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    FLNC filamin C, gamma [ Homo sapiens ]

    Gene ID: 2318, updated on 19-May-2012
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    Summary

    Official Symbol
    FLNCprovided by HGNC
    Official Full Name
    filamin C, gammaprovided by HGNC
    Primary source
    HGNC:3756
    See related
    Ensembl:ENSG00000128591; HPRD:00018; MIM:102565; Vega:OTTHUMG00000023627
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ABPA; ABPL; FLN2; MFM5; MPD4; ABP-280; ABP280A; FLJ10186
    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 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]
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    Genomic context

    Location :
    7q32-q35
    Sequence :
    Chromosome: 7; NC_000007.13 (128470483..128499328)
    See FLNC in Epigenomics, MapViewer

    Chromosome 7 - NC_000007.13Genomic Context describing neighboring genes Neighboring gene calumenin Neighboring gene opsin 1 (cone pigments), short-wave-sensitive Neighboring gene coiled-coil domain containing 136 Neighboring gene uncharacterized LOC100130705 Neighboring gene ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency. Guergueltcheva V, et al. Neurology, 2011 Dec 13. PMID 22131542.
    2. Identification of ubiquitinated proteins from human multiple myeloma U266 cells by proteomics. Jia H, et al. Biomed Environ Sci, 2011 Aug. PMID 22108332.
    3. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    4. Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. Duff RM, et al. Am J Hum Genet, 2011 Jun 10. PMID 21620354.
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.

    See all (62) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. We conclude that filamin C is a dosage-sensitive gene and that FLNC haploinsufficiency can cause a specific type of myopathy in humans.
      Title: Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency.
    2. 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.
      Title: Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
    3. 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
      Title: 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.
    4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Case-control genome-wide association study of attention-deficit/hyperactivity disorder.
    5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    6. 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.
      Title: In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
    7. 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.
      Title: Candidate-gene testing for orphan limb-girdle muscular dystrophies.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    9. Data show that in myofibrillar myopathies filamin C exhibites significant alterations in their localization.
      Title: Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.
    10. filamin-C, a known component of striated muscle Z-lines, interacts with nebulette modules
      Title: Nebulette interacts with filamin C.
    Submit: New GeneRIF Correction See all (19)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Myopathy, distal, 4

    Myopathy, myofibrillar, 5

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol A number of focal adhesion plaque proteins are specifically cleaved by HIV-1 protease, including fimbrin, focal adhesion plaque kinase (FAK), talin, and, to a lesser extent, filamin, spectrin and fibronectin PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_001449.1 NP_848649.2 KY    BIND  PubMed KY interacts with FLNC. This interaction was modeled on a demonstrated interaction between mouse KY and human FLNC. 
    NP_001449.1 NP_067068.1 MYOZ1    BIND  PubMed FATZ interacts with FLNC. 
    Q14315 P35348 ADRA1A    HPRD  PubMed  
    Q14315 P35368 ADRA1B    HPRD  PubMed  
    Q14315 P25100 ADRA1D    HPRD  PubMed  
    Q14315 P20807 CAPN3    HPRD  PubMed  
    Q14315 P09958 FURIN    HPRD  PubMed  
    Q14315 Q9H422 HIPK3    HPRD  PubMed  
    Q14315 SHIP2 INPPL1    HPRD  PubMed  
    Q14315 Q9NZV8 KCND2    HPRD  PubMed  
    Q14315 Kyphoscoliosis peptidase KY    HPRD  PubMed  
    Q14315 P45985 MAP2K4    HPRD  PubMed  
    Q14315 Q9UBF9 MYOT    HPRD  PubMed  
    Q14315 NP_067068.1 MYOZ1    BIND  PubMed Calsarcin-2 interacts with gamma-filamin. 
    Q14315 Q9NP98 MYOZ1    HPRD  PubMed  
    Q14315 NP_057683.1 MYOZ2    BIND  PubMed Calsarcin-1 interacts with gamma-filamin. 
    Q14315 Q9NPC6 MYOZ2    HPRD  PubMed  
    Q14315 NP_588612.1 MYOZ3    BIND  PubMed Calsarcin-3 interacts with gamma-filamin. 
    Q14315 Q8TDC0 MYOZ3    HPRD  PubMed  
    Q14315 O15259 NPHP1    HPRD  PubMed  
    Q14315 Q86SQ0 PHLDB2    HPRD  PubMed  
    Q14315 P17252 PRKCA    HPRD  PubMed  
    Q14315 Q92629 SGCD    HPRD  PubMed  
    Q14315 Q13326 SGCG    HPRD  PubMed  
    BioGRID:108607 BioGRID:115889 CAMKK2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108607 BioGRID:107275 CAPN3    BioGRID  PubMed Biochemical Activity 
    BioGRID:108607 BioGRID:971788 EBNA-LP    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108607 BioGRID:109848 INPPL1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:108607 BioGRID:109953 KCND2    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:108607 BioGRID:112315 MAP2K4    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:108607 BioGRID:114878 MYOT    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108607 BioGRID:121849 MYOZ1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:108607 BioGRID:119726 MYOZ2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108607 BioGRID:124899 MYOZ3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108607 BioGRID:128638 OTUD1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108607 BioGRID:120112 OTUD4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108607 BioGRID:124661 PHLDB2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108607 BioGRID:123689 RASSF5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108607 BioGRID:112342 SGCD    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:108607 BioGRID:112343 SGCG    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:108607 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108607 BioGRID:118895 USP25    BioGRID  PubMed Two-hybrid 
    BioGRID:108607 BioGRID:120020 USP53    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108607 BioGRID:117550 WIPI2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108607 BioGRID:122403 WNK1    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Cell junction organization, organism-specific biosystem (from REACTOME)
      Cell junction organization, organism-specific biosystem
      Cell junction organization
    • Cell-Cell communication, organism-specific biosystem (from REACTOME)
      Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
    • Cell-extracellular matrix interactions, organism-specific biosystem (from REACTOME)
      Cell-extracellular matrix interactions, organism-specific biosystemCellâ??extracellular matrix (ECM) interactions play a critical role in regulating a variety of cellular processes in multicellular organisms including motility, shape change, survival, proliferation ...
    • Focal adhesion, organism-specific biosystem (from KEGG)
      Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, conserved biosystem (from KEGG)
      Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • MAPK signaling pathway, organism-specific biosystem (from KEGG)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, conserved biosystem (from KEGG)
      MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • Salmonella infection, organism-specific biosystem (from KEGG)
      Salmonella infection, organism-specific biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
    • Salmonella infection, conserved biosystem (from KEGG)
      Salmonella infection, conserved biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoskeletal protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    cell junction assembly TAS
    Traceable Author Statement
    more info
    		  
    muscle fiber development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    Z disc IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    filamin-C
    Names
    filamin-C
    FLN-C
    filamin 2
    filamin-2
    ABP-280-like protein
    ABP-L, gamma filamin
    actin binding protein 280
    actin-binding-like protein
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011807.1 RefSeqGene

      Range
      5001..33846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001127487.1 → NP_001120959.1  filamin-C isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AB208865, AF089841, AF146692, AJ012737
      Consensus CDS
      CCDS47705.1
      UniProtKB/Swiss-Prot
      Q14315
      UniProtKB/TrEMBL
      Q59H94
      Related
      ENSP00000344002, OTTHUMP00000212838, ENST00000346177, OTTHUMT00000350795
      Conserved Domains (3) summary
      cd00014
      Location:37 – 141
      Blast Score: 242
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      smart00557
      Location:1829 – 1915
      Blast Score: 309
      IG_FLMN; Filamin-type immunoglobulin domains
      pfam00630
      Location:1538 – 1627
      Blast Score: 258
      Filamin; Filamin/ABP280 repeat

    2. NM_001458.4 → NP_001449.3  filamin-C isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AB208865, AF089841, AF146692, AJ012737
      Consensus CDS
      CCDS43644.1
      UniProtKB/Swiss-Prot
      Q14315
      UniProtKB/TrEMBL
      Q59H94
      Related
      ENSP00000327145, OTTHUMP00000025245, ENST00000325888, OTTHUMT00000059948
      Conserved Domains (3) summary
      cd00014
      Location:37 – 141
      Blast Score: 243
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      smart00557
      Location:1862 – 1948
      Blast Score: 309
      IG_FLMN; Filamin-type immunoglobulin domains
      pfam00630
      Location:1538 – 1627
      Blast Score: 258
      Filamin; Filamin/ABP280 repeat

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000007.13 Reference GRCh37.p5 Primary Assembly

      Range
      128470483..128499328
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000139.1 Alternate HuRef

      Range
      122832064..122860967
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CRA_TCAGchr7v2

    Genomic

    1. AC_000068.1 Alternate CRA_TCAGchr7v2

      Range
      127854228..127883073
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC025594.5 (19578..48427) None
    genomic AF184126.1 AAF68195.1
    genomic AF252549.1 AAF67190.1
    genomic AJ132990.1 CAB51535.1
    genomic CH236950.1 (13197131..13225980) None
    genomic CH471070.1 EAW83689.1
      EAW83690.1
      EAW83691.1
    mRNA AB208865.1 BAD92102.1
    mRNA AB371585.1 BAG48314.1
    mRNA AF089841.1 AAD12245.1
    mRNA AF146692.1 AAF80245.1
    mRNA AJ012737.1 CAB46442.1
    mRNA AK001048.1 BAG50853.1
    mRNA F30928.1 None
    mRNA X70083.1 CAA49688.1
    mRNA X70084.1 CAA49689.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14315.3 GenPept UniProtKB/Swiss-Prot:Q14315
    Q59H94 GenPept UniProtKB/TrEMBL:Q59H94
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

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