. 2000)
    3. A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy. (PubMed id 15929027)1, 2, 9 Vorgerd M.... Huebner A. (Am. J. Hum. Genet. 2005)
    4. The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins. (PubMed id 16501887)1, 2, 9 Bosch-Comas A....Marfany G. (Cell. Mol. Life Sci. 2006)
    5. The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins. (PubMed id 16076904)1, 2, 9 Gontier Y.... Borradori L. (J. Cell Sci. 2005)
    6. Characterization of muscle filamin isoforms suggests a possible role of gamma-filamin/ABP-L in sarcomeric Z-disc formation. (PubMed id 10658210)1, 2, 9 van der Ven P.F.M....Fuerst D.O. (Cell Motil. Cytoskeleton 2000)
    7. Crystal structure of human filamin C domain 23 and small angle scattering model for filamin C 23-24 dimer. (PubMed id 17379241)1, 2, 9 Sjekloca L.... Djinovic Carugo K. (J. Mol. Biol. 2007)
    8. Candidate-gene testing for orphan limb-girdle muscular dystrophies. (PubMed id 19472918)1, 4, 9 Aurino S....Nigro V. (Acta Myol 2008)
    9. Structural basis for vertebrate filamin dimerization. (PubMed id 15642266)1, 2, 9 Pudas R.... Ylaenne J. (Structure 2005)
    10. Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins. (PubMed id 11842093)1, 2, 9 Frey N. and Olson E.N. (J. Biol. Chem. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2318 HGNC: 3756 AceView: FLNC Ensembl:ENSG00000128591 euGenes: HUgn2318
    ECgene: FLNC Kegg: 2318 H-InvDB: FLNC

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FLNC Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FLNC[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FLNC gene:
    Search GeneIP for patents involving FLNC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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