FGFR3

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Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)
Available structures: 1ry7
Identifiers
Symbol(s) FGFR3; ACH; CD333; CEK2; HSFGFR3EX; JTK4
External IDs OMIM: 134934 MGI: 95524 HomoloGene: 55437
EC number 2.7.1.112
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 2261 14184
Ensembl ENSG00000068078 ENSMUSG00000054252
Uniprot P22607 Q3TQL1
Refseq NM_000142 (mRNA)
NP_000133 (protein)		 NM_008010 (mRNA)
NP_032036 (protein)
Location Chr 4: 1.76 - 1.78 Mb Chr 5: 34.04 - 34.05 Mb
Pubmed search [1] [2]

Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism), also known as FGFR3, is a human gene. FGFR3 has also been designated as CD333 (cluster of differentiation 333).

Contents

[edit] Structure and function

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]

[edit] Disease linkage

Defects in the FGFR3 gene has been associated with several conditions, including:

[edit] See also

[edit] 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. 

[edit] 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. 
  • Olsen SK, et al. (2004). "Insights into the molecular basis for fibroblast growth factor receptor autoinhibition and ligand-binding promiscuity.". PNAS USA 101 (4): 935–40. PMID 14732692. 

[edit] External links

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

v • d • e
Proteins: clusters of differentiation (see also list of human clusters of differentiation)
1-50
CD1 (a-c, 1A, 1D, 1E) - CD2 - CD3 (γ, δ, ε) - CD4 - CD5 - CD6 - CD7 - CD8 (a) - CD9 - CD10 - CD11 (a, b, c) - CD13 - CD14 - CD15 - CD16 (A, B) - CD18 - CD19 - CD20 - CD21 - CD22 - CD23 - CD24 - CD25 - CD26 - CD27 - CD28 - CD29 - CD30 - CD31 - CD32 (A, B) - CD33 - CD34 - CD35 - CD36 - CD37 - CD38 - CD39 - CD40 - CD41- CD42 (a, b, c, d) - CD43 - CD44 - CD45 - CD46 - CD47 - CD48 - CD49 (a, b, c, d, e, f) - CD50
51-100
CD51 - CD52 - CD53 - CD54 - CD55 - CD56 - CD57- CD58 - CD59 - CD61 - CD62 (E, L, P) - CD63 - CD64 - CD66 (a, b, c, d, e, f) - CD68 - CD69 - CD70 - CD71 - CD72 - CD73 - CD74 - CD79 (a, b) - CD80 - CD81 - CD82 - CD83 - CD84 - CD85 (a, d, e, h, j, k) - CD86 - CD87 - CD88 - CD89 - CD90 - CD91- CD92 - CD93 - CD94 - CD95 - CD97 - CD98 - CD99 - CD100
101-150
CD101 - CD102 - CD103 - CD104 - CD105 - CD106 - CD107 (a, b) - CD108 - CD109 - CD110 - CD111 - CD112 - CD113 - CD114 - CD115 - CD116 - CD117 - CD118 - CD119 - CD120 (a, b) - CD121 (a, b) - CD122 - CD123 - CD124 - CD125 - CD126 - CD127 - CD129 - CD130 - CD131 - CD132 - CD133 - CD134 - CD135 - CD136 - CD137 - CD138 - CD140b - CD141 - CD142 - CD143 - CD144 - CD146 - CD147 - CD148 - CD150
151-200
CD151 - CD152 - CD153 - CD154 - CD155 - CD156 (a, b, c) - CD157 - CD158 (a, d, e, i, k) - CD159 (a, c) - CD160 - CD161 - CD162 - CD163 - CD164 - CD166 - CD167 (a, b) - CD168 - CD169 - CD170 - CD171 - CD172 (a, b, g) - CD174 - CD177 - CD178 - CD179 (a, b) - CD181 - CD182 - CD183 - CD184 - CD185 - CD186 - CD191 - CD192 - CD193 - CD194 - CD195 - CD196 - CD197 - CDw198 - CDw199 - CD200
201-250
CD201 - CD202b - CD204 - CD205 - CD206 - CD207 - CD208 - CD209 - CDw210 (a, b) - CD212 - CD213a (1, 2) - CD217 - CD218 (a, b) - CD220 - CD221 - CD222 - CD223 - CD224 - CD225 - CD226 - CD227 - CD228 - CD229 - CD230 - CD233 - CD234 - CD235 (a, b) - CD236 - CD238 - CD239 - CD240CE - CD241 - CD243 - CD244 - CD246 - CD247- CD248 - CD249
251-300
301-350
v • d • e
Transmembrane receptor, tyrosine kinase: receptor tyrosine kinases (EC 2.7.10.1)
I
II
III
IV
V
VII
other