FGFR2(成纤维细胞生长因子受体2)属于FGFR基因家族,该家族包括FGFR1、FGFR2、FGFR3和FGFR4,这些基因编码的蛋白质都是跨膜酪氨酸激酶受体,主要通过与成纤维细胞生长因子(FGF)结合来调控细胞增殖、分化、迁移和存活等生物学过程。FGFR2在胚胎发育、骨骼形成、伤口愈合和组织修复中发挥关键作用,尤其在颅面发育和肢体形成过程中至关重要。FGFR2通过激活下游信号通路如RAS-MAPK、PI3K-AKT和PLCγ来传递信号。FGFR2的突变会显著影响其功能,例如某些错义突变可能导致受体持续激活,引发颅缝早闭综合征(如Apert综合征、Crouzon综合征和Pfeiffer综合征),这些疾病表现为颅骨异常融合、面部畸形和四肢发育异常。相反,功能丧失性突变可能导致骨骼发育不良或其他发育缺陷。FGFR2的过表达与多种癌症相关,包括乳腺癌、胃癌和子宫内膜癌,因为它能促进细胞增殖和存活;而表达降低则可能影响组织修复和再生能力。FGFR家族成员的共性是它们都含有细胞外FGF结合域、跨膜区和细胞内酪氨酸激酶域,通过二聚化激活下游信号通路。FGFR2的异常表达或突变不仅影响自身功能,还可能干扰其他FGFR家族成员或相关信号通路(如FGF配体或其他受体酪氨酸激酶)的平衡,从而对机体产生广泛影响。
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FGFR2基因(以及对应的蛋白质)的细胞分布位置:
FGFR2基因的本体(GO)信息:
| 名称 |
|---|
| 4014 Ras signaling pathway [PATH:hsa04014] |
| 4015 Rap1 signaling pathway [PATH:hsa04015] |
| 4010 MAPK signaling pathway [PATH:hsa04010] |
| 4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
| 4144 Endocytosis [PATH:hsa04144] |
| 4810 Regulation of actin cytoskeleton [PATH:hsa04810] |
| 4550 Signaling pathways regulating pluripotency of stem cells [PATH:hsa04550] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5230 Central carbon metabolism in cancer [PATH:hsa05230] |
| 5215 Prostate cancer [PATH:hsa05215] |
| 名称 |
|---|
| Activated point mutants of FGFR2 |
| Adaptive Immune System |
| Constitutive Signaling by Aberrant PI3K in Cancer |
| DAP12 interactions |
| DAP12 signaling |
| Disease |
| Diseases of signal transduction |
| Downstream signal transduction |
| Downstream signaling events of B Cell Receptor (BCR) |
| Downstream signaling of activated FGFR1 |
| Downstream signaling of activated FGFR2 |
| Downstream signaling of activated FGFR3 |
| Downstream signaling of activated FGFR4 |
| Fc epsilon receptor (FCERI) signaling |
| FGFR2 ligand binding and activation |
| FGFR2 mutant receptor activation |
| FGFR2b ligand binding and activation |
| FGFR2c ligand binding and activation |
| FRS-mediated FGFR2 signaling |
| GAB1 signalosome |
| IGF1R signaling cascade |
| Immune System |
| Innate Immune System |
| Insulin receptor signalling cascade |
| IRS-mediated signalling |
| IRS-related events |
| IRS-related events triggered by IGF1R |
| Negative regulation of FGFR2 signaling |
| NGF signalling via TRKA from the plasma membrane |
| Phospholipase C-mediated cascade; FGFR2 |
| PI-3K cascade:FGFR1 |
| PI-3K cascade:FGFR2 |
| PI-3K cascade:FGFR3 |
| PI-3K cascade:FGFR4 |
| PI3K Cascade |
| PI3K events in ERBB2 signaling |
| PI3K events in ERBB4 signaling |
| PI3K/AKT activation |
| PI3K/AKT Signaling in Cancer |
| PIP3 activates AKT signaling |
| Role of LAT2/NTAL/LAB on calcium mobilization |
| SHC-mediated cascade:FGFR2 |
| Signal Transduction |
| Signaling by EGFR |
| Signaling by ERBB2 |
| Signaling by ERBB4 |
| Signaling by FGFR |
| Signaling by FGFR in disease |
| Signaling by FGFR1 |
| Signaling by FGFR2 |
| Signaling by FGFR2 amplification mutants |
| Signaling by FGFR2 in disease |
| Signaling by FGFR2 mutants |
| Signaling by FGFR3 |
| Signaling by FGFR4 |
| Signaling by FGFR4 in disease |
| Signaling by FGFR4 mutants |
| Signaling by Insulin receptor |
| Signaling by PDGF |
| Signaling by SCF-KIT |
| Signaling by the B Cell Receptor (BCR) |
| Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) |
| Signalling by NGF |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Cutis Gyrata Syndrome of Beare And Stevenson | 0.561900093 | 8 | 2 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
| JACKSON-WEISS SYNDROME | 0.481085767 | 6 | 3 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
| SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION | 0.48 | 1 | 1 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
| Apert syndrome | 0.454657861 | 56 | 5 | BeFree_CLINVAR_MGD_ORPHANET_UNIPROT |
| Antley-Bixler Syndrome, Autosomal Dominant | 0.361900093 | 8 | 2 | BeFree_CLINVAR_CTD_human_UNIPROT |
| BENT BONE DYSPLASIA SYNDROME | 0.360271442 | 2 | 2 | BeFree_CLINVAR_ORPHANET_UNIPROT |
| Lacrimoauriculodentodigital syndrome | 0.36 | 1 | 0 | CTD_human_ORPHANET_UNIPROT |
| Craniofacial dysostosis type 1 | 0.332486326 | 59 | 5 | BeFree_MGD_ORPHANET_UNIPROT |
| Pfeiffer Syndrome | 0.331867498 | 40 | 8 | BeFree_CLINVAR_GAD_MGD_UNIPROT |
| Craniofacial Dysostosis | 0.255482118 | 48 | 15 | BeFree_CLINVAR_CTD_human_LHGDN |
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