FGF4(成纤维细胞生长因子4)属于FGF基因家族,该家族包含22个成员,主要编码分泌型信号蛋白,参与细胞增殖、分化、迁移和存活等过程。FGF4通过结合FGFR(成纤维细胞生长因子受体)激活下游信号通路(如MAPK和PI3K-AKT),在胚胎发育、肢体形成和器官发生中起关键作用。其表达产物是一种肝素结合蛋白,需与硫酸乙酰肝素蛋白多糖结合才能稳定并激活受体。FGF4突变可能导致骨骼发育异常,如先天性短肢畸形,并与某些癌症(如胃癌、乳腺癌)的发生和进展相关,因其促增殖特性可能驱动肿瘤生长。过表达FGF4会增强细胞增殖,可能诱发肿瘤或促进血管生成,而表达降低则可能导致发育缺陷,如小鼠模型中出现的肢体和神经管闭合异常。FGF家族成员的共性是依赖FGFR介导的信号传导,多数参与组织修复和胚胎模式形成。此外,FGF4在诱导多能干细胞(iPSC)重编程中具有辅助作用,但持续高表达可能增加基因组不稳定性。该基因的调控异常还与遗传性疾病(如软骨发育不全)和代谢紊乱相关,凸显其在生理和病理过程中的广泛影响。
The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified by its oncogenic transforming activity. This gene and FGF3, another oncogenic growth factor, are located closely on chromosome 11. Co-amplification of both genes was found in various kinds of human tumors. Studies on the mouse homolog suggested a function in bone morphogenesis and limb development through the sonic hedgehog (SHH) signaling pathway. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质是成纤维细胞生长因子(FGF)家族的一个成员。 FGF家族成员具有广泛的促有丝分裂和细胞存活的活动,并参与各种生物学过程包括胚胎发育,细胞生长,形态发生,组织修复,肿瘤生长和侵袭。该基因被鉴定其致癌转化活性。此基因和FGF3,另一致癌生长因子,是紧密位于这两个基因的11号染色体共扩增在各种人类肿瘤被发现。研究小鼠同源物,通过声波刺猬(SHH)信号通路在建议骨形态发生和肢体发育的功能。 [由RefSeq的,2008年7月提供]
FGF4基因(以及对应的蛋白质)的细胞分布位置:
FGF4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] |
4810 Regulation of actin cytoskeleton [PATH:hsa04810] |
5200 Pathways in cancer [PATH:hsa05200] |
5218 Melanoma [PATH:hsa05218] |
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 |
FGFR1 ligand binding and activation |
FGFR1 mutant receptor activation |
FGFR1c ligand binding and activation |
FGFR2 ligand binding and activation |
FGFR2 mutant receptor activation |
FGFR2c ligand binding and activation |
FGFR3 ligand binding and activation |
FGFR3 mutant receptor activation |
FGFR3c ligand binding and activation |
FGFR4 ligand binding and activation |
FRS-mediated FGFR1 signaling |
FRS-mediated FGFR2 signaling |
FRS-mediated FGFR3 signaling |
FRS2-mediated FGFR4 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 FGFR1 signaling |
Negative regulation of FGFR2 signaling |
Negative regulation of FGFR3 signaling |
Negative regulation of FGFR4 signaling |
NGF signalling via TRKA from the plasma membrane |
Phospholipase C-mediated cascade; FGFR2 |
Phospholipase C-mediated cascade; FGFR3 |
Phospholipase C-mediated cascade; FGFR4 |
Phospholipase C-mediated cascade: FGFR1 |
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:FGFR1 |
SHC-mediated cascade:FGFR2 |
SHC-mediated cascade:FGFR3 |
SHC-mediated cascade:FGFR4 |
Signal Transduction |
Signaling by activated point mutants of FGFR1 |
Signaling by activated point mutants of FGFR3 |
Signaling by EGFR |
Signaling by ERBB2 |
Signaling by ERBB4 |
Signaling by FGFR |
Signaling by FGFR in disease |
Signaling by FGFR1 |
Signaling by FGFR1 in disease |
Signaling by FGFR1 mutants |
Signaling by FGFR2 |
Signaling by FGFR2 in disease |
Signaling by FGFR2 mutants |
Signaling by FGFR3 |
Signaling by FGFR3 in disease |
Signaling by FGFR3 mutants |
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 |
Mammary Neoplasms | 0.122995792 | 3 | 0 | BeFree_CTD_human_LHGDN |
Liver carcinoma | 0.120814326 | 4 | 0 | BeFree_CTD_human |
Breast Carcinoma | 0.002985861 | 11 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.00272435 | 1 | 0 | LHGDN |
Neoplasm Metastasis | 0.002442977 | 9 | 0 | BeFree |
Chronic Lymphocytic Leukemia | 0.002367032 | 1 | 0 | GAD |
Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified | 0.002367032 | 1 | 0 | GAD |
Premature Obstetric Labor | 0.002367032 | 1 | 0 | GAD |
Diabetes Mellitus, Insulin-Dependent | 0.002367032 | 1 | 1 | GAD |
Chorioamnionitis | 0.002367032 | 1 | 0 | GAD |
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