• Gene id: 2261

Gene Summary

• Gene Symbol: FGFR3   Gene   UCSC   Ensembl
• Aliases: ACH, CD333, CEK2, HSFGFR3EX, JTK4
• Gene name: fibroblast growth factor receptor 3
• Alternate names: fibroblast growth factor receptor 3, FGFR-3, fibroblast growth factor receptor 3 variant 4, hydroxyaryl-protein kinase, tyrosine kinase JTK4,
• Gene location: 4p16.3 (1793298: 1808871)     Exons: 19     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 134934

Protein Summary

• Protein general information: P22607  
  • Name: Fibroblast growth factor receptor 3 (FGFR 3) (EC 2.7.10.1) (CD antigen CD333)
  • Length: 806  
  • Mass: 87,710
• Sequence:

  MGAPACALALCVAVAIVAGASSESLGTEQRVVGRAAEVPGPEPGQQEQLVFGSGDAVELSCPPPGGGPMGPTVWV
  KDGTGLVPSERVLVGPQRLQVLNASHEDSGAYSCRQRLTQRVLCHFSVRVTDAPSSGDDEDGEDEAEDTGVDTGA
  PYWTRPERMDKKLLAVPAANTVRFRCPAAGNPTPSISWLKNGREFRGEHRIGGIKLRHQQWSLVMESVVPSDRGN
  YTCVVENKFGSIRQTYTLDVLERSPHRPILQAGLPANQTAVLGSDVEFHCKVYSDAQPHIQWLKHVEVNGSKVGP
  DGTPYVTVLKTAGANTTDKELEVLSLHNVTFEDAGEYTCLAGNSIGFSHHSAWLVVLPAEEELVEADEAGSVYAG
  ILSYGVGFFLFILVVAAVTLCRLRSPPKKGLGSPTVHKISRFPLKRQVSLESNASMSSNTPLVRIARLSSGEGPT
  LANVSELELPADPKWELSRARLTLGKPLGEGCFGQVVMAEAIGIDKDRAAKPVTVAVKMLKDDATDKDLSDLVSE
  MEMMKMIGKHKNIINLLGACTQGGPLYVLVEYAAKGNLREFLRARRPPGLDYSFDTCKPPEEQLTFKDLVSCAYQ
  VARGMEYLASQKCIHRDLAARNVLVTEDNVMKIADFGLARDVHNLDYYKKTTNGRLPVKWMAPEALFDRVYTHQS
  DVWSFGVLLWEIFTLGGSPYPGIPVEELFKLLKEGHRMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDLDR
  VLTVTSTDEYLDLSAPFEQYSPGGQDTPSSSSSGDDSVFAHDLLPPAPPSSGGSRT

• Structural information:
  • Protein Domains: Ig-like (24-126)
    Ig-like (151-244)
    Ig-like (253-355)
    Protein (472-761)
  • Interpro: IPR016248  IPR007110  IPR036179  IPR013783  IPR013098   IPR003599  IPR003598  IPR011009  IPR000719  IPR017441  IPR001245  IPR008266  IPR020635  
  • Prosite: PS50835 PS00107 PS50011 PS00109
  • PDB: 1RY7 2LZL 4K33
  • PDBsum: 1RY7 2LZL 4K33
  • DIP: 4016
  • STRING: ENSP00000339824
• Other Databases: GeneCards:  FGFR3  Malacards:  FGFR3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000165	MAPK cascade	TAS	biological process
GO:0001501	skeletal system development	TAS	biological process
GO:0001958	endochondral ossification	TAS	biological process
GO:0002062	chondrocyte differentiation	TAS	biological process
GO:0003416	endochondral bone growth	TAS	biological process
GO:0004713	protein tyrosine kinase activity	IDA	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0005007	fibroblast growth factor-activated receptor activity	IMP	molecular function
GO:0005088	Ras guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0007259	JAK-STAT cascade	TAS	biological process
GO:0007267	cell-cell signaling	IEA	biological process
GO:0008284	positive regulation of cell proliferation	IMP	biological process
GO:0008284	positive regulation of cell proliferation	IGI	biological process
GO:0008284	positive regulation of cell proliferation	IMP	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	IDA	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	IGI	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0010518	positive regulation of phospholipase activity	IMP	biological process
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0016303	1-phosphatidylinositol-3-kinase activity	TAS	molecular function
GO:0017134	fibroblast growth factor binding	IPI	molecular function
GO:0017134	fibroblast growth factor binding	IPI	molecular function
GO:0017134	fibroblast growth factor binding	IDA	molecular function
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0030133	transport vesicle	IDA	cellular component
GO:0030282	bone mineralization	ISS	biological process
GO:0035988	chondrocyte proliferation	TAS	biological process
GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process	IEA	biological process
GO:0042511	positive regulation of tyrosine phosphorylation of Stat1 protein	IMP	biological process
GO:0042511	positive regulation of tyrosine phosphorylation of Stat1 protein	IMP	biological process
GO:0042517	positive regulation of tyrosine phosphorylation of Stat3 protein	IMP	biological process
GO:0043410	positive regulation of MAPK cascade	IMP	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	IMP	biological process
GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	TAS	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0046934	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	TAS	molecular function
GO:0048015	phosphatidylinositol-mediated signaling	TAS	biological process
GO:0048640	negative regulation of developmental growth	ISS	biological process
GO:0060349	bone morphogenesis	TAS	biological process
GO:0060349	bone morphogenesis	ISS	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:0070977	bone maturation	ISS	biological process
GO:1902178	fibroblast growth factor receptor apoptotic signaling pathway	IMP	biological process
GO:0005925	focal adhesion	TAS	cellular component
GO:0000165	MAPK cascade	TAS	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0001501	skeletal system development	TAS	biological process
GO:0001958	endochondral ossification	TAS	biological process
GO:0002062	chondrocyte differentiation	TAS	biological process
GO:0003416	endochondral bone growth	TAS	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IDA	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IEA	molecular function
GO:0005007	fibroblast growth factor-activated receptor activity	IEA	molecular function
GO:0005007	fibroblast growth factor-activated receptor activity	IEA	molecular function
GO:0005007	fibroblast growth factor-activated receptor activity	TAS	molecular function
GO:0005007	fibroblast growth factor-activated receptor activity	IMP	molecular function
GO:0005088	Ras guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0007259	JAK-STAT cascade	TAS	biological process
GO:0007267	cell-cell signaling	IEA	biological process
GO:0008284	positive regulation of cell proliferation	IEA	biological process
GO:0008284	positive regulation of cell proliferation	IEA	biological process
GO:0008284	positive regulation of cell proliferation	IMP	biological process
GO:0008284	positive regulation of cell proliferation	IGI	biological process
GO:0008284	positive regulation of cell proliferation	IMP	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	IEA	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	IEA	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	IDA	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	IGI	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0010518	positive regulation of phospholipase activity	IMP	biological process
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0016303	1-phosphatidylinositol-3-kinase activity	TAS	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0017134	fibroblast growth factor binding	IEA	molecular function
GO:0017134	fibroblast growth factor binding	IPI	molecular function
GO:0017134	fibroblast growth factor binding	IPI	molecular function
GO:0017134	fibroblast growth factor binding	IDA	molecular function
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0030133	transport vesicle	IDA	cellular component
GO:0030282	bone mineralization	ISS	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0035988	chondrocyte proliferation	TAS	biological process
GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process	IEA	biological process
GO:0042511	positive regulation of tyrosine phosphorylation of Stat1 protein	IMP	biological process
GO:0042511	positive regulation of tyrosine phosphorylation of Stat1 protein	IMP	biological process
GO:0042517	positive regulation of tyrosine phosphorylation of Stat3 protein	IMP	biological process
GO:0043410	positive regulation of MAPK cascade	IMP	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	IMP	biological process
GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	TAS	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0046934	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	TAS	molecular function
GO:0048015	phosphatidylinositol-mediated signaling	TAS	biological process
GO:0048640	negative regulation of developmental growth	ISS	biological process
GO:0060349	bone morphogenesis	TAS	biological process
GO:0060349	bone morphogenesis	ISS	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:0070977	bone maturation	ISS	biological process
GO:1902178	fibroblast growth factor receptor apoptotic signaling pathway	IMP	biological process
GO:0005925	focal adhesion	TAS	cellular component
GO:0000165	MAPK cascade	TAS	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0001501	skeletal system development	TAS	biological process
GO:0001958	endochondral ossification	TAS	biological process
GO:0002062	chondrocyte differentiation	TAS	biological process
GO:0003416	endochondral bone growth	TAS	biological process
GO:0004713	protein tyrosine kinase activity	IDA	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0005007	fibroblast growth factor-activated receptor activity	TAS	molecular function
GO:0005007	fibroblast growth factor-activated receptor activity	IMP	molecular function
GO:0005088	Ras guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0007259	JAK-STAT cascade	TAS	biological process
GO:0008284	positive regulation of cell proliferation	IMP	biological process
GO:0008284	positive regulation of cell proliferation	IGI	biological process
GO:0008284	positive regulation of cell proliferation	IMP	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	IDA	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	IGI	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0010518	positive regulation of phospholipase activity	IMP	biological process
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0016303	1-phosphatidylinositol-3-kinase activity	TAS	molecular function
GO:0017134	fibroblast growth factor binding	IPI	molecular function
GO:0017134	fibroblast growth factor binding	IPI	molecular function
GO:0017134	fibroblast growth factor binding	IDA	molecular function
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0030133	transport vesicle	IDA	cellular component
GO:0030282	bone mineralization	ISS	biological process
GO:0035988	chondrocyte proliferation	TAS	biological process
GO:0042511	positive regulation of tyrosine phosphorylation of Stat1 protein	IMP	biological process
GO:0042511	positive regulation of tyrosine phosphorylation of Stat1 protein	IMP	biological process
GO:0042517	positive regulation of tyrosine phosphorylation of Stat3 protein	IMP	biological process
GO:0043410	positive regulation of MAPK cascade	IMP	biological process
GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	IMP	biological process
GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	TAS	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0046934	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	TAS	molecular function
GO:0048015	phosphatidylinositol-mediated signaling	TAS	biological process
GO:0048640	negative regulation of developmental growth	ISS	biological process
GO:0060349	bone morphogenesis	TAS	biological process
GO:0060349	bone morphogenesis	ISS	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:0070977	bone maturation	ISS	biological process
GO:1902178	fibroblast growth factor receptor apoptotic signaling pathway	IMP	biological process
GO:0005925	focal adhesion	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa04144	Endocytosis
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa04810	Regulation of actin cytoskeleton
hsa05200	Pathways in cancer
hsa05206	MicroRNAs in cancer
hsa05230	Central carbon metabolism in cancer
hsa05219	Bladder cancer
hsa01521	EGFR tyrosine kinase inhibitor resistance

Diseases

Associated diseases	References
CATSHL syndrome	KEGG: H00997
Cancer (myeloma)	GAD: 9763594
Cancer (pancreatic)	GAD: 19351817
Cancer (bladder)	KEGG: H00022
Cancer	GAD: 19843069
Cancer (bladder)	GAD: 16061860
Cancer (prostate)	GAD: 19377444
Cancer (Squamous cell)	GAD: 19327639
Cancer (transitional cell)	GAD: 18584939
Cancer (urinary bladder)	GAD: 19722178
Hypertension	GAD: 20717167
Thanatophoric dysplasia	KEGG: H01750
Cleft defects	GAD: 20634891
Craniosynostosis	GAD: 15915095
Multiple myeloma	KEGG: H00010
Achondroplasia	KEGG: H01749
Bone diseases	GAD: 19453261
Alzheimer's disease	GAD: 19141999
Klinefelter syndrome	MIK: 17554105
FGFR3-related short limb skeletal dysplasias	KEGG: H00505
Lacrimo-auriculo-dento-digital syndrome	KEGG: H00642
Crouzon syndrome	KEGG: H01754
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Klinefelter patient	MIK: 17554105
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17554105	Klinefelter patient	non-mosaic 47,XXY karyotype, 1138G>A mutation		1 Klinefelter syndrome	Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq