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Search Result

Gene id

2260

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (38468833: 38411137) Exons: 24 NC_000008.11

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 affinities and tissue distribution. A full-length representative protein consists 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 both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

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

Tissue specificity: Detected in astrocytoma, neuroblastoma and adrenal cortex cell lines. Some isoforms are detected in foreskin fibroblast cell lines, however isoform 17, isoform 18 and isoform 19 are not detected in these cells. {ECO

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 IPR013783 IPR013098 IPR003599 IPR003598 IPR013151 IPR011009 IPR000719 IPR017441 IPR001245 IPR008266 IPR020635
Prosite:	PS50835 PS00107 PS50011 PS00109
Pfam:	PF07679 PF00047 PF07714
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 5UQ0
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 5UQ0
DIP:	4019
MINT:	1499363
STRING:	ENSP00000393312;

Other Databases

GeneCards: FGFR1; Malacards: FGFR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000165	MAPK cascade	TAS	biological_process
GO:0001501	skeletal system developme nt	TAS	biological_process
GO:0001525	angiogenesis	IEA	biological_process
GO:0001657	ureteric bud development	IEA	biological_process
GO:0001701	in utero embryonic develo pment	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 me senchymal cell proliferat ion	IEA	biological_process
GO:0002062	chondrocyte differentiati on	IEA	biological_process
GO:0004713	protein tyrosine kinase a ctivity	IDA	molecular_function
GO:0004713	protein tyrosine kinase a ctivity	TAS	molecular_function
GO:0004713	protein tyrosine kinase a ctivity	TAS	molecular_function
GO:0004713	protein tyrosine kinase a ctivity	TAS	molecular_function
GO:0004713	protein tyrosine kinase a ctivity	TAS	molecular_function
GO:0005007	fibroblast growth factor- activated receptor activi ty	IDA	molecular_function
GO:0005007	fibroblast growth factor- activated receptor activi ty	IDA	molecular_function
GO:0005007	fibroblast growth factor- activated receptor activi ty	TAS	molecular_function
GO:0005088	Ras guanyl-nucleotide exc hange 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 pla sma membrane	TAS	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006468	protein phosphorylation	NAS	biological_process
GO:0006468	protein phosphorylation	NAS	biological_process
GO:0007605	sensory perception of sou nd	IEA	biological_process
GO:0008201	heparin binding	IDA	molecular_function
GO:0008284	positive regulation of ce ll proliferation	IMP	biological_process
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0008284	positive regulation of ce ll proliferation	IGI	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	IPI	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	IDA	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	IGI	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	TAS	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	TAS	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	TAS	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	TAS	biological_process
GO:0010518	positive regulation of ph ospholipase activity	TAS	biological_process
GO:0010863	positive regulation of ph ospholipase C activity	IDA	biological_process
GO:0010976	positive regulation of ne uron projection developme nt	IEA	biological_process
GO:0014066	regulation of phosphatidy linositol 3-kinase signal ing	TAS	biological_process
GO:0014068	positive regulation of ph osphatidylinositol 3-kina se signaling	TAS	biological_process
GO:0016021	integral component of mem brane	NAS	cellular_component
GO:0016021	integral component of mem brane	NAS	cellular_component
GO:0016021	integral component of mem brane	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 phospho rylation	IDA	biological_process
GO:0018108	peptidyl-tyrosine phospho rylation	IDA	biological_process
GO:0019827	stem cell population main tenance	IEA	biological_process
GO:0021837	motogenic signaling invol ved in postnatal olfactor y bulb interneuron migrat ion	IEA	biological_process
GO:0021847	ventricular zone neurobla st division	IEA	biological_process
GO:0030326	embryonic limb morphogene sis	IEA	biological_process
GO:0030901	midbrain development	IEA	biological_process
GO:0031175	neuron projection develop ment	IEA	biological_process
GO:0032403	protein complex binding	IEA	molecular_function
GO:0035607	fibroblast growth factor receptor signaling pathwa y involved in orbitofront al cortex development	IEA	biological_process
GO:0036092	phosphatidylinositol-3-ph osphate biosynthetic proc ess	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 develo pment	TAS	biological_process
