| Tag | Content |
|---|---|
| Uniprot ID | P21802; B4DFC2; E7EVR6; E9PCR0; P18443; Q01742; Q12922; Q14300; Q14301; Q14302; Q14303; Q14304; Q14305; Q14672; Q14718; Q14719; Q1KHY5; Q86YI4; Q8IXC7; Q96KL9; Q96KM0; Q96KM1; Q96KM2; Q9NZU2; Q9NZU3; Q9UD01; Q9UD02; Q9UIH3; Q9UIH4; Q9UIH5; Q9UIH6; Q9UIH7; Q9UIH8; Q9UM87; Q9UMC6; Q9UNS7; Q9UQH7; Q9UQH8; Q9UQH9; Q9UQI0; |
| Entrez ID | 2263 |
| Genbank protein ID | AAC41937.1; BAC45037.1; AAK94206.1; AAH39243.2; AAC41936.1; AAD31565.1; CAA37014.1; AAK94208.1; BAA89301.1; AAD14392.1; AAC41933.1; AAA52449.1; AAA68514.1; AAM74056.1; AAA59471.1; AAC41934.1; BAA89297.1; AAD31561.1; CAA76643.1; AAA59472.1; AAK94209.1; AAD31562.1; BAA89300.1; AAA36152.1; AAA36147.1; ABE96832.1; CAA39654.1; AAA61188.1; CAA96492.1; BAA89298.1; BAA89299.1; AAK94205.1; AAD31567.1; AAF43273.1; BAA89296.1; AAC41938.1; AAD31560.1; AAF43274.1; AAC41935.1; AAK94207.1; BAG57383.1; AAA59470.1; |
| Genbank nucleotide ID | NM_001320658.1; NM_023029.2; NM_001144917.1; NM_001144914.1; NM_001144916.1; NM_001144918.1; NM_001320654.1; NM_022970.3; NM_001144919.1; NM_001144915.1; NM_000141.4; NM_001144913.1; |
| Ensembl protein ID | ENSP00000358052; ENSP00000358057; ENSP00000351276; ENSP00000263451; ENSP00000348559; ENSP00000353262; ENSP00000350166; ENSP00000352309; ENSP00000358056; ENSP00000410294; |
| Ensembl nucleotide ID | ENSG00000066468 |
| Gene name | Fibroblast growth factor receptor 2 |
| Gene symbol | FGFR2 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 25704602 |
| 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 VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV 60 RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF 120 MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP 180 AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI 240 NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK 300 YGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY TCLAGNSIGI SFHSAWLTVL 360 PAPGREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVILCRM KNTTKKPDFS 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 RMDKPANCTN ELYMMMRDCW HAVPSQRPTF KQLVEDLDRI LTLTTNEEYL DLSQPLEQYS 780 PSYPDTRSSC 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.