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    Flnb filamin B [ Rattus norvegicus (Norway rat) ]

    Gene ID: 306204, updated on 9-Dec-2024

    Summary

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    Symbol
    Flnbprovided by RGD
    Full Name
    filamin Bprovided by RGD
    Primary source
    RGD:1311915
    See related
    EnsemblRapid:ENSRNOG00000009470 AllianceGenome:RGD:1311915
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable identical protein binding activity. Predicted to act upstream of or within several processes, including cellular response to type II interferon; epithelial cell development; and skeletal muscle tissue development. Located in neuronal cell body. Human ortholog(s) of this gene implicated in Larsen syndrome; bone development disease (multiple); cleft palate; and spinal disease (multiple). Orthologous to human FLNB (filamin B). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Kidney (RPKM 310.7), Lung (RPKM 189.4) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Flnb in Genome Data Viewer
    Location:
    15p14
    Exon count:
    46
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 15 NC_086033.1 (19392212..19525278, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 15 NC_051350.1 (16961999..17095059, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 15 NC_005114.4 (18750152..18883019, complement)

    Chromosome 15 - NC_086033.1Genomic Context describing neighboring genes Neighboring gene deoxyribonuclease 1L3 Neighboring gene uncharacterized LOC103693818 Neighboring gene ATP6V1F neighbor like Neighboring gene uncharacterized LOC134482086 Neighboring gene ribosomal protein S19, pseudogene 15 Neighboring gene POTE ankyrin domain family member H Neighboring gene UTP4 small subunit processome component, pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Krakow D, et al. Nat Genet, 2004 Apr. PMID 14991055
    2. Mutations in FLNB cause boomerang dysplasia. Bicknell LS, et al. J Med Genet, 2005 Jul. PMID 15994868, Free PMC Article
    3. Mutations in two regions of FLNB result in atelosteogenesis I and III. Farrington-Rock C, et al. Hum Mutat, 2006 Jul. PMID 16752402
    4. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. Bicknell LS, et al. J Med Genet, 2007 Feb. PMID 16801345, Free PMC Article
    5. Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus. Yang H, et al. Hum Genet, 2016 Oct. PMID 27395407

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables actin filament binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within actin cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within cellular response to type II interferon ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within epithelial cell morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within keratinocyte development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within skeletal muscle tissue development ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in brush border ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in focal adhesion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in phagocytic vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in stress fiber ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    filamin-B
    Names
    filamin B, beta
    filamin, beta
    filamin-B-like

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001107288.2 → NP_001100758.1  filamin-B isoform 3

      See identical proteins and their annotated locations for NP_001100758.1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000015
      UniProtKB/TrEMBL
      A0A8I6GK95, A6K0C4, D4A8D5
      Related
      ENSRNOP00000061198.1, ENSRNOT00000066546.3
      Conserved Domains (3) summary
      smart00557
      Location:1421 → 1514
      IG_FLMN; Filamin-type immunoglobulin domains
      cd00014
      Location:17 → 121
      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:1418 → 1508
      Filamin; Filamin/ABP280 repeat

    2. NM_001431546.1 → NP_001418475.1  filamin-B isoform 1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000015
      UniProtKB/TrEMBL
      A0A0G2JXT8, A0A8I6GK95

    3. NM_001431547.1 → NP_001418476.1  filamin-B isoform 2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000015
      UniProtKB/TrEMBL
      A0A8I6GK95

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086033.1 Reference GRCr8

      Range
      19392212..19525278 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006251780.5 → XP_006251842.1  filamin-B isoform X1

      Related
      ENSRNOP00000070399.1, ENSRNOT00000088264.3
      Conserved Domains (3) summary
      smart00557
      Location:1421 → 1514
      IG_FLMN; Filamin-type immunoglobulin domains
      cd00014
      Location:17 → 121
      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:1418 → 1508
      Filamin; Filamin/ABP280 repeat

    2. XM_006251781.5 → XP_006251843.1  filamin-B isoform X2

      Conserved Domains (3) summary
      smart00557
      Location:1421 → 1514
      IG_FLMN; Filamin-type immunoglobulin domains
      cd00014
      Location:17 → 121
      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:1418 → 1508
      Filamin; Filamin/ABP280 repeat
    Nucleotide Protein Strain
    Heading Accession and Version

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