ZFIN ID: ZDB-GENE-090112-4
Gene Name: fibrillin 2a
Gene Symbol: fbn2a    Nomenclature History

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Previous Names: fbn4 (1), fibrillin 4 (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 10 Mapping Details/Browsers
Description: Predicted to have calcium ion binding activity. Predicted to be involved in elastic fiber assembly. Human ortholog(s) of this gene implicated in distal arthrogryposis and scoliosis. Orthologous to human FBN2 (fibrillin 2).
Genome Resources: Alliance (1),  Gene:558217 (1),  Ensembl(GRCz11):ENSDARG00000051896 (2)
GENE EXPRESSION
All Expression Data: Fig. S1 from Talbot et al., 2016
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa14044 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa14555 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa17112 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa21695 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa21696 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa21697 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa27582 Point Mutation Unknown Premature Stop ENU
    sa31772 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa34870 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • sa34871 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa34872 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa34874 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa41614 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa41615 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa41617 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    DISEASE ASSOCIATED WITH fbn2a HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    distal arthrogryposis Alliance Contractural arachnodactyly, congenital 121050
    Macular degeneration, early-onset 616118
    DISEASE ASSOCIATED WITH fbn2a VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Molecular Function calcium ion binding (more)
    GO Terms (all 1)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    PTM IPR000152 EGF-type aspartate/asparagine hydroxylation site
    Domain IPR000742 EGF-like domain
    Domain IPR001881 EGF-like calcium-binding domain
    Homologous_superfamily IPR009030 Growth factor receptor cysteine-rich domain superfamily
    Conserved_site IPR013032 EGF-like, conserved site
    Domain IPR017878 TB domain
    Conserved_site IPR018097 EGF-like calcium-binding, conserved site
    Domain IPR026823 Complement Clr-like EGF domain
    Homologous_superfamily IPR036773 TGF-beta binding (TB) domain superfamily
    Domain IPR040872 Fibrillin 1, unique N-terminal domain
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA fbn2a-202 (1)    Ensembl 4067
    ncRNA fbn2a-002 (1)    Ensembl 325
    Browsers: EnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM fbn2a No data available
    MARKER RELATIONSHIPS
    fbn2a Contained in: [BAC] CH211-145F8 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:XM_021479287 (1)
    Genomic GenBank:CT027815 (1) 112009 bp
    Select Tool
    Polypeptide UniProtKB:F1QNG9 (1) 2760 aa
    Sequence Information (all 14)
    ORTHOLOGY for fbn2a ( Chr: 10 )
    CITATIONS (16)