GO:0043235	receptor complex	IDA	cellular_component
GO:0043406	positive regulation of MA P kinase activity	IDA	biological_process
GO:0043406	positive regulation of MA P kinase activity	IDA	biological_process
GO:0043410	positive regulation of MA PK cascade	IMP	biological_process
GO:0043547	positive regulation of GT Pase activity	IEA	biological_process
GO:0045595	regulation of cell differ entiation	TAS	biological_process
GO:0045666	positive regulation of ne uron differentiation	IMP	biological_process
GO:0045668	negative regulation of os teoblast differentiation	IEA	biological_process
GO:0045787	positive regulation of ce ll cycle	IEA	biological_process
GO:0046777	protein autophosphorylati on	IDA	biological_process
GO:0046854	phosphatidylinositol phos phorylation	IEA	biological_process
GO:0046934	phosphatidylinositol-4,5- bisphosphate 3-kinase act ivity	TAS	molecular_function
GO:0048015	phosphatidylinositol-medi ated signaling	TAS	biological_process
GO:0048015	phosphatidylinositol-medi ated signaling	TAS	biological_process
GO:0048339	paraxial mesoderm develop ment	IEA	biological_process
GO:0048378	regulation of lateral mes odermal cell fate specifi cation	IEA	biological_process
GO:0048469	cell maturation	IEA	biological_process
GO:0048705	skeletal system morphogen esis	TAS	biological_process
GO:0048762	mesenchymal cell differen tiation	IEA	biological_process
GO:0050839	cell adhesion molecule bi nding	IEA	molecular_function
GO:0051930	regulation of sensory per ception of pain	IEA	biological_process
GO:0060045	positive regulation of ca rdiac muscle cell prolife ration	IEA	biological_process
GO:0060117	auditory receptor cell de velopment	IEA	biological_process
GO:0060445	branching involved in sal ivary gland morphogenesis	IEA	biological_process
GO:0060484	lung-associated mesenchym e development	IEA	biological_process
GO:0060665	regulation of branching i nvolved in salivary gland morphogenesis by mesench ymal-epithelial signaling	IEA	biological_process
GO:0090080	positive regulation of MA PKKK cascade by fibroblas t growth factor receptor signaling pathway	IEA	biological_process
GO:2000546	positive regulation of en dothelial cell chemotaxis to fibroblast growth fac tor	IDA	biological_process
GO:2001239	regulation of extrinsic a poptotic signaling pathwa y in absence of ligand	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase 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 developme nt	TAS	biological_process
GO:0001525	angiogenesis	IEA	biological_process
GO:0001657	ureteric bud development	IEA	biological_process
GO:0001701	in utero embryonic develo pment	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 me senchymal cell proliferat ion	IEA	biological_process
GO:0002062	chondrocyte differentiati on	IEA	biological_process
GO:0004672	protein kinase activity	IEA	molecular_function
GO:0004713	protein tyrosine kinase a ctivity	IEA	molecular_function
GO:0004713	protein tyrosine kinase a ctivity	IEA	molecular_function
GO:0004713	protein tyrosine kinase a ctivity	IDA	molecular_function
GO:0004713	protein tyrosine kinase a ctivity	TAS	molecular_function
GO:0004713	protein tyrosine kinase a ctivity	TAS	molecular_function
GO:0004713	protein tyrosine kinase a ctivity	TAS	molecular_function
GO:0004713	protein tyrosine kinase a ctivity	TAS	molecular_function
GO:0004714	transmembrane receptor pr otein tyrosine kinase act ivity	IEA	molecular_function
GO:0005007	fibroblast growth factor- activated receptor activi ty	IEA	molecular_function
GO:0005007	fibroblast growth factor- activated receptor activi ty	IEA	molecular_function
GO:0005007	fibroblast growth factor- activated receptor activi ty	TAS	molecular_function
GO:0005007	fibroblast growth factor- activated receptor activi ty	IDA	molecular_function
GO:0005007	fibroblast growth factor- activated receptor activi ty	IDA	molecular_function
GO:0005007	fibroblast growth factor- activated receptor activi ty	TAS	molecular_function
GO:0005088	Ras guanyl-nucleotide exc hange 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 pla sma membrane	TAS	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, 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 morphogene sis	IEA	biological_process
GO:0007605	sensory perception of sou nd	IEA	biological_process
GO:0008201	heparin binding	IEA	molecular_function
GO:0008201	heparin binding	IDA	molecular_function
GO:0008284	positive regulation of ce ll proliferation	IEA	biological_process
GO:0008284	positive regulation of ce ll proliferation	IEA	biological_process
GO:0008284	positive regulation of ce ll proliferation	IMP	biological_process
