PTPN11 (protein tyrosine phosphatase non-receptor type 11)

symbol:
PTPN11
locus group:
protein-coding gene
location:
12q24.13
gene_family:
SH2 domain containing|Protein tyrosine phosphatases, non-receptor type
alias symbol:
BPTP3|SH-PTP2|SHP-2|PTP2C|SHP2
alias name:
SH2 domain-containing protein tyro…
entrez id:
5781
ensembl gene id:
ENSG00000179295
ucsc gene id:
uc001ttx.4
refseq accession:
NM_001330437
hgnc_id:
HGNC:9644
approved reserved:
1993-03-03
12q24.13
基因染色体位置图

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基因的碱基序列:[NCBI]
Loading Gene Browser...
PTPN11基因的碱基突变:           仅显示部分snp
rs3240       rs574656       rs574680       rs1060450       rs1419587       rs1966342       rs1966343       rs2051801       rs2107205       rs2158292       rs2301756       rs3741983       rs4767860       rs6489843       rs7132778       rs7296254       rs7310987      

PTPN11基因在不同组织中的表达:    [UniProt]

基因在不同组织中的表达图
正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
CTTAAGTTATCTTCCCGCCG
59
TTACCTACTGTCTCCGAGC
58
GCTGTCAGGAACTGAAATACG
59
CTGTACCCAATGTTTCCACC
58
CACTGGTGATGACAAAGGG
58
TATTTCAGTTCCTGACAGCG
58
CGAGAACTAAGCAAATTAGCTG
58
ACCATCATTCTCAGCAAACTC
59
TGTTAGGAACGTCAAAGAAAGC
60
CGTATTCCCTTGTCCAACCT
60
AGAGAAAGGTGTTGACTGC
58
GGTACTGTGCTTCTGTCTG
58
TTAAGTTATCTTCCCGCCG
57
ATTACCTACTGTCTCCGAGC
59
GCTGTCAGGAACTGAAATACG
59
TGTACCCAATGTTTCCACCA
59
AGAGAAAGGTGTTGACTGC
58
GTACTGTGCTTCTGTCTGG
58
GCACTGGTGATGACAAAGG
59
ATTTCAGTTCCTGACAGCG
58
      尚未收录相关数据

PTPN11基因(以及对应的蛋白质)的细胞分布位置:

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

PTPN11基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0004725
A0A0U1RRI0 (UniProtKB)
IEA
GO:0035335
A0A0U1RRI0 (UniProtKB)
IEA
GO:0000077
Q06124 (UniProtKB)
IEA
GO:0000187
Q06124 (UniProtKB)
IEA
GO:0004721
Q06124 (UniProtKB)
IDA
GO:0004725
Q06124 (UniProtKB)
IDA
GO:0004725
Q06124 (UniProtKB)
IDA
GO:0004725
Q06124 (UniProtKB)
TAS
GO:0004725
Q06124 (UniProtKB)
TAS
GO:0004725
Q06124 (UniProtKB)
TAS
GO:0004725
Q06124 (UniProtKB)
TAS
GO:0004726
Q06124 (UniProtKB)
IMP
GO:0004726
Q06124 (UniProtKB)
TAS
GO:0004726
Q06124 (UniProtKB)
TAS
GO:0004726
Q06124 (UniProtKB)
TAS
GO:0004726
Q06124 (UniProtKB)
TAS
GO:0005070
Q06124 (UniProtKB)
IPI
GO:0005158
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005515
Q06124 (UniProtKB)
IPI
GO:0005634
Q06124 (UniProtKB)
IDA
GO:0005737
Q06124 (UniProtKB)
IDA
GO:0005737
Q06124 (UniProtKB)
IDA
GO:0005739
Q06124 (UniProtKB)
IEA
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0005829
Q06124 (UniProtKB)
TAS
GO:0006641
Q06124 (UniProtKB)
IEA
GO:0007173
Q06124 (UniProtKB)
TAS
GO:0007229
Q06124 (UniProtKB)
IEA
GO:0007409
Q06124 (UniProtKB)
IEA
GO:0007420
Q06124 (UniProtKB)
IMP
GO:0007507
Q06124 (UniProtKB)
IMP
GO:0008543
Q06124 (UniProtKB)
TAS
GO:0008543
Q06124 (UniProtKB)
TAS
GO:0008543
Q06124 (UniProtKB)
TAS
GO:0008543
Q06124 (UniProtKB)
TAS
GO:0009755
Q06124 (UniProtKB)
IEA
GO:0014066
Q06124 (UniProtKB)
TAS
GO:0016303
Q06124 (UniProtKB)
TAS
GO:0019904
Q06124 (UniProtKB)
IEA
GO:0021697
Q06124 (UniProtKB)
IEA
GO:0030168
Q06124 (UniProtKB)
TAS
GO:0030220
Q06124 (UniProtKB)
IEA
GO:0030971
Q06124 (UniProtKB)
IEA
GO:0031295
Q06124 (UniProtKB)
TAS
GO:0031748
Q06124 (UniProtKB)
IEA
GO:0032528
Q06124 (UniProtKB)
IEA
GO:0033277
Q06124 (UniProtKB)
IEA
GO:0033628
Q06124 (UniProtKB)
IMP
GO:0033629
Q06124 (UniProtKB)
IEA
GO:0035264
Q06124 (UniProtKB)
IEA
GO:0035265
Q06124 (UniProtKB)
IEA
GO:0035335
Q06124 (UniProtKB)
IMP
GO:0035335
Q06124 (UniProtKB)
IDA
GO:0035855
Q06124 (UniProtKB)
IEA
GO:0036092
Q06124 (UniProtKB)
IEA
GO:0036302
Q06124 (UniProtKB)
IMP
GO:0038127
Q06124 (UniProtKB)
IDA
GO:0040014
Q06124 (UniProtKB)
IEA
GO:0042445
Q06124 (UniProtKB)
IEA
GO:0042593
Q06124 (UniProtKB)
IEA
GO:0043234
Q06124 (UniProtKB)
IEA
GO:0043254
Q06124 (UniProtKB)
IDA
GO:0043274
Q06124 (UniProtKB)
IEA
GO:0043560
Q06124 (UniProtKB)
IEA
GO:0045931
Q06124 (UniProtKB)
IEA
GO:0046676
Q06124 (UniProtKB)
IEA
GO:0046825
Q06124 (UniProtKB)
IEA
GO:0046854
Q06124 (UniProtKB)
IEA
GO:0046887
Q06124 (UniProtKB)
IEA
GO:0046934
Q06124 (UniProtKB)
TAS
GO:0048008
Q06124 (UniProtKB)
IEA
GO:0048011
Q06124 (UniProtKB)
IEA
GO:0048013
Q06124 (UniProtKB)
IDA
GO:0048015
Q06124 (UniProtKB)
TAS
GO:0048609
Q06124 (UniProtKB)
IEA
GO:0048806
Q06124 (UniProtKB)
IMP
GO:0048839
Q06124 (UniProtKB)
IMP
GO:0048873
Q06124 (UniProtKB)
IEA
GO:0050900
Q06124 (UniProtKB)
TAS
GO:0051428
Q06124 (UniProtKB)
IEA
GO:0051463
Q06124 (UniProtKB)
IEA
GO:0060020
Q06124 (UniProtKB)
IEA
GO:0060125
Q06124 (UniProtKB)
IEA
GO:0060325
Q06124 (UniProtKB)
IMP
GO:0060338
Q06124 (UniProtKB)
TAS
GO:0061582
Q06124 (UniProtKB)
IEA
GO:0070374
Q06124 (UniProtKB)
IEA
GO:2001275
Q06124 (UniProtKB)
IDA

可能调控 PTPN11基因的相关microRNA:     

Reactome

MINT

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称
疾病名称 关系值 NofPmids NofSnps 来源
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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