| Tag | Content |
|---|---|
| Uniprot ID | P21803; O55141; Q00389; Q61342; |
| Entrez ID | 14183 |
| Genbank protein ID | AAA37286.1; CAA76099.1; AAA37285.1; CAA76098.1; CAA39083.1; AAA39377.1; |
| Genbank nucleotide ID | NM_010207.2; NM_201601.2; |
| Ensembl protein ID | |
| Ensembl nucleotide ID | |
| Gene name | Fibroblast growth factor receptor 2 |
| Gene symbol | Fgfr2 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | E13.5, E14.0, E14.5, E16.0, E16.5 |
| Data sources | Manually collected |
| Reference | 26250517; 20133659; 15316116; 20175913; 15975938; 15199404; 19235875; |
| Functional description | Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is required for normal skeleton development. Promotes cell proliferation in keratinocytes and immature osteoblasts, but promotes apoptosis in differentiated osteoblasts. Phosphorylates PLCG1, FRS2 and PAK4. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. FGFR2 signaling is down-regulated by ubiquitination, internalization and degradation. Mutations that lead to constitutive kinase activation or impair normal FGFR2 maturation, internalization and degradation lead to aberrant signaling. Over-expressed FGFR2 promotes activation of STAT1. |
| Sequence | MVSWGRFICL VLVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEAY VVAPGESLEL 60 QCMLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAA RTVDSETWIF 120 MVNVTDAISS GDDEDDTDSS EDVVSENRSN QRAPYWTNTE KMEKRLHACP AANTVKFRCP 180 AGGNPTSTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CLVENEYGSI 240 NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK 300 NGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY TCLAGNSIGI SFHSAWLTVL 360 PAPVREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVIFCRM KTTTKKPDFS SQPAVHKLTK 420 RIPLRRQVTV SAESSSSMNS NTPLVRITTR LSSTADTPML AGVSEYELPE DPKWEFPRDK 480 LTLGKPLGEG CFGQVVMAEA VGIDKDKPKE AVTVAVKMLK DDATEKDLSD LVSEMEMMKM 540 IGKHKNIINL LGACTQDGPL YVIVEYASKG NLREYLRARR PPGMEYSYDI NRVPEEQMTF 600 KDLVSCTYQL ARGMEYLASQ KCIHRDLAAR NVLVTENNVM KIADFGLARD INNIDYYKKT 660 TNGRLPVKWM APEALFDRVY THQSDVWSFG VLMWEIFTLG GSPYPGIPVE ELFKLLKEGH 720 RMDKPTNCTN ELYMMMRDCW HAVPSQRPTF KQLVEDLDRI LTLTTNEEYL DLTQPLEQYS 780 PSYPDTSSSC SSGDDSVFSP DPMPYEPCLP QYPHINGSVK T 821 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | FGFR2 | 102170938 | A0A452F370 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | FGFR2 | 2263 | P21802 | Homo sapiens | Publication | More>> | ||
| 1:1 ortholog | Fgfr2 | 14183 | P21803 | CPO | E13.5, E14.0, E14.5, E16.0, E16.5 | Mus musculus | Publication | More>> |
| 1:1 ortholog | FGFR2 | A0A2I3S3S0 | Pan troglodytes | Prediction | More>> | |||
| 1:1 ortholog | A0A480U9V2 | Sus scrofa | Prediction | More>> | ||||
| 1:1 ortholog | FGFR2 | 100009417 | G1SSB0 | Oryctolagus cuniculus | Prediction | More>> | ||
| 1:1 ortholog | Fgfr2 | 25022 | F1LSG7 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | fgfr2 | A4JYI8 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0004714 | transmembrane receptor protein tyrosine kinase activity | IBA |
| GO:0005007 | fibroblast growth factor-activated receptor activity | ISO |
| GO:0005007 | fibroblast growth factor-activated receptor activity | IBA |
| GO:0005515 | protein binding | IPI |
| GO:0005524 | ATP binding | IEA |
| GO:0008201 | heparin binding | IEA |
| GO:0017134 | fibroblast growth factor binding | ISO |
| GO:0017134 | fibroblast growth factor binding | IBA |
| GO:0017134 | fibroblast growth factor binding | IDA |
| GO:0042802 | identical protein binding | ISO |
| GO:0042803 | protein homodimerization activity | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IMP |
| GO:0001525 | angiogenesis | IGI |
| GO:0001657 | ureteric bud development | IGI |
| GO:0001701 | in utero embryonic development | IGI |
| GO:0001701 | in utero embryonic development | IMP |
| GO:0001837 | epithelial to mesenchymal transition | ISO |
| GO:0002053 | positive regulation of mesenchymal cell proliferation | IGI |
| GO:0003148 | outflow tract septum morphogenesis | IMP |
| GO:0003149 | membranous septum morphogenesis | IMP |
| GO:0006915 | apoptotic process | IEA |
| GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway | IBA |
| GO:0007267 | cell-cell signaling | IMP |
| GO:0007275 | multicellular organism development | IBA |
| GO:0007409 | axonogenesis | IMP |
| GO:0007528 | neuromuscular junction development | IMP |
| GO:0008284 | positive regulation of cell population proliferation | ISO |
| GO:0008284 | positive regulation of cell population proliferation | IMP |
| GO:0008284 | positive regulation of cell population proliferation | IGI |
| GO:0008285 | negative regulation of cell population proliferation | IGI |
| GO:0008543 | fibroblast growth factor receptor signaling pathway | ISO |
| GO:0008543 | fibroblast growth factor receptor signaling pathway | IGI |
| GO:0008543 | fibroblast growth factor receptor signaling pathway | IMP |
| GO:0008589 | regulation of smoothened signaling pathway | IMP |
| GO:0009791 | post-embryonic development | IMP |
| GO:0009880 | embryonic pattern specification | IMP |
| GO:0009887 | animal organ morphogenesis | IMP |
| GO:0010518 | positive regulation of phospholipase activity | ISO |
| GO:0010628 | positive regulation of gene expression | IMP |
| GO:0016331 | morphogenesis of embryonic epithelium | IMP |
| GO:0018108 | peptidyl-tyrosine phosphorylation | ISO |
| GO:0021769 | orbitofrontal cortex development | IMP |
| GO:0021847 | ventricular zone neuroblast division | IMP |
| GO:0021860 | pyramidal neuron development | IMP |
| GO:0022612 | gland morphogenesis | IMP |
| GO:0030177 | positive regulation of Wnt signaling pathway | IMP |
| GO:0030282 | bone mineralization | IMP |
| GO:0030324 | lung development | IMP |
| GO:0030324 | lung development | IGI |
| GO:0030855 | epithelial cell differentiation | IMP |
| GO:0030901 | midbrain development | IGI |
| GO:0030916 | otic vesicle formation | TAS |
| GO:0030916 | otic vesicle formation | IMP |
| GO:0031069 | hair follicle morphogenesis | IMP |
| GO:0032808 | lacrimal gland development | IMP |
| GO:0033674 | positive regulation of kinase activity | IBA |
| GO:0035265 | organ growth | IMP |
| GO:0035602 | fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow cell | IMP |
| GO:0035603 | fibroblast growth factor receptor signaling pathway involved in hemopoiesis | IMP |
| GO:0035604 | fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow | IMP |
| GO:0035607 | fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development | IMP |
| GO:0042127 | regulation of cell population proliferation | IMP |
| GO:0042472 | inner ear morphogenesis | IMP |
| GO:0042476 | odontogenesis | IMP |
| GO:0043410 | positive regulation of MAPK cascade | ISO |
| GO:0045165 | cell fate commitment | IDA |
| GO:0045165 | cell fate commitment | IMP |
| GO:0045787 | positive regulation of cell cycle | IMP |
| GO:0045839 | negative regulation of mitotic nuclear division | IGI |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IMP |
| GO:0046777 | protein autophosphorylation | ISO |
| GO:0048286 | lung alveolus development | IGI |
| GO:0048286 | lung alveolus development | IMP |
| GO:0048489 | synaptic vesicle transport | IMP |
| GO:0048557 | embryonic digestive tract morphogenesis | IMP |
| GO:0048562 | embryonic organ morphogenesis | IMP |
| GO:0048565 | digestive tract development | IMP |
| GO:0048568 | embryonic organ development | IMP |
| GO:0048608 | reproductive structure development | IMP |
| GO:0048661 | positive regulation of smooth muscle cell proliferation | ISO |
| GO:0048701 | embryonic cranial skeleton morphogenesis | ISO |
| GO:0048730 | epidermis morphogenesis | IMP |
| GO:0048755 | branching morphogenesis of a nerve | IMP |
| GO:0048762 | mesenchymal cell differentiation | IGI |
| GO:0050678 | regulation of epithelial cell proliferation | IMP |
| GO:0050679 | positive regulation of epithelial cell proliferation | IMP |
| GO:0050679 | positive regulation of epithelial cell proliferation | IGI |
| GO:0050680 | negative regulation of epithelial cell proliferation | ISO |
| GO:0051150 | regulation of smooth muscle cell differentiation | IMP |
| GO:0051781 | positive regulation of cell division | IMP |
| GO:0055010 | ventricular cardiac muscle tissue morphogenesis | IMP |
| GO:0060045 | positive regulation of cardiac muscle cell proliferation | IGI |
| GO:0060174 | limb bud formation | IMP |
| GO:0060348 | bone development | IMP |
| GO:0060349 | bone morphogenesis | IMP |
| GO:0060365 | coronal suture morphogenesis | IMP |
| GO:0060441 | epithelial tube branching involved in lung morphogenesis | IMP |
| GO:0060442 | branching involved in prostate gland morphogenesis | IMP |
| GO:0060445 | branching involved in salivary gland morphogenesis | IMP |
| GO:0060449 | bud elongation involved in lung branching | IMP |
| GO:0060463 | lung lobe morphogenesis | IMP |
| GO:0060484 | lung-associated mesenchyme development | IMP |
| GO:0060484 | lung-associated mesenchyme development | IGI |
| GO:0060501 | positive regulation of epithelial cell proliferation involved in lung morphogenesis | IMP |
| GO:0060512 | prostate gland morphogenesis | IMP |
| GO:0060523 | prostate epithelial cord elongation | IMP |
| GO:0060527 | prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis | IMP |
| GO:0060529 | squamous basal epithelial stem cell differentiation involved in prostate gland acinus development | IMP |
| GO:0060595 | fibroblast growth factor receptor signaling pathway involved in mammary gland specification | IMP |
| GO:0060601 | lateral sprouting from an epithelium | IMP |
| GO:0060615 | mammary gland bud formation | IMP |
| GO:0060664 | epithelial cell proliferation involved in salivary gland morphogenesis | IGI |
| GO:0060664 | epithelial cell proliferation involved in salivary gland morphogenesis | IMP |
| GO:0060667 | branch elongation involved in salivary gland morphogenesis | IGI |
| GO:0060667 | branch elongation involved in salivary gland morphogenesis | IMP |
| GO:0060670 | branching involved in labyrinthine layer morphogenesis | IMP |
| GO:0060688 | regulation of morphogenesis of a branching structure | IMP |
| GO:0060915 | mesenchymal cell differentiation involved in lung development | IGI |
| GO:0060916 | mesenchymal cell proliferation involved in lung development | IMP |
| GO:0060979 | vasculogenesis involved in coronary vascular morphogenesis | TAS |
| GO:0061031 | endodermal digestive tract morphogenesis | IMP |
| GO:0070307 | lens fiber cell development | IGI |
| GO:0070307 | lens fiber cell development | IMP |
| GO:0070372 | regulation of ERK1 and ERK2 cascade | IMP |
| GO:0070374 | positive regulation of ERK1 and ERK2 cascade | IGI |
| GO:0090263 | positive regulation of canonical Wnt signaling pathway | IMP |
| GO:0090263 | positive regulation of canonical Wnt signaling pathway | IGI |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005576 | extracellular region | TAS |
| GO:0005623 | cell | IEA |
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IDA |
| GO:0005737 | cytoplasm | ISO |
| GO:0005794 | Golgi apparatus | IEA |
| GO:0005887 | integral component of plasma membrane | ISO |
| GO:0005887 | integral component of plasma membrane | IBA |
| GO:0005938 | cell cortex | ISO |
| GO:0009986 | cell surface | ISO |
| GO:0031410 | cytoplasmic vesicle | IEA |
| GO:0043235 | receptor complex | IBA |
| GO:0060076 | excitatory synapse | IMP |
| GO:0062023 | collagen-containing extracellular matrix | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-109704 | PI3K Cascade | IEA |
| R-MMU-112399 | IRS-mediated signalling | IEA |
| R-MMU-1257604 | PIP3 activates AKT signaling | IEA |
| R-MMU-1280215 | Cytokine Signaling in Immune system | IEA |
| R-MMU-162582 | Signal Transduction | IEA |
| R-MMU-168256 | Immune System | IEA |
| R-MMU-190236 | Signaling by FGFR | IEA |
| R-MMU-190241 | FGFR2 ligand binding and activation | IEA |
| R-MMU-190375 | FGFR2c ligand binding and activation | IEA |
| R-MMU-190377 | FGFR2b ligand binding and activation | IEA |
| R-MMU-199418 | Negative regulation of the PI3K/AKT network | IEA |
| R-MMU-2404192 | Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) | IEA |
| R-MMU-2428924 | IGF1R signaling cascade | IEA |
| R-MMU-2428928 | IRS-related events triggered by IGF1R | IEA |
| R-MMU-5654221 | Phospholipase C-mediated cascade; FGFR2 | IEA |
| R-MMU-5654695 | PI-3K cascade:FGFR2 | IEA |
| R-MMU-5654696 | Downstream signaling of activated FGFR2 | IEA |
| R-MMU-5654699 | SHC-mediated cascade:FGFR2 | IEA |
| R-MMU-5654700 | FRS-mediated FGFR2 signaling | IEA |
| R-MMU-5654727 | Negative regulation of FGFR2 signaling | IEA |
| R-MMU-5654738 | Signaling by FGFR2 | IEA |
| R-MMU-5673001 | RAF/MAP kinase cascade | IEA |
| R-MMU-5683057 | MAPK family signaling cascades | IEA |
| R-MMU-5684996 | MAPK1/MAPK3 signaling | IEA |
| R-MMU-6811558 | PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling | IEA |
| R-MMU-74751 | Insulin receptor signalling cascade | IEA |
| R-MMU-74752 | Signaling by Insulin receptor | IEA |
| R-MMU-9006925 | Intracellular signaling by second messengers | IEA |
| R-MMU-9006934 | Signaling by Receptor Tyrosine Kinases | IEA |
| R-MMU-9607240 | FLT3 Signaling | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0002 | 3D-structure |
| KW-0025 | Alternative splicing |
| KW-0053 | Apoptosis |
| KW-0067 | ATP-binding |
| KW-1003 | Cell membrane |
| KW-0968 | Cytoplasmic vesicle |
| KW-1015 | Disulfide bond |
| KW-0325 | Glycoprotein |
| KW-0333 | Golgi apparatus |
| KW-0358 | Heparin-binding |
| KW-0393 | Immunoglobulin domain |
| KW-0418 | Kinase |
| KW-0472 | Membrane |
| KW-0547 | Nucleotide-binding |
| KW-0597 | Phosphoprotein |
| KW-0656 | Proto-oncogene |
| KW-0675 | Receptor |
| KW-1185 | Reference proteome |
| KW-0677 | Repeat |
| KW-0732 | Signal |
| KW-0808 | Transferase |
| KW-0812 | Transmembrane |
| KW-1133 | Transmembrane helix |
| KW-0829 | Tyrosine-protein kinase |
| KW-0832 | Ubl conjugation |
| InterPro ID | InterPro Term |
|---|---|
| IPR016248 | FGF_rcpt_fam |
| IPR041159 | FGFR_TM |
| IPR007110 | Ig-like_dom |
| IPR036179 | Ig-like_dom_sf |
| IPR013783 | Ig-like_fold |
| IPR013098 | Ig_I-set |
| IPR003599 | Ig_sub |
| IPR003598 | Ig_sub2 |
| IPR011009 | Kinase-like_dom_sf |
| IPR000719 | Prot_kinase_dom |
| IPR017441 | Protein_kinase_ATP_BS |
| IPR001245 | Ser-Thr/Tyr_kinase_cat_dom |
| IPR008266 | Tyr_kinase_AS |
| IPR020635 | Tyr_kinase_cat_dom |