PTPN11基因编码的蛋白称为SHP-2(Src homology region 2-containing protein tyrosine phosphatase-2),属于蛋白酪氨酸磷酸酶(PTP)家族。该基因在细胞信号传导中起关键作用,主要参与调控RAS/MAPK信号通路,影响细胞增殖、分化、迁移和存活。SHP-2由两个SH2结构域和一个催化结构域组成,通常通过与生长因子受体或其他信号分子结合而被激活,进而去磷酸化靶蛋白以调节信号传递。PTPN11突变常见于努南综合征(Noonan syndrome)和豹皮综合征(LEOPARD syndrome),这些突变通常导致SHP-2持续激活,过度刺激RAS/MAPK通路,引发发育异常、心脏缺陷和智力障碍。此外,PTPN11突变也与某些白血病(如幼年型粒单核细胞白血病)和实体瘤相关。若PTPN11过表达,可能增强细胞增殖和存活信号,促进肿瘤发生;而表达降低则可能影响正常发育和免疫功能。PTPN11属于PTP基因家族,该家族成员均含有保守的催化结构域,负责去磷酸化酪氨酸残基以调控细胞信号。PTP家族在免疫、代谢和癌症中发挥广泛作用,而SHP-2因其独特的SH2结构域和双重调节功能(既可激活也可抑制信号)在家族中尤为特殊。
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
由该基因编码的蛋白质是蛋白质酪氨酸磷酸酶(PTP)家族的一个成员。的PTPs已知是信令调节多种细胞过程,包括细胞生长,分化,有丝分裂周期,和致癌性转化的分子。这PTP包含两个串联的Src同源2结构域,其作为磷酸酪氨酸结合结构域并介导此PTP与其底物的相互作用。此PTP广泛表达在大多数组织和在这对于细胞功能,例如有丝分裂激活,代谢控制,转录调节和细胞迁移的分集重要各种细胞信号事件中起着调节作用。在这个基因的突变是Noonan综合征的原因以及急性髓细胞性白血病。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的,2012年5月提供]
PTPN11基因(以及对应的蛋白质)的细胞分布位置:
PTPN11基因的本体(GO)信息:
名称 |
---|
4014 Ras signaling pathway [PATH:hsa04014] |
4630 Jak-STAT signaling pathway [PATH:hsa04630] |
4650 Natural killer cell mediated cytotoxicity [PATH:hsa04650] |
4670 Leukocyte transendothelial migration [PATH:hsa04670] |
4920 Adipocytokine signaling pathway [PATH:hsa04920] |
4722 Neurotrophin signaling pathway [PATH:hsa04722] |
5205 Proteoglycans in cancer [PATH:hsa05205] |
5220 Chronic myeloid leukemia [PATH:hsa05220] |
5211 Renal cell carcinoma [PATH:hsa05211] |
5120 Epithelial cell signaling in Helicobacter pylori infection [PATH:hsa05120] |
5168 Herpes simplex infection [PATH:hsa05168] |
名称 |
---|
Activated TLR4 signalling |
Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon |
Adaptive Immune System |
ARMS-mediated activation |
Axon guidance |
Cell surface interactions at the vascular wall |
Cell-Cell communication |
Constitutive Signaling by Aberrant PI3K in Cancer |
Costimulation by the CD28 family |
CTLA4 inhibitory signaling |
Cytokine Signaling in Immune system |
DAP12 interactions |
DAP12 signaling |
Developmental Biology |
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 |
ERK activation |
ERK1 activation |
ERK2 activation |
Fc epsilon receptor (FCERI) signaling |
FCERI mediated MAPK activation |
FRS-mediated FGFR1 signaling |
FRS-mediated FGFR2 signaling |
FRS-mediated FGFR3 signaling |
Frs2-mediated activation |
FRS2-mediated FGFR4 signaling |
GAB1 signalosome |
Gastrin-CREB signalling pathway via PKC and MAPK |
GRB2 events in EGFR signaling |
GRB2 events in ERBB2 signaling |
Hemostasis |
IGF1R signaling cascade |
Immune System |
Innate Immune System |
Insulin receptor signalling cascade |
Interferon alpha/beta signaling |
Interferon gamma signaling |
Interferon Signaling |
Interleukin-2 signaling |
Interleukin-3, 5 and GM-CSF signaling |
Interleukin-6 signaling |
IRS-mediated signalling |
IRS-related events |
IRS-related events triggered by IGF1R |
MAP kinase activation in TLR cascade |
MyD88 cascade initiated on plasma membrane |
MyD88 dependent cascade initiated on endosome |
MyD88-independent TLR3/TLR4 cascade |
MyD88:Mal cascade initiated on plasma membrane |
NCAM signaling for neurite out-growth |
Negative regulation of FGFR1 signaling |
Negative regulation of FGFR2 signaling |
Negative regulation of FGFR3 signaling |
Negative regulation of FGFR4 signaling |
Netrin mediated repulsion signals |
Netrin-1 signaling |
NGF signalling via TRKA from the plasma membrane |
Nuclear signaling by ERBB4 |
PD-1 signaling |
PECAM1 interactions |
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 |
Platelet homeostasis |
Platelet sensitization by LDL |
Prolactin receptor signaling |
Prolonged ERK activation events |
RAF/MAP kinase cascade |
Regulation of IFNA signaling |
Regulation of IFNG signaling |
Role of LAT2/NTAL/LAB on calcium mobilization |
SHC-mediated cascade:FGFR2 |
SHC-mediated cascade:FGFR4 |
SHC-mediated signalling |
SHC-related events |
SHC-related events triggered by IGF1R |
SHC1 events in EGFR signaling |
SHC1 events in ERBB2 signaling |
SHC1 events in ERBB4 signaling |
Signal regulatory protein (SIRP) family interactions |
Signaling by EGFR |
Signaling by ERBB2 |
Signaling by ERBB4 |
Signaling by FGFR |
Signaling by FGFR1 |
Signaling by FGFR2 |
Signaling by FGFR3 |
Signaling by FGFR4 |
Signaling by GPCR |
Signaling by Insulin receptor |
Signaling by Interleukins |
Signaling by Leptin |
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) |
Signaling by VEGF |
Signalling by NGF |
Signalling to ERKs |
Signalling to p38 via RIT and RIN |
Signalling to RAS |
SOS-mediated signalling |
Spry regulation of FGF signaling |
Tie2 Signaling |
Toll Like Receptor 10 (TLR10) Cascade |
Toll Like Receptor 2 (TLR2) Cascade |
Toll Like Receptor 3 (TLR3) Cascade |
Toll Like Receptor 4 (TLR4) Cascade |
Toll Like Receptor 5 (TLR5) Cascade |
Toll Like Receptor 7/8 (TLR7/8) Cascade |
Toll Like Receptor 9 (TLR9) Cascade |
Toll Like Receptor TLR1:TLR2 Cascade |
Toll Like Receptor TLR6:TLR2 Cascade |
Toll-Like Receptors Cascades |
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation |
TRAF6 Mediated Induction of proinflammatory cytokines |
TRIF-mediated TLR3/TLR4 signaling |
VEGFA-VEGFR2 Pathway |
VEGFR2 mediated cell proliferation |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Noonan Syndrome | 0.694446819 | 171 | 26 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT |
Juvenile Myelomonocytic Leukemia | 0.582212083 | 44 | 12 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT |
LEOPARD Syndrome | 0.479558076 | 55 | 8 | BeFree_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT |
Metachondromatosis | 0.361085767 | 4 | 9 | BeFree_CLINVAR_CTD_human_ORPHANET |
leukemia | 0.136697369 | 27 | 1 | BeFree_CTD_human_GAD_LHGDN |
Cardio-facio-cutaneous syndrome | 0.122171535 | 9 | 0 | BeFree_CTD_human |
Costello syndrome (disorder) | 0.121357209 | 6 | 0 | BeFree_CTD_human |
Neuroblastoma | 0.121085767 | 5 | 1 | BeFree_CTD_human |
Enchondromatosis | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Astrocytoma | 0.120271442 | 2 | 0 | BeFree_CTD_human |
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