• Gene id: 2260

Gene Summary

• Gene Symbol: FGFR1   Gene   UCSC   Ensembl
• Aliases: BFGFR, CD331, CEK, ECCL, FGFBR, FGFR-1, FLG, FLT-2, FLT2, HBGFR, HH2, HRTFDS, KAL2, N-SAM, OGD, bFGF-R-1
• Gene name: fibroblast growth factor receptor 1
• Alternate names: fibroblast growth factor receptor 1, FGFR1/PLAG1 fusion, FMS-like tyrosine kinase 2, basic fibroblast growth factor receptor 1, fms-related tyrosine kinase 2, heparin-binding growth factor receptor, hydroxyaryl-protein kinase, proto-oncogene c-Fgr,
• Gene location: 8p11.23 (84515188: 83956845)     Exons: 25     NC_000007.14
• Gene summary(Entrez): The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affini
• OMIM: 136350

Protein Summary

• Protein general information: P11362  
  • Name: Fibroblast growth factor receptor 1 (FGFR 1) (EC 2.7.10.1) (Basic fibroblast growth factor receptor 1) (BFGFR) (bFGF R 1) (Fms like tyrosine kinase 2) (FLT 2) (N sam) (Proto oncogene c Fgr) (CD antigen CD331)
  • Length: 822  
  • Mass: 91,868
• Sequence:

  MWSWKCLLFWAVLVTATLCTARPSPTLPEQAQPWGAPVEVESFLVHPGDLLQLRCRLRDDVQSINWLRDGVQLAE
  SNRTRITGEEVEVQDSVPADSGLYACVTSSPSGSDTTYFSVNVSDALPSSEDDDDDDDSSSEEKETDNTKPNRMP
  VAPYWTSPEKMEKKLHAVPAAKTVKFKCPSSGTPNPTLRWLKNGKEFKPDHRIGGYKVRYATWSIIMDSVVPSDK
  GNYTCIVENEYGSINHTYQLDVVERSPHRPILQAGLPANKTVALGSNVEFMCKVYSDPQPHIQWLKHIEVNGSKI
  GPDNLPYVQILKTAGVNTTDKEMEVLHLRNVSFEDAGEYTCLAGNSIGLSHHSAWLTVLEALEERPAVMTSPLYL
  EIIIYCTGAFLISCMVGSVIVYKMKSGTKKSDFHSQMAVHKLAKSIPLRRQVTVSADSSASMNSGVLLVRPSRLS
  SSGTPMLAGVSEYELPEDPRWELPRDRLVLGKPLGEGCFGQVVLAEAIGLDKDKPNRVTKVAVKMLKSDATEKDL
  SDLISEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLQARRPPGLEYCYNPSHNPEEQLSSKDL
  VSCAYQVARGMEYLASKKCIHRDLAARNVLVTEDNVMKIADFGLARDIHHIDYYKKTTNGRLPVKWMAPEALFDR
  IYTHQSDVWSFGVLLWEIFTLGGSPYPGVPVEELFKLLKEGHRMDKPSNCTNELYMMMRDCWHAVPSQRPTFKQL
  VEDLDRIVALTSNQEYLDLSMPLDQYSPSFPDTRSSTCSSGEDSVFSHEPLPEEPCLPRHPAQLANGGLKRR

