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    flncb filamin C, gamma b (actin binding protein 280) [ Danio rerio (zebrafish) ]

    Gene ID: 570288, updated on 4-Jan-2025

    Summary

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    Official Symbol
    flncbprovided by ZNC
    Official Full Name
    filamin C, gamma b (actin binding protein 280)provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-041008-175
    See related
    Ensembl:ENSDARG00000018820 AllianceGenome:ZFIN:ZDB-GENE-041008-175
    Gene type
    protein coding
    RefSeq status
    MODEL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    im:7139256; wu:fc02d03
    Summary
    Predicted to enable actin filament binding activity. Acts upstream of or within several processes, including locomotory behavior; muscle cell cellular homeostasis; and organelle assembly. Predicted to be located in intracellular membraneless organelle. Is expressed in several structures, including adaxial cell; optic vesicle; primitive heart tube; retina; and skeletal muscle cell. Used to study autosomal dominant polycystic kidney disease and dilated cardiomyopathy. Human ortholog(s) of this gene implicated in distal myopathy 4; hypertrophic cardiomyopathy 26; and myofibrillar myopathy 5. Orthologous to human FLNC (filamin C). [provided by Alliance of Genome Resources, Jan 2025]
    Orthologs
    all
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    Genomic context

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    See flncb in Genome Data Viewer
    Location:
    chromosome: 4
    Exon count:
    49
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 4 NC_007115.7 (10066367..10131479)
    105 previous assembly GRCz10 (GCF_000002035.5) 4 NC_007115.6 (10065520..10131046)

    Chromosome 4 - NC_007115.7Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 136b Neighboring gene uncharacterized LOC101885530 Neighboring gene potassium voltage-gated channel, Shal-related subfamily, member 2 Neighboring gene tetraspanin 12

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy. Ruparelia AA, et al. Hum Mol Genet, 2012 Sep 15. PMID 22706277
    2. FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy. Begay RL, et al. JACC Basic Transl Sci, 2016 Aug. PMID 28008423, Free PMC Article
    3. Prioritizing causal disease genes using unbiased genomic features. Deo RC, et al. Genome Biol, 2014 Dec 3. PMID 25633252, Free PMC Article
    4. Transcriptional upregulation of Bag3, a chaperone-assisted selective autophagy factor, in animal models of KY-deficient hereditary myopathy. Jokl EJ, et al. Dis Model Mech, 2018 Jul 6. PMID 29914939, Free PMC Article
    5. Granulin knock out zebrafish lack frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis pathology. Solchenberger B, et al. PLoS One, 2015. PMID 25785851, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A filamin-related myofibrillar myopathy zebrafish model is caused by a nonsense mutation in the flncb gene.
      Title: Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy.
    Submit: New GeneRIF Correction

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables actin filament binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within actin cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cilium assembly IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within locomotory behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within muscle cell cellular homeostasis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within muscle cell cellular homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within sarcomere organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in intracellular membraneless organelle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    filamin-C
    Names
    gamma filamin
    sot

    NCBI Reference Sequences (RefSeq)

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    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007115.7 Reference GRCz11 Primary Assembly

      Range
      10066367..10131479
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_021475222.2 → XP_021330897.1  filamin-C isoform X1

      UniProtKB/TrEMBL
      A0A8M9PHR9, F1QL44
      Related
      ENSDARP00000024947.8, ENSDART00000026492.9
      Conserved Domains (2) summary
      smart00557
      Location:1205 → 1297
      IG_FLMN; Filamin-type immunoglobulin domains
      COG5069
      Location:43 → 269
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

    2. XM_021475228.2 → XP_021330903.1  filamin-C isoform X7

      UniProtKB/TrEMBL
      A0A8M9PV14
      Conserved Domains (2) summary
      smart00557
      Location:1205 → 1297
      IG_FLMN; Filamin-type immunoglobulin domains
      COG5069
      Location:43 → 269
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

    3. XM_021475224.2 → XP_021330899.1  filamin-C isoform X3

      UniProtKB/TrEMBL
      A0A8M9Q104
      Conserved Domains (2) summary
      smart00557
      Location:1205 → 1297
      IG_FLMN; Filamin-type immunoglobulin domains
      COG5069
      Location:43 → 269
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

    4. XM_021475229.2 → XP_021330904.1  filamin-C isoform X8

      UniProtKB/TrEMBL
      A0A8M9Q107
      Conserved Domains (2) summary
      smart00557
      Location:1205 → 1297
      IG_FLMN; Filamin-type immunoglobulin domains
      COG5069
      Location:43 → 269
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

    5. XM_021475223.2 → XP_021330898.1  filamin-C isoform X2

      UniProtKB/TrEMBL
      A0A8M9PV09
      Conserved Domains (2) summary
      smart00557
      Location:1204 → 1296
      IG_FLMN; Filamin-type immunoglobulin domains
      COG5069
      Location:43 → 269
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

    6. XM_021475225.2 → XP_021330900.1  filamin-C isoform X4

      UniProtKB/TrEMBL
      A0A8M9QBS4
      Conserved Domains (2) summary
      smart00557
      Location:1164 → 1256
      IG_FLMN; Filamin-type immunoglobulin domains
      COG5069
      Location:43 → 269
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

    7. XM_021475227.2 → XP_021330902.1  filamin-C isoform X6

      UniProtKB/TrEMBL
      A0A8M9PHS4
      Conserved Domains (2) summary
      smart00557
      Location:1164 → 1256
      IG_FLMN; Filamin-type immunoglobulin domains
      COG5069
      Location:43 → 269
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

    8. XM_021475230.2 → XP_021330905.1  filamin-C isoform X9

      UniProtKB/TrEMBL
      A0A8M9QBT0
      Conserved Domains (2) summary
      smart00557
      Location:1164 → 1256
      IG_FLMN; Filamin-type immunoglobulin domains
      COG5069
      Location:43 → 269
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

    9. XM_021475226.2 → XP_021330901.1  filamin-C isoform X5

      UniProtKB/TrEMBL
      A0A8M9Q696
      Conserved Domains (2) summary
      smart00557
      Location:1163 → 1255
      IG_FLMN; Filamin-type immunoglobulin domains
      COG5069
      Location:43 → 269
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

    10. XM_021475231.2 → XP_021330906.1  filamin-C isoform X10

      UniProtKB/TrEMBL
      A0A8M9Q6A0
      Conserved Domains (2) summary
      smart00557
      Location:1163 → 1255
      IG_FLMN; Filamin-type immunoglobulin domains
      COG5069
      Location:43 → 269
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

    11. XM_009300205.4 → XP_009298480.1  filamin-C isoform X1

      UniProtKB/TrEMBL
      A0A8M9PHR9, F1QL44
      Conserved Domains (2) summary
      smart00557
      Location:1205 → 1297
      IG_FLMN; Filamin-type immunoglobulin domains
      COG5069
      Location:43 → 269
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    Nucleotide Protein Strain
    Heading Accession and Version

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