ZFIN ID: ZDB-GENE-000816-1
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Gene Name: fibroblast growth factor receptor 3
Gene Symbol: fgfr3    Nomenclature History

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Previous Names: Z-FGFR3, fc27h01, sb:eu563, wu:fc27h01 (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 13 Mapping Details/Browsers
Description: Predicted to have fibroblast growth factor binding activity and fibroblast growth factor-activated receptor activity. Involved in regulation of hematopoietic stem cell differentiation. Predicted to localize to the integral component of plasma membrane and receptor complex. Human ortholog(s) of this gene implicated in several diseases, including LADD syndrome; SADDAN; acanthosis nigricans; bone disease (multiple); and camptodactyly-tall stature-scoliosis-hearing loss syndrome. Is expressed in several structures, including cranium; integument; nervous system; neural rod; and neural tube. Orthologous to human FGFR3 (fibroblast growth factor receptor 3).
Genome Resources: Alliance (1),  Gene:58129 (1),  Ensembl(GRCz11):ENSDARG00000004782 (1)
GENE EXPRESSION
All Expression Data: 48 figures from 29 publications
Directly Submitted Expression Data: 6 figures (17 images) from Thisse et al., 2005 [eu563]
Wild-type Stages, Structures: Zygote:1-cell (0.0h-0.75h) to Adult (90d-730d, breeding adult)
 
Curated Microarray Expression: GEO (1) , Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
la010237Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
    • la018391Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
    • sa273 Point Mutation Unknown Premature Stop ENU
    sa1675 Point Mutation Unknown Splice Site ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
    • sa9259 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
    • sa10458 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
    • sa13480 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
    • sa15832 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
    • sa28078 Point Mutation Unknown Splice Site ENU
    sa35442 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
    • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    CRISPR1-fgfr3
    		1
    MO1-fgfr3 N/A 1
    MO2-fgfr3 N/A 1
    PHENOTYPE
    Data: Fig. S4 from Pouget et al., 2014
    Observed in:
    DISEASE ASSOCIATED WITH fgfr3 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    achondroplasia Alliance Achondroplasia 100800
    camptodactyly-tall stature-scoliosis-hearing loss syndrome Alliance CATSHL syndrome 610474
    cervical cancer Alliance Cervical cancer, somatic 603956
    colorectal cancer Alliance Colorectal cancer, somatic 114500
    Crouzon syndrome-acanthosis nigricans syndrome Alliance Crouzon syndrome with acanthosis nigricans 612247
    epidermal nevus Alliance Nevus, epidermal, somatic 162900
    hypochondroplasia Alliance Hypochondroplasia 146000
    LADD syndrome Alliance LADD syndrome 149730
    Muenke Syndrome Alliance Muenke syndrome 602849
    SADDAN Alliance SADDAN 616482
    testicular germ cell cancer Alliance Spermatocytic seminoma, somatic 273300
    thanatophoric dysplasia Alliance Thanatophoric dysplasia, type I 187600
    Thanatophoric dysplasia, type II 187601
    urinary bladder cancer Alliance Bladder cancer, somatic 109800
    DISEASE ASSOCIATED WITH fgfr3 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process regulation of hematopoietic stem cell differentiation (more)
    Cellular Component integral component of membrane (more)
    Molecular Function ATP binding (more)
    GO Terms (all 24)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Domain IPR000719 Protein kinase domain
    Domain IPR001245 Serine-threonine/tyrosine-protein kinase, catalytic domain
    Domain IPR003598 Immunoglobulin subtype 2
    Domain IPR003599 Immunoglobulin subtype
    Domain IPR007110 Immunoglobulin-like domain
    Active_site IPR008266 Tyrosine-protein kinase, active site
    Homologous_superfamily IPR011009 Protein kinase-like domain superfamily
    Domain IPR013098 Immunoglobulin I-set
    Homologous_superfamily IPR013783 Immunoglobulin-like fold
    Family IPR016248 Fibroblast growth factor receptor family
    Binding_site IPR017441 Protein kinase, ATP binding site
    Domain IPR020635 Tyrosine-protein kinase, catalytic domain
    Homologous_superfamily IPR036179 Immunoglobulin-like domain superfamily
    Domain IPR041159 Fibroblast growth factor receptor, transmembrane domain
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA fgfr3-202 (1)    Ensembl 2999
    Select Tool
    fgfr3-203 (1)    Ensembl 3233
    Select Tool
    Browsers: UCSC,  NCBI,  Ensembl,  ZFIN
    INTERACTIONS AND PATHWAYS
    SignaFish
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM fgfr3 No data available
    MARKER RELATIONSHIPS
    fgfr3 Contained in: [BAC] CH73-92M9 (1), CH211-195N12 (1), DKEY-181A13 (1) (order this)
    fgfr3 Encodes: [EST] eu563 (1), fc27h01
    [cDNA] MGC:193660 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_131606 (1) 3002 bp
    Select Tool
    Genomic GenBank:CR556722 (1) 205873 bp Blast at MegaBLAST
    Polypeptide UniProtKB:F1QPA0 (1) 819 aa
    Select Tool
    Sequence Information (all 58)
    ORTHOLOGY for fgfr3 ( Chr: 13 )
    CITATIONS (94)