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0008284	positive regulation of ce ll proliferation	IGI	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	IEA	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	IEA	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	TAS	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	IPI	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	IDA	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	IGI	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	TAS	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	TAS	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	TAS	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	TAS	biological_process
GO:0010468	regulation of gene expres sion	IEA	biological_process
GO:0010518	positive regulation of ph ospholipase activity	TAS	biological_process
GO:0010629	negative regulation of ge ne expression	IEA	biological_process
GO:0010863	positive regulation of ph ospholipase C activity	IDA	biological_process
GO:0010976	positive regulation of ne uron projection developme nt	IEA	biological_process
GO:0014066	regulation of phosphatidy linositol 3-kinase signal ing	TAS	biological_process
GO:0014068	positive regulation of ph osphatidylinositol 3-kina se signaling	TAS	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	NAS	cellular_component
GO:0016021	integral component of mem brane	NAS	cellular_component
GO:0016021	integral component of mem brane	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 phospho rylation	IDA	biological_process
GO:0018108	peptidyl-tyrosine phospho rylation	IDA	biological_process
GO:0019827	stem cell population main tenance	IEA	biological_process
GO:0021769	orbitofrontal cortex deve lopment	IEA	biological_process
GO:0021837	motogenic signaling invol ved in postnatal olfactor y bulb interneuron migrat ion	IEA	biological_process
GO:0021847	ventricular zone neurobla st division	IEA	biological_process
GO:0021954	central nervous system ne uron development	IEA	biological_process
GO:0030324	lung development	IEA	biological_process
GO:0030326	embryonic limb morphogene sis	IEA	biological_process
GO:0030901	midbrain development	IEA	biological_process
GO:0031175	neuron projection develop ment	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 pathwa y involved in orbitofront al cortex development	IEA	biological_process
GO:0036092	phosphatidylinositol-3-ph osphate biosynthetic proc ess	IEA	biological_process
GO:0042127	regulation of cell prolif eration	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 develo pment	TAS	biological_process
GO:0043235	receptor complex	IDA	cellular_component
GO:0043406	positive regulation of MA P kinase activity	IDA	biological_process
GO:0043406	positive regulation of MA P kinase activity	IDA	biological_process
GO:0043410	positive regulation of MA PK cascade	IMP	biological_process
GO:0043547	positive regulation of GT Pase activity	IEA	biological_process
GO:0045595	regulation of cell differ entiation	TAS	biological_process
GO:0045666	positive regulation of ne uron differentiation	IMP	biological_process
GO:0045668	negative regulation of os teoblast differentiation	IEA	biological_process
GO:0045787	positive regulation of ce ll cycle	IEA	biological_process
GO:0046777	protein autophosphorylati on	IDA	biological_process
GO:0046854	phosphatidylinositol phos phorylation	IEA	biological_process
GO:0046934	phosphatidylinositol-4,5- bisphosphate 3-kinase act ivity	TAS	molecular_function
GO:0048015	phosphatidylinositol-medi ated signaling	TAS	biological_process
GO:0048015	phosphatidylinositol-medi ated signaling	TAS	biological_process
GO:0048339	paraxial mesoderm develop ment	IEA	biological_process
GO:0048378	regulation of lateral mes odermal cell fate specifi cation	IEA	biological_process
GO:0048469	cell maturation	IEA	biological_process
GO:0048514	blood vessel morphogenesi s	IEA	biological_process
GO:0048699	generation of neurons	IEA	biological_process
GO:0048705	skeletal system morphogen esis	TAS	biological_process
GO:0048762	mesenchymal cell differen tiation	IEA	biological_process
GO:0050839	cell adhesion molecule bi nding	IEA	molecular_function
GO:0051930	regulation of sensory per ception of pain	IEA	biological_process
GO:0060045	positive regulation of ca rdiac muscle cell prolife ration	IEA	biological_process
GO:0060117	auditory receptor cell de velopment	IEA	biological_process
GO:0060445	branching involved in sal ivary gland morphogenesis	IEA	biological_process
GO:0060484	lung-associated mesenchym e development	IEA	biological_process
GO:0060665	regulation of branching i nvolved in salivary gland morphogenesis by mesench ymal-epithelial signaling	IEA	biological_process
GO:0072091	regulation of stem cell p roliferation	IEA	biological_process
GO:0090080	positive regulation of MA PKKK cascade by fibroblas t growth factor receptor signaling pathway	IEA	biological_process
GO:2000546	positive regulation of en dothelial cell chemotaxis to fibroblast growth fac tor	IDA	biological_process
GO:2001239	regulation of extrinsic a poptotic signaling pathwa y 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 developme nt	TAS	biological_process
GO:0001764	neuron migration	TAS	biological_process
GO:0004713	protein tyrosine kinase a ctivity	IDA	molecular_function
GO:0004713	protein tyrosine kinase a ctivity	TAS	molecular_function
GO:0004713	protein tyrosine kinase a ctivity	TAS	molecular_function
GO:0004713	protein tyrosine kinase a ctivity	TAS	molecular_function
GO:0004713	protein tyrosine kinase a ctivity	TAS	molecular_function
GO:0005007	fibroblast growth factor- activated receptor activi ty	TAS	molecular_function
GO:0005007	fibroblast growth factor- activated receptor activi ty	IDA	molecular_function
GO:0005007	fibroblast growth factor- activated receptor activi ty	IDA	molecular_function
GO:0005007	fibroblast growth factor- activated receptor activi ty	TAS	molecular_function
GO:0005088	Ras guanyl-nucleotide exc hange 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 pla sma 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 ce ll proliferation	IMP	biological_process
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0008284	positive regulation of ce ll proliferation	IGI	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	TAS	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	IPI	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	IDA	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	IGI	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	TAS	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	TAS	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	TAS	biological_process
GO:0008543	fibroblast growth factor receptor signaling pathwa y	TAS	biological_process
GO:0010518	positive regulation of ph ospholipase activity	TAS	biological_process
GO:0010863	positive regulation of ph ospholipase C activity	IDA	biological_process
GO:0014066	regulation of phosphatidy linositol 3-kinase signal ing	TAS	biological_process
GO:0014068	positive regulation of ph osphatidylinositol 3-kina se signaling	TAS	biological_process
GO:0016021	integral component of mem brane	NAS	cellular_component
GO:0016021	integral component of mem brane	NAS	cellular_component
GO:0016021	integral component of mem brane	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 phospho rylation	IDA	biological_process
GO:0018108	peptidyl-tyrosine phospho rylation	IDA	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0043009	chordate embryonic develo pment	TAS	biological_process
GO:0043235	receptor complex	IDA	cellular_component
GO:0043406	positive regulation of MA P kinase activity	IDA	biological_process
GO:0043406	positive regulation of MA P kinase activity	IDA	biological_process
GO:0043410	positive regulation of MA PK cascade	IMP	biological_process
GO:0045595	regulation of cell differ entiation	TAS	biological_process
GO:0045666	positive regulation of ne uron differentiation	IMP	biological_process
GO:0046777	protein autophosphorylati on	IDA	biological_process
GO:0046934	phosphatidylinositol-4,5- bisphosphate 3-kinase act ivity	TAS	molecular_function
GO:0048015	phosphatidylinositol-medi ated signaling	TAS	biological_process
GO:0048015	phosphatidylinositol-medi ated signaling	TAS	biological_process
GO:0048705	skeletal system morphogen esis	TAS	biological_process
GO:2000546	positive regulation of en dothelial cell chemotaxis to fibroblast growth fac tor	IDA	biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa04151  PI3K-Akt signaling pathway
hsa05205  Proteoglycans in cancer
hsa04010  MAPK signaling pathway
hsa04015  Rap1 signaling pathway
hsa04014  Ras signaling pathway
hsa05224  Breast cancer
hsa04810  Regulation of actin cytoskeleton
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa05215  Prostate cancer
hsa05218  Melanoma
hsa05230  Central carbon metabolism in cancer
hsa04520  Adherens junction

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 19141999
Cancer	PMID: 18415014
Cleft lip	PMID: 18978678
Congenital hypogonadotropic hypogonadism	PMID: 16882753
Craniosynostosis	KEGG: H00458
Encephalocraniocutaneous lipomatosis	OMIM: 136350
Endometrial cancer	PMID: 16681770
Endometriosis	PMID: 25500535
Hartsfield syndrome	OMIM: 136350
Hypogonadotropic hypogonadism	PMID: 25619354, KEGG: H00255, OMIM: 136350
Isolated orofacial clefts	KEGG: H00516
Jackson-Weiss syndrome	OMIM: 136350
Kallmann syndrome	PMID: 26031747
Male infertility	PMID: 16757108
Osteoglophonic dysplasia	OMIM: 136350, KEGG: H00443
Pfeiffer syndrome	KEGG: H01756
Endometriosis-related dysmenorrhea	INFBASE25500535
Endometriosis	INFBASE25500535
Tooth agenesis	PMID: 17318851
Trigonocephaly	OMIM: 136350
Unilateral or bilateral cryptorchidism	PMID: 20389169

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
25500535	Endometrio sis			74 (48 patients with endometri osis, 26 health y control subje cts)			Show abstract