FGFR3

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Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)
Available structures
PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB
Identifiers
Symbols FGFR3 ; ACH; CD333; CEK2; HSFGFR3EX; JTK4
External IDs OMIM: 134934 MGI95524 HomoloGene55437
EC number 2.7.1.112
RNA expression pattern
PBB GE FGFR3 204379 s at tn.png
PBB GE FGFR3 204380 s at tn.png
More reference expression data
Orthologs

| | bgcolor="#C3FDB8" | Human | bgcolor="#C3FDB8" | Mouse |-

    | bgcolor="#C3FDB8" | Entrez 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 2261
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 14184

|-

     | bgcolor="#C3FDB8" | Ensembl
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSG00000068078
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSMUSG00000054252

|-

    | bgcolor="#C3FDB8" | Uniprot
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| P22607
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| Q3TQL1

|-

    | bgcolor="#C3FDB8" | Refseq
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" | NM_000142 (mRNA)
NP_000133 (protein)
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" |NM_008010 (mRNA)
NP_032036 (protein)

|-

    | bgcolor="#C3FDB8" | Location
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 4: 1.76 - 1.78 Mb 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 5: 34.04 -  34.05 Mb 

|-

|-

    | bgcolor="#C3FDB8" | Pubmed search 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [1]
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [2]
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism), also known as FGFR3, is a human gene. The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. Alternative splicing occurs and additional variants have been described, including those utilizing alternate exon 8 rather than 9, but their full-length nature has not been determined.[1] FGFR3 has been associated with several conditions, including:

See also

References

  1. "Entrez Gene: FGFR3 fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)".
  2. Hafner C, Hartmann A, Vogt T (2007). "FGFR3 mutations in epidermal nevi and seborrheic keratoses: lessons from urothelium and skin". J. Invest. Dermatol. 127 (7): 1572–3. doi:10.1038/sj.jid.5700772. PMID 17568799.
  3. Lamy A, Gobet F, Laurent M; et al. (2006). "Molecular profiling of bladder tumors based on the detection of FGFR3 and TP53 mutations". J. Urol. 176 (6 Pt 1): 2686–9. doi:10.1016/j.juro.2006.07.132. PMID 17085196.

Further reading

  • Schweitzer DN, Graham JM, Lachman RS; et al. (2001). "Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3". Am. J. Med. Genet. 98 (1): 75–91. PMID 11426459.
  • Horton WA, Lunstrum GP (2003). "Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism". Reviews in endocrine & metabolic disorders. 3 (4): 381–5. PMID 12424440.
  • Bonaventure J, Silve C (2006). "[Hereditary skeletal dysplasias and FGFR3 and PTHR1 signaling pathways]". Med Sci (Paris). 21 (11): 954–61. PMID 16274647.
  • Hernández S, Toll A, Baselga E; et al. (2007). "Fibroblast growth factor receptor 3 mutations in epidermal nevi and associated low grade bladder tumors". J. Invest. Dermatol. 127 (7): 1664–6. doi:10.1038/sj.jid.5700705. PMID 17255960.

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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