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    FLNC filamin C [ Homo sapiens (human) ]

    Gene ID: 2318, updated on 25-Jan-2022

    Summary

    Official Symbol
    FLNCprovided by HGNC
    Official Full Name
    filamin Cprovided by HGNC
    Primary source
    HGNC:HGNC:3756
    See related
    Ensembl:ENSG00000128591 MIM:102565; AllianceGenome:HGNC:3756
    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; RCM5; CMH26; ABP-280; ABP280A
    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]
    Expression
    Biased expression in heart (RPKM 81.4), prostate (RPKM 45.4) and 9 other tissues See more
    Orthologs
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    Genomic context

    See FLNC in Genome Data Viewer
    Location:
    7q32.1
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (128830406..128859272)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (128470460..128499326)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene tRNA-Pro (anticodon AGG) 2-3 Neighboring gene uncharacterized LOC107986846 Neighboring gene coiled-coil domain containing 136 Neighboring gene FLNC antisense RNA 1 Neighboring gene ATPase H+ transporting V1 subunit F Neighboring gene ATP6V1F neighbor Neighboring gene kielin cysteine rich BMP regulator

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Cardiomyopathy, familial hypertrophic, 26
    MedGen: C4310749 OMIM: 617047 GeneReviews: Not available
    Compare labs
    Myofibrillar myopathy, filamin C-related
    MedGen: C1836050 OMIM: 609524 GeneReviews: Not available
    Compare labs
    Myopathy, distal, 4
    MedGen: C3279722 OMIM: 614065 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-07-13)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-07-13)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 promotes filamin binding to both CD4 and CXCR4 PubMed
    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 Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10186

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ankyrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables cytoskeletal protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in sarcomere organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Z disc IEA
    Inferred from Electronic Annotation
    more info
     
    located_in costamere TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in focal adhesion HDA PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in sarcolemma IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    filamin-C
    Names
    ABP-280-like protein
    ABP-L, gamma filamin
    actin binding protein 280
    filamin C, gamma
    filamin-2
    gamma filamin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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), LRG_870

    mRNA and Protein(s)

    1. NM_001127487.2NP_001120959.1  filamin-C isoform b

      See identical proteins and their annotated locations for NP_001120959.1

      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)
      AC025594
      Consensus CDS
      CCDS47705.1
      UniProtKB/Swiss-Prot
      Q14315
      UniProtKB/TrEMBL
      Q59H94
      Related
      ENSP00000344002.6, ENST00000346177.6
      Conserved Domains (4) summary
      smart00033
      Location:165257
      CH; Calponin homology domain
      smart00557
      Location:14431536
      IG_FLMN; Filamin-type immunoglobulin domains
      cd00014
      Location:37141
      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 ...
      pfam00630
      Location:18231910
      Filamin; Filamin/ABP280 repeat
    2. NM_001458.5NP_001449.3  filamin-C isoform a

      See identical proteins and their annotated locations for NP_001449.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC025594
      Consensus CDS
      CCDS43644.1
      UniProtKB/Swiss-Prot
      Q14315
      UniProtKB/TrEMBL
      Q59H94
      Related
      ENSP00000327145.8, ENST00000325888.13
      Conserved Domains (4) summary
      smart00033
      Location:165257
      CH; Calponin homology domain
      smart00557
      Location:14431536
      IG_FLMN; Filamin-type immunoglobulin domains
      cd00014
      Location:37141
      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 ...
      pfam00630
      Location:18561943
      Filamin; Filamin/ABP280 repeat

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      128830406..128859272
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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