Hs06935558_cn

• Gene Symbol: PTPN11
• Assay Reference Genome Location: Chr.12:112426176 on build GRCh38
• Cytoband: 12q24.13

Target Gene Details

• Entrez Gene ID: 5781
• Gene Name: protein tyrosine phosphatase, non-receptor type 11
• Gene Aliases: BPTP3, CFC, JMML, METCDS, NS1, PTP-1D, PTP2C, SH-PTP2, SH-PTP3, SHP2
• Location: Chr.12:112418732-112509913 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PTPN11	NM_002834.3			NP_002825.3
	NM_080601.1			NP_542168.1
	XM_006719526.2			XP_006719589.1
	XM_011538613.2			XP_011536915.1
	XM_017019722.1			XP_016875211.1
	AK289854.1
	BC008692.1			AAH08692.1
	D13540.1			BAA02740.2
	L03535.1			AAA36611.1
	L07527.1			AAA17022.1
	L08807.1
	X70766.1			CAA50045.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1043127	Chr.12:112419957 - 112462894 on Build GRCh38	Gain	PTPN11

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

protein phosphatase

Gene Ontology Categories:

Process(es)

DNA damage checkpoint
activation of MAPK activity
triglyceride metabolic process
epidermal growth factor receptor signaling pathway
integrin-mediated signaling pathway
axonogenesis
brain development
heart development
fibroblast growth factor receptor signaling pathway
hormone-mediated signaling pathway
regulation of phosphatidylinositol 3-kinase signaling
cerebellar cortex formation
platelet activation
platelet formation
T cell costimulation
microvillus organization
abortive mitotic cell cycle
regulation of cell adhesion mediated by integrin
negative regulation of cell adhesion mediated by integrin
multicellular organism growth
organ growth
peptidyl-tyrosine dephosphorylation
megakaryocyte development
phosphatidylinositol-3-phosphate biosynthetic process
atrioventricular canal development
ERBB signaling pathway
regulation of multicellular organism growth
hormone metabolic process
glucose homeostasis
regulation of protein complex assembly
positive regulation of mitotic cell cycle
negative regulation of insulin secretion
regulation of protein export from nucleus
phosphatidylinositol phosphorylation
positive regulation of hormone secretion
platelet-derived growth factor receptor signaling pathway
neurotrophin TRK receptor signaling pathway
ephrin receptor signaling pathway
phosphatidylinositol-mediated signaling
multicellular organismal reproductive process
genitalia development
inner ear development
homeostasis of number of cells within a tissue
leukocyte migration
negative regulation of cortisol secretion
Bergmann glial cell differentiation
negative regulation of growth hormone secretion
face morphogenesis
regulation of type I interferon-mediated signaling pathway
intestinal epithelial cell migration
positive regulation of ERK1 and ERK2 cascade
positive regulation of glucose import in response to insulin stimulus

Function(s)

phosphoprotein phosphatase activity
protein tyrosine phosphatase activity
non-membrane spanning protein tyrosine phosphatase activity
SH3/SH2 adaptor activity
insulin receptor binding
protein binding
1-phosphatidylinositol-3-kinase activity
protein domain specific binding
receptor tyrosine kinase binding
D1 dopamine receptor binding
phospholipase binding
insulin receptor substrate binding
phosphatidylinositol-4,5-bisphosphate 3-kinase activity
peptide hormone receptor binding