• Structural information:
  • Protein Domains: Ig-like (25-119)
    Ig-like (158-246)
    Ig-like (255-357)
    Protein (478-767)
  • Interpro: IPR028174  IPR016248  IPR007110  IPR036179  IPR013783   IPR013098  IPR003599  IPR003598  IPR013151  IPR011009  IPR000719  IPR017441  IPR001245  IPR008266  IPR020635  
  • Prosite: PS50835 PS00107 PS50011 PS00109
  • CDD: cd05098
  • PDB: 1AGW 1CVS 1EVT 1FGI 1FGK 1FQ9 1XR0 2CR3 2FGI 3C4F 3DPK 3GQI 3GQL 3JS2 3KRJ 3KRL 3KXX 3KY2 3OJV 3RHX 3TT0 4F63 4F64 4F65 4NK9 4NKA 4NKS 4RWI 4RWJ 4RWK 4RWL 4UWB 4UWC 4UWY 4V01 4V04 4V05 4WUN 4ZSA 5A46 5A4C 5AM6 5AM7 5B7V 5EW8 5FLF 5O49 5O4A 5UQ0 5UR1 5VND
  • PDBsum: 1AGW 1CVS 1EVT 1FGI 1FGK 1FQ9 1XR0 2CR3 2FGI 3C4F 3DPK 3GQI 3GQL 3JS2 3KRJ 3KRL 3KXX 3KY2 3OJV 3RHX 3TT0 4F63 4F64 4F65 4NK9 4NKA 4NKS 4RWI 4RWJ 4RWK 4RWL 4UWB 4UWC 4UWY 4V01 4V04 4V05 4WUN 4ZSA 5A46 5A4C 5AM6 5AM7 5B7V 5EW8 5FLF 5O49 5O4A 5UQ0 5UR1 5VND
  • DIP: 4019
  • STRING: ENSP00000393312
• Other Databases: GeneCards:  FGFR1  Malacards:  FGFR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0001501	skeletal system development	TAS	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0001657	ureteric bud development	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001759	organ induction	IEA	biological process
GO:0001764	neuron migration	TAS	biological process
GO:0001948	glycoprotein binding	IEA	molecular function
GO:0002053	positive regulation of mesenchymal cell proliferation	IEA	biological process
GO:0002062	chondrocyte differentiation	IEA	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:0005007	fibroblast growth factor-activated receptor activity	IDA	molecular function
GO:0005007	fibroblast growth factor-activated receptor activity	IDA	molecular function
GO:0005007	fibroblast growth factor-activated receptor activity	TAS	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	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	NAS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	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: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:0006351	transcription, DNA-templated	IEA	biological process
GO:0006468	protein phosphorylation	NAS	biological process
GO:0006468	protein phosphorylation	NAS	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0008201	heparin binding	IDA	molecular function
GO:0008284	positive regulation of cell proliferation	IMP	biological process
GO:0008284	positive regulation of cell proliferation	IDA	biological process
GO:0008284	positive regulation of cell proliferation	IGI	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	IPI	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:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0010518	positive regulation of phospholipase activity	TAS	biological process
GO:0010863	positive regulation of phospholipase C activity	IDA	biological process
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016303	1-phosphatidylinositol-3-kinase activity	TAS	molecular function
GO:0016477	cell migration	TAS	biological process
GO:0017134	fibroblast growth factor binding	IDA	molecular function
GO:0017134	fibroblast growth factor binding	IDA	molecular function
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0019827	stem cell population maintenance	IEA	biological process
GO:0021837	motogenic signaling involved in postnatal olfactory bulb interneuron migration	IEA	biological process
GO:0021847	ventricular zone neuroblast division	IEA	biological process
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0030901	midbrain development	IEA	biological process
GO:0031175	neuron projection development	IEA	biological process
GO:0032403	protein complex binding	IEA	molecular function
GO:0035607	fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development	IEA	biological process
GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0042473	outer ear morphogenesis	IEA	biological process
GO:0042474	middle ear morphogenesis	IEA	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0043009	chordate embryonic development	TAS	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0043406	positive regulation of MAP kinase activity	IDA	biological process
GO:0043406	positive regulation of MAP kinase activity	IDA	biological process
GO:0043410	positive regulation of MAPK cascade	IMP	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0045595	regulation of cell differentiation	TAS	biological process
GO:0045666	positive regulation of neuron differentiation	IMP	biological process
GO:0045668	negative regulation of osteoblast differentiation	IEA	biological process
GO:0045787	positive regulation of cell cycle	IEA	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:0048015	phosphatidylinositol-mediated signaling	TAS	biological process
GO:0048339	paraxial mesoderm development	IEA	biological process
GO:0048378	regulation of lateral mesodermal cell fate specification	IEA	biological process
GO:0048469	cell maturation	IEA	biological process
GO:0048705	skeletal system morphogenesis	TAS	biological process
GO:0048762	mesenchymal cell differentiation	IEA	biological process
GO:0050839	cell adhesion molecule binding	IEA	molecular function
GO:0051930	regulation of sensory perception of pain	IEA	biological process
GO:0060045	positive regulation of cardiac muscle cell proliferation	IEA	biological process
GO:0060117	auditory receptor cell development	IEA	biological process
GO:0060445	branching involved in salivary gland morphogenesis	IEA	biological process
GO:0060484	lung-associated mesenchyme development	IEA	biological process
GO:0060665	regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	IEA	biological process
GO:0090080	positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway	IEA	biological process
GO:2000546	positive regulation of endothelial cell chemotaxis to fibroblast growth factor	IDA	biological process
GO:2001239	regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
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:0001525	angiogenesis	IEA	biological process
GO:0001657	ureteric bud development	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001759	organ induction	IEA	biological process
GO:0001764	neuron migration	TAS	biological process
GO:0001948	glycoprotein binding	IEA	molecular function
GO:0002053	positive regulation of mesenchymal cell proliferation	IEA	biological process
GO:0002062	chondrocyte differentiation	IEA	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: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	IDA	molecular function
GO:0005007	fibroblast growth factor-activated receptor activity	IDA	molecular function
GO:0005007	fibroblast growth factor-activated receptor activity	TAS	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	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	NAS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IEA	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: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:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	NAS	biological process
GO:0006468	protein phosphorylation	NAS	biological process
GO:0007420	brain development	IEA	biological process
GO:0007435	salivary gland morphogenesis	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0008201	heparin binding	IEA	molecular function
GO:0008201	heparin binding	IDA	molecular function
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	IDA	biological process
GO:0008284	positive regulation of cell proliferation	IGI	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	IPI	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:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010518	positive regulation of phospholipase activity	TAS	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0010863	positive regulation of phospholipase C activity	IDA	biological process
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0014068	positive 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:0016021	integral component of membrane	NAS	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016021	integral component of membrane	NAS	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:0016477	cell migration	TAS	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0017134	fibroblast growth factor binding	IEA	molecular function
GO:0017134	fibroblast growth factor binding	IDA	molecular function
GO:0017134	fibroblast growth factor binding	IDA	molecular function
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0019827	stem cell population maintenance	IEA	biological process
GO:0021769	orbitofrontal cortex development	IEA	biological process
GO:0021837	motogenic signaling involved in postnatal olfactory bulb interneuron migration	IEA	biological process
GO:0021847	ventricular zone neuroblast division	IEA	biological process
GO:0021954	central nervous system neuron development	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0030901	midbrain development	IEA	biological process
GO:0031175	neuron projection development	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0032403	protein complex binding	IEA	molecular function
GO:0035607	fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development	IEA	biological process
GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process	IEA	biological process
GO:0042127	regulation of cell proliferation	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0042473	outer ear morphogenesis	IEA	biological process
GO:0042474	middle ear morphogenesis	IEA	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0043009	chordate embryonic development	TAS	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0043406	positive regulation of MAP kinase activity	IDA	biological process
GO:0043406	positive regulation of MAP kinase activity	IDA	biological process
GO:0043410	positive regulation of MAPK cascade	IMP	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0045595	regulation of cell differentiation	TAS	biological process
GO:0045666	positive regulation of neuron differentiation	IMP	biological process
GO:0045668	negative regulation of osteoblast differentiation	IEA	biological process
GO:0045787	positive regulation of cell cycle	IEA	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:0048015	phosphatidylinositol-mediated signaling	TAS	biological process
GO:0048339	paraxial mesoderm development	IEA	biological process
GO:0048378	regulation of lateral mesodermal cell fate specification	IEA	biological process
GO:0048469	cell maturation	IEA	biological process
GO:0048514	blood vessel morphogenesis	IEA	biological process
GO:0048699	generation of neurons	IEA	biological process
GO:0048705	skeletal system morphogenesis	TAS	biological process
GO:0048762	mesenchymal cell differentiation	IEA	biological process
GO:0050839	cell adhesion molecule binding	IEA	molecular function
GO:0051930	regulation of sensory perception of pain	IEA	biological process
GO:0060045	positive regulation of cardiac muscle cell proliferation	IEA	biological process
GO:0060117	auditory receptor cell development	IEA	biological process
GO:0060445	branching involved in salivary gland morphogenesis	IEA	biological process
GO:0060484	lung-associated mesenchyme development	IEA	biological process
GO:0060665	regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	IEA	biological process
GO:0072091	regulation of stem cell proliferation	IEA	biological process
GO:0090080	positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway	IEA	biological process
GO:2000546	positive regulation of endothelial cell chemotaxis to fibroblast growth factor	IDA	biological process
GO:2001239	regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0001501	skeletal system development	TAS	biological process
GO:0001764	neuron migration	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:0005007	fibroblast growth factor-activated receptor activity	TAS	molecular function
GO:0005007	fibroblast growth factor-activated receptor activity	IDA	molecular function
GO:0005007	fibroblast growth factor-activated receptor activity	IDA	molecular function
GO:0005007	fibroblast growth factor-activated receptor activity	TAS	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	NAS	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: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:0006468	protein phosphorylation	NAS	biological process
GO:0006468	protein phosphorylation	NAS	biological process
GO:0008201	heparin binding	IDA	molecular function
GO:0008284	positive regulation of cell proliferation	IMP	biological process
GO:0008284	positive regulation of cell proliferation	IDA	biological process
GO:0008284	positive regulation of cell proliferation	IGI	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	IPI	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:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0010518	positive regulation of phospholipase activity	TAS	biological process
GO:0010863	positive regulation of phospholipase C activity	IDA	biological process
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016303	1-phosphatidylinositol-3-kinase activity	TAS	molecular function
GO:0016477	cell migration	TAS	biological process
GO:0017134	fibroblast growth factor binding	IDA	molecular function
GO:0017134	fibroblast growth factor binding	IDA	molecular function
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0043009	chordate embryonic development	TAS	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0043406	positive regulation of MAP kinase activity	IDA	biological process
GO:0043406	positive regulation of MAP kinase activity	IDA	biological process
GO:0043410	positive regulation of MAPK cascade	IMP	biological process
GO:0045595	regulation of cell differentiation	TAS	biological process
GO:0045666	positive regulation of neuron differentiation	IMP	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:0048015	phosphatidylinositol-mediated signaling	TAS	biological process
GO:0048705	skeletal system morphogenesis	TAS	biological process
GO:2000546	positive regulation of endothelial cell chemotaxis to fibroblast growth factor	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa04520	Adherens junction
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa04810	Regulation of actin cytoskeleton
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04714	Thermogenesis
hsa05200	Pathways in cancer
hsa05205	Proteoglycans in cancer
hsa05230	Central carbon metabolism in cancer
hsa05218	Melanoma
hsa05215	Prostate cancer
hsa05224	Breast cancer

Diseases

Associated diseases	References
Cancer	GAD: 18415014
Cancer (thyroid)	GAD: 19730683
Cancer (breast)	GAD: 18415014
Hypertension	GAD: 20717167
Osteoglophonic dysplasia	OMIM: 136350, KEGG: H00443
Nonsyndromic cleft lip	GAD: 19727229
Cleft defects	GAD: 19727229
Craniosynostosis	KEGG: H00458
Bronchial hyperreactivity	GAD: 18315732
Bone diseases	GAD: 19453261
Encephalocraniocutaneous lipomatosis	OMIM: 136350
Alzheimer's disease	GAD: 19141999
Schizophrenia	GAD: 17893707
Amenorrhoea	GAD: 21247312
Hypogonadotropic hypogonadism	INFBASE: 24776628
Female infertility	INFBASE: 24776628
Cryptorchidism	MIK: 25619354
Male factor infertility	MIK: 25064402
Kallmann syndrome (KS)	MIK: 16757108
Unilateral or bilateral cryptorchidism	MIK: 20389169
Kallmann syndrome (KS)	MIK: 18160472
Congenital hypogonadotropic hypogonadism (CHH)	INFBASE: 25394172
Hypogonadotropic hypogonadism	GAD: 18682503
Kallmann syndrome (KS)	GAD: 18682503
Hypogonadotropic hypogonadism	KEGG: H00255, MIK: 5064402, OMIM: 136350
Azoospermia	MIK: 16061567
Tooth agenesis	GAD: 17318851
Acrocephalosyndactylia	GAD: 18216705
Endometriosis-related dysmenorrhea	INFBASE: 25500535
Trigonocephaly	KEGG: H01207
Jackson-Weiss syndrome	OMIM: 136350
Pfeiffer syndrome	OMIM: 136350, KEGG: H01756
Hartsfield syndrome	OMIM: 136350
Isolated orofacial clefts	KEGG: H00516
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Associated with normal speramtogenesis	MIK: 16352663
Congenital hypogonadotropic hypogonadism (CHH)	MIK: 25394172
Congenital isolated hypogonadotropic hypogonadism (IHH)	MIK: 16882753
Cryptorchidism	MIK: 27561106
Male infertility	MIK: 27561106
Azoospermia	MIK: 16061567
Idiopathic hypogonadotrophic hypogonadism	MIK: 23276709
Kallmann syndrome	MIK: 16757108
Teratozoospermia	MIK: 17327269
Unilateral or bilateral cryptorchidism	MIK: 20389169

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23276709	Idiopathic hypogonadotrophic hypogonadism	FGFR1 (R254W and R254Q)		2 GnRH deficient probands	Male infertility, Female infertility
19820032	Idiopathic hypogonadotropic hypogonadism (IHH)			404 (134 well-characterized nIHH patients (112 men and 22 women) and 270 healthy controls)	Male infertility, Female infertility
20389169	Unilateral or bilateral cryptorchidism			22 (16 cryptorchid, 6 descended testes)	Male infertility	FGFR1 SOS1  RAF1
26031747	Kallmann syndrome, idiopathic hypogonadotropic hypogonadism (idiopathic hypogonadotropic hypogonadism)	KAL1 p.R191ter (pedigree 1); homozygous KAL1 p.C13ter (pedigree 2; a novel mutation); heterozygous FGFR1p.R250W (pedigree 3); and homozygous PROKR2 p.Y113H	Chinese	270 (70 sporadic Kallmann syndrome cases, 200 Chinese healthy controls)	Male infertility, Female infertility
16061567	Hypogonadotropic hypogonadism, azoospermia, male infertility, Kallmann syndrome	46,XY,t(7;8)(p12.3;p11.2)		1 Hypogonadotropic hypogonadism	Male infertility
26277103	Kallmann syndrome, idiopathic hypogonadotropic hypogonadism (IHH)	(p.Pro33-Alafs*17 and p.Tyr654*) and missense mutations in the signal peptide (p.Trp4Cys), in the D1 extracellular domain (p.Ser96Cys) and in the cytoplasmic tyrosine kinase domain (p.Met719Val), exon 8A (p.Ala353Thr)		250 (21 with Kallmann syndrome, 29 with normosmic IHH, 200 controls)	Male infertility, Female infertility
16606836	KS, nIHH	P722H, N724K, Q680X, G237S		7 IHH subjects	Male infertility, Female infertility
21543378	Kallmann syndrome, idiopathic hypogonadotropic hypogonadism (IHH)	necdin (p.V318A), FGFR1 (p.P366L)	Brazili an	320 (160 Brazilian patients with IHH, which includes 92 with Kallmann syndrome and 68 with normosmic IHH)	Male infertility, Female infertility	Necdin (NDN) FGFR1
16882753	Congenital isolated hypogonadotropic hypogonadism (IHH)	FGFR1 mutations (G48S, L245P, R250W, A343V, P366L, K618fsX654, P722S, and V795I)		80 (30 familial, 46 with had olfactory abnormalities)	Male infertility, Female infertility	KAL1 FGFR1
17200176	Kallmann syndrome (KS), idiopathic hypogonadotropic hypogonadism (IHH)	Arg622X		107 (4 with complete IHH, 3 with unaffected members or 100 controls)	Male infertility
25619354	IHH/KS, cryptorchidism	KAL1(c.1062+1G>A), FGFR1 (c.27delC)		71 (50 controls, 21 IHH)	Male infertility	KAL1 FGFR1
25501157	Kallmann syndrome, normosmic idiopathic hypogonadotropic hypogonadism (nIHH)	1422 C>G, and a C?G transition in codon 476, which resulted in the replacement of aspartic acid with glutamic acid.	Chinese	1 Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism (nIHH)	Male infertility
25394172	Congenital hypogonadotropic hypogonadism (CHH)	p.V429E, p.G348R, p.G485R, p.Q594*, p.E670A, p.V688L, or p.L712P		8 with CHH (3 Kallmann syndrome, 5 without insomnia)	Male infertility
25064402	Hypogonadotropic hypogonadism (HH)			58 patients with isolated HH (IHH), combined pituitary hormone deficiency (CPHD), and syndromic HH	Male infertility
18160472	Kallmann's syndrome (KS)	Mutations in KAL1, FGFR1/KAL2		39 (21 had mutations in KAL1 and 18 in FGFR1/KAL2)	Male infertility	KAL1 FGFR1/KAL2
18160472	Kallmann's syndrome (KS)	Mutations in KAL1, FGFR1/KAL2		39 (21 had mutations in KAL1 and 18 in FGFR1/KAL2)	Male infertility	KAL1 FGFR1/KAL2
17235395	Idiopathic hypogonadotropic hypogonadism (IHH)	FGFR1 mutation		2 families one with Kallmann syndrome (IHH and anosmia) and another with normosmic IHH,	Male infertility	FGFR1 LHRH factor (NELF) GNRHR
16757108	Kallmann syndrome	Cys178Ser, Arg622Gly,  Arg622Gln		5 (3 Kallmann syndrome, 2 micropenis and cryptorchidism)	Male infertility
16352663	Associated with normal speramtogenesis				Male infertility
27561106	Cryptorchidism, Male infertility			15 (7 high fertility risk, 8 low fertility risk )	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
30477624	Hypogonadotropic hypogonadism	c.1097C>T(p.P366L) and c.809G>C(p.G270A), c.1877_1887/p.S627Tfs*6		4 boys and 1 girl with KS	Male infertility