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

Gene ID: 570288, updated on 2-Nov-2024

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 non-membrane-bounded 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, Nov 2024]
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 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 non-membrane-bounded 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
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