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fibroblast growth factor receptor 3; FGFR-3; CD333 (FGFR3, JTK4)
Function:
- receptor for acidic & basic fibroblast growth factors
- preferentially binds FGF1
Structure:
- belongs to the protein kinase superfamily, Tyr protein kinase family, fibroblast growth factor receptor subfamily
- contains 3 Ig-like C2-type domain (immunoglobulin-like)
- contains 1 protein kinase domain
Compartment: membrane
Alternative splicing: named isoforms=3
Expression:
- expressed in brain, kidney & testis
- very low or no expression in spleen, heart, & muscle
- in 20- to 22-week old fetuses, it is expressed at high level in kidney, lung, small intestine & brain, & to a lower degree in spleen, liver, & muscle
- epithelial cells show exclusively isoform 2 transcripts
- fibroblastic cells express both isoform 1 & isoform 2
Pathology:
- defects in FGFR3 are the cause of
a) achondroplasia
b) Crouzon syndrome
c) platyspondylic lethal skeletal dysplasia San Diego type
d) thanatophoric dysplasia
e) hypochondroplasia
f) bladder cancer
g) cervical cancer
h) camptodactyly tall stature & hearing loss syndrome
- chromosomal translocation t(4;14)(p16.3;q32.3) involving FGFR3 with the IgH locus may be a cause of multiple myeloma
- defects in FGFR3 are a cause of
a) lacrimo-auriculo-dento-digital syndrome
b) keratinocytic non-epidermolytic nevus
c) Muenke syndrome
Laboratory:
- FGFR3 gene mutation
Related
FGFR2+FGFR3 gene mutations
FGFR3 gene mutation; fibroblast growth factor receptor (FGFR)-3 gene mutation
General
cluster-of-differentiation antigen; cluster designation antigen; CD antigen
fibroblast growth factor [FGF] receptor
glycoprotein
phosphoprotein
Properties
SIZE: entity length = 806 aa
MW = 88 kD
COMPARTMENT: cellular membrane
STATE: active state
MOTIF: signal sequence {1-22}
immunoglobulin superfamily domain {24-126}
MOTIF: cysteine residue {C61}
MODIFICATION: cysteine residue {C109}
N-glycosylation site {N98}
cysteine residue {C109}
MODIFICATION: cysteine residue {C61}
immunoglobulin superfamily domain {151-244}
MOTIF: cysteine residue {C176}
MODIFICATION: cysteine residue {C228}
N-glycosylation site {N225}
cysteine residue {C228}
MODIFICATION: cysteine residue {C176}
immunoglobulin superfamily domain {253-355}
MOTIF: N-glycosylation site {N262}
cysteine residue {C275}
MODIFICATION: cysteine residue {C339}
N-glycosylation site {N294}
N-glycosylation site {N315}
N-glycosylation site {N328}
cysteine residue {C339}
MODIFICATION: cysteine residue {C275}
transmembrane domain {376-396}
kinase domain
SITE: 472-761
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 478-486
ATP-binding site
NAME: ATP-binding site
SITE: 508-508
aspartate residue {D617}
Tyr phosphorylation site {Y647}
Tyr phosphorylation site {Y648}
Database Correlations
OMIM correlations
MORBIDMAP 134934
UniProt P22607
PFAM correlations
Entrez Gene 2261
KEGG correlations
ENZYME 2.7.10.1
References
- UniProt :accession P22607
- Atlas of genetics & cytogenetics in oncology& haematology
http://atlasgeneticsoncology.org/genes/FGFR99.html
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR3
- Cross M, Dexter TM.
Growth factors in development, transformation, and tumorigenesis.
Cell. 1991 Jan 25;64(2):271-80. Review.
PMID: 1988148
- Partanen J et al
FGFR-4, a novel acidic fibroblast growth factor receptor with
a distinct expression pattern.
EMBO J. 1991 Jun;10(6):1347-54.
PMID: 1709094