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FLASH GENE
Symbol FGF3 contributors: mct/np - updated : 15-09-2012
HGNC name fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)
HGNC id 3681
Corresponding disease
CDMM congenital deafness with inner ear agenesis (Michel aplasia), microtia, and microdontia
DUP11QP chromosome 11q proximal duplication
OTDD otodental dysplasia
Location 11q13.3      Physical location : 69.624.736 - 69.634.192
Synonym name
  • INT-2 proto-oncogene protein precursor
  • V-INT2 murine mammary tumor virus integration site oncogene homolog
  • murine mammary tumor virus integration site 2, mouse
  • oncogene INT2
    • Synonym symbol(s) HBGF-3, INT2
    DNA
    TYPE functioning gene
    STRUCTURE 9.45 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map see PYGM PYGM
    Physical map
    ALDH3B1 11q13 aldehyde dehydrogenase 3 family, member B1 NDUFS8 11q13 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) TCIRG1 11q13.4-q13.5 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3 CHK 11q13.1 choline kinase CGI-85 11q13 choline kinase C11orf24 11q13 chromosome 11 open reading frame 24 LRP5 11q13 low density lipoprotein receptor-related protein 5 C11orf23 11q13 chromosome 11 open reading frame 23 GAL 11q13.3-q13.5 galanin MTL5 11q13.2-q13.3 metallothionein-like 5, testis-specific (tesmin) CPT1A 11q13.1-q13.2 carnitine palmitoyltransferase 1A (liver) MRPL21 11q13.1 mitochondrial ribosomal protein L21 IGHMBP2 11q13.2-q13.4 immunoglobulin mu binding protein 2 MRGD 11 mas-related G protein-coupled MRGD MGC21621 11q13.1 G protein-coupled receptor MrgF TPCN2 11q13.1 two pore segment channel 2 LOC338694 11q13.2 hypothetical protein LOC338694 MYEOV 11q13.1 myeloma overexpressed gene (in a subset of t(11;14) positive multiple myelomas) LOC390218 11 similar to Interferon-induced transmembrane protein 3 (Interferon-inducible protein 1-8U) LOC220061 11q13.2 similar to proline rich antigen 2 CCND1 11q13.3 cyclin D1 (PRAD1: parathyroid adenomatosis 1) ORAOV1 11q13 oral cancer overexpressed 1 FGF19 11q13.1 fibroblast growth factor 19 FGF4 11q13.3 fibroblast growth factor 4 (heparin secretory transforming protein 1, Kaposi sarcoma oncogene) FGF3 11q13.3 fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog) ORAOV2 11q13.2 oral cancer overexpressed 2 FADD 11q13.3 Fas (TNFRSF6)-associated via death domain PPFIA1 11q13.3-q13.5 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 EMS1 11q13.3 ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate) SHANK2 11q11 SH3 and multiple ankyrin repeat domains 2 LOC220070 11q13.2 hypothetical protein BC004224 LOC341140 11q13.2 similar to Actin, alpha 1, skeletal muscle DHCR7 11q13.2-q13.5 7-dehydrocholesterol reductase NADSYN1 11q13.2 NAD synthetase 1 LOC57830 11q13.2 UHS KerB KRN1 11q13.5 keratin, cuticle, ultrahigh sulphur 1 LOC390219 11 LOC390219 OR7E3P 11q13 olfactory receptor, family 7, subfamily E, member 3 pseudogene LOC255620 11q13.2 hypothetical gene supported by NM_030930; AY007125
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 1548 26.8 239 - Riley (07)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, pregnancy
    Text during embryonic development of inner ear and tooth
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an hydrophobic signal peptide
  • a bipartite nuclear localization signal
  • a interleukin 1/heparin-binding growth factor motif
  • a S2 binding domains important for both NOBP and RPS2 interaction
    • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Fgf31
    ortholog to rattus fgf3
    homolog to chicken fgf3
    Homologene
    FAMILY
  • heparin-binding growth factors family
  • FGF7 subfamily
    • CATEGORY protooncogene
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nucleus
    basic FUNCTION
  • may be involved in ear development
  • nuclear form inhibits cell proliferation by interfering with ribosomal biogenesis
  • required for dorsal patterning and morphogenesis of the inner ear epithelium
  • FGF3 and FGF10 are not required for specification of cardiovascular progenitors, but rather for their normal developmental coordination
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • HNF1B, acts directly through FGF3, and promotes caudal hindbrain identity by activating MAFB and EGR2 via the RAS-ERK1/2 intracellular pathway
  • key role for FGF3, and a secondary role for FGF10, in WNT8A expression
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDMM , DUP11QP , OTDD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification    
    in esophageal squamous cell carcinoma, breast, head, and neck and lung carcinomas
    Susceptibility to nonsyndromic cleft lip and palate
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS