Gene

PTPN11

protein tyrosine phosphatase non-receptor type 11

Explore in graph →CI-GENE-00022507HGNC:9644 ENSG00000179295 NCBI 5781 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (9)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–9 of 9 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
FLT3 ITD + FLT3 TKD MUTATION + KRAS Exon 2-3 Mutation + NRAS EXON 2-3 MUTATION + PTPN11 MutationFLT3 NRAS PTPN11 KRAS1
Selumetinib	Acute Lymphoblastic Leukemia

Cohorts

Alteration frequency by cohort (75)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved75 cohort rows (showing 25, sorted by frequency) · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Metastatic Melanoma (MSK, JCO Precis Oncol 2017) skcm_vanderbilt_mskcc_2015	Cutaneous Melanoma	Ssm	1

Literature

Linked publications (1)

25 per page, newest first.

pubmedPublishedShowing 1–1 of 1 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

SHP2 promotes laryngeal cancer growth through the Ras/Raf/Mek/Erk pathway and serves as a prognostic indicator for laryngeal cancer.
· Int J Oncol · 2014 · PMID 24297342 · validated civic_curation pubmed

PTPN11 A461T1
(functional)	—UNRESOLVED	Functional	D	Supports Dominant Negative	3	submitted	EID10885 The LEOPARD syndrome associated mutation A461T is found in the protein-tyrosine phosphatase domain of Shp2 (encoded by PTPN11) and is predicted to affect catalysis. An assay to assess catalytic activi… (full text at CIViC) PMID 16377799 · Kontaridis et al., 2006 · Open in CIViC	civic

PTPN11 A461T1

(functional)

—UNRESOLVED

Functional

Supports Dominant Negative

submitted

EID10885

The LEOPARD syndrome associated mutation A461T is found in the protein-tyrosine phosphatase domain of Shp2 (encoded by PTPN11) and is predicted to affect catalysis. An assay to assess catalytic activi… (full text at CIViC)

PMID 16377799 · Kontaridis et al., 2006 · Open in CIViC

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PTPN11 D61Y1
(diagnostic)	Juvenile Myelomonocytic Leukemia	Diagnostic	B	Supports Positive	3	submitted	EID6967 We identified missense mutations in PTPN11 in 21 of 62 individuals with JMML but without Noonan syndrome (34%; 95% confidence interval (c.i.) = 22–47%), with nine different molecular defects in exon 3… (full text at CIViC) PMID 12717436 · Tartaglia et al., 2003 · Open in CIViC	civic

PTPN11 D61Y1

(diagnostic)

Juvenile Myelomonocytic Leukemia

Diagnostic

Supports Positive

submitted

EID6967

We identified missense mutations in PTPN11 in 21 of 62 individuals with JMML but without Noonan syndrome (34%; 95% confidence interval (c.i.) = 22–47%), with nine different molecular defects in exon 3… (full text at CIViC)

PMID 12717436 · Tartaglia et al., 2003 · Open in CIViC

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PTPN11 Glu76Lys3
(oncogenic)	Malignant NeoplasmALIAS	Oncogenic	D	Supports Oncogenicity	5	submitted	EID12997 PTPN11 p.Glu76Lys (NM_002834.5:c.226G>A) cause both basal and GM-CSF-stimulated hyperproliferation. PMID 15644411 · Chan et al., 2005 · Open in CIViC	civic
〃	Malignant NeoplasmALIAS	Oncogenic	D	Supports Oncogenicity	4	submitted	EID12996 PTPN11 (SHP2) p.Glu76Lys (NM_002834.5:c.226G>A) transforms primary murine myeloid cells. PMID 15710330 · Mohi et al., 2005 · Open in CIViC	civic
(functional)	—UNRESOLVED	Functional	D	Supports Gain Of Function	4	submitted	EID12998 PTPN11 (SHP2) p.Glu76Lys (NM_002834.5:c.226G>A) causes increased phosphatase activity. PMID 16358218 · Tartaglia et al., 2006 · Open in CIViC	civic

PTPN11 Glu76Lys3

(oncogenic)

Malignant NeoplasmALIAS

Oncogenic

Supports Oncogenicity

submitted

EID12997

PTPN11 p.Glu76Lys (NM_002834.5:c.226G>A) cause both basal and GM-CSF-stimulated hyperproliferation.

PMID 15644411 · Chan et al., 2005 · Open in CIViC

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〃

Malignant NeoplasmALIAS

Oncogenic

Supports Oncogenicity

submitted

EID12996

PTPN11 (SHP2) p.Glu76Lys (NM_002834.5:c.226G>A) transforms primary murine myeloid cells.

PMID 15710330 · Mohi et al., 2005 · Open in CIViC

civic

(functional)

—UNRESOLVED

Functional

Supports Gain Of Function

submitted

EID12998

PTPN11 (SHP2) p.Glu76Lys (NM_002834.5:c.226G>A) causes increased phosphatase activity.

PMID 16358218 · Tartaglia et al., 2006 · Open in CIViC

civic

PTPN11 Mutation1
(diagnostic)	Pilocytic Astrocytoma	Diagnostic	C	Supports Positive	3	submitted	EID7153 Genetic alterations in pilocytic astrocytoma (PA) were evaluated. Two alterations were found in the PTPN11 (aka SHP-2) gene, encoding a RAS-MAPK-related adaptor protein and phosphatase. Both alteratio… (full text at CIViC) PMID 23817572 · Jones et al., 2013 · Open in CIViC	civic

PTPN11 Mutation1

(diagnostic)

Pilocytic Astrocytoma

Diagnostic

Supports Positive

submitted

EID7153

Genetic alterations in pilocytic astrocytoma (PA) were evaluated. Two alterations were found in the PTPN11 (aka SHP-2) gene, encoding a RAS-MAPK-related adaptor protein and phosphatase. Both alteratio… (full text at CIViC)

PMID 23817572 · Jones et al., 2013 · Open in CIViC

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PTPN11 Overexpression1
(prognostic)	Laryngeal Carcinoma	Prognostic	B	Supports Poor Outcome	2	accepted	EID1316 Study explored the expression of the PTPN11 protein (SHP2) and found that expression was increased in a cohort of 112 laryngeal cancer samples. Expression was also associated with poor survival (p=.02… (full text at CIViC) PMID 24297342 · Gu et al., 2014 · Open in CIViC	civic

PTPN11 Overexpression1

(prognostic)

Laryngeal Carcinoma

Prognostic

