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ZIRC
ZFIN ID: ZDB-GENE-061212-2
Gene Name: elastin b
Gene Symbol: elnb    Nomenclature History

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Previous Names: eln2 (1), tropoelastin (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 21 Mapping Details/Browsers
Description: Predicted to have extracellular matrix structural constituent. Predicted to localize to the elastic fiber. Human ortholog(s) of this gene implicated in several diseases, including aortic disease (multiple); cutis laxa (multiple); retinal disease (multiple); rheumatic disease (multiple); and vasculitis (multiple). Is expressed in bulbus arteriosus; cranium; swim bladder; and ventral aorta. Orthologous to human ELN (elastin).
Genome Resources: Alliance (1),  Gene:558461 (1),  Ensembl(GRCz11):ENSDARG00000069017 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa24024 Point Mutation Unknown Unknown ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa37373 Point Mutation Unknown Unknown ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    DISEASE ASSOCIATED WITH elnb HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    autosomal dominant cutis laxa 1 Alliance Cutis laxa, autosomal dominant 123700
    supravalvular aortic stenosis Alliance Supravalvar aortic stenosis 185500
    DISEASE ASSOCIATED WITH elnb VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process biological_process (more)
    Cellular Component collagen-containing extracellular matrix (more)
    Molecular Function extracellular matrix structural constituent (more)
    GO Terms (all 3)
    PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR003979 (1)
  • TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA elnb-202 (1)    Ensembl 6204
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab1-elnb polyclonal IgG Rabbit IHC 9
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM elnb
    Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
    TgBAC(elnb:LOXP-AmCyan-LOXP-ZsYellow) elnb AmCyanZsYellow Danio rerio 1 4
    MARKER RELATIONSHIPS
    elnb Contained in: [BAC] CH211-13L22 (1) (order this), CH211-179G4 (1) (order this), DKEY-83D6 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001048064 (1) 6207 bp
    Genomic GenBank:CU302322 (1) 218024 bp Blast at MegaBLAST
    Polypeptide UniProtKB:Q0Q5Z0 (1) 2054 aa
    Sequence Clusters UniGene:154176 (1)
    Sequence Information (all 154)
    ORTHOLOGY for elnb ( Chr: 21 )
    CITATIONS (25)