FGFR3

GENE INFORMATION

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Gene name

FGFR3 (HGNC Symbol)

Synonyms

ACH, CD333, CEK2, JTK4

Description

fibroblast growth factor receptor 3 (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. 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. Three alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Jul 2009]

Chromosome

4 (Chromosome progress)

Cytoband

p16.3

Chromosome location (bp)

1795034 - 1810599

Ensembl

ENSG00000068078 (version 73.37)

Entrez gene

2261

UniProt

P22607 (UniProt - Evidence at protein level)

neXtProt

NX_P22607

Antibodypedia

FGFR3 antibodies
 

PROTEIN VIEW

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FGFR3-001
 
FGFR3-002
 
FGFR3-006
 
FGFR3-007
 
FGFR3-201
 
FGFR3-202
 
FGFR3-203
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

FGFR3-001 ENSP00000260795
ENST00000260795
P22607
Show all »
Show » Show » 806 87.7 Yes 1
FGFR3-002 ENSP00000231803
ENST00000352904
P22607
Show all »
Show » Show » 694 75.7 Yes 0
FGFR3-006 ENSP00000420533
ENST00000481110
F8W9L4
Show all »
Show » Show » 792 85.2 Yes 1
FGFR3-007 ENSP00000427289
ENST00000507588
Q96T34
Show all »
Show » Show » 112 12.5 No 0
FGFR3-201 ENSP00000339824
ENST00000340107
P22607
Show all »
Show » Show » 808 88.2 Yes 1
FGFR3-202 ENSP00000412903
ENST00000412135
P22607
Show all »
Show » Show » 694 75.7 Yes 0
FGFR3-203 ENSP00000414914
ENST00000440486
P22607
Show all »
Show » Show » 806 87.7 Yes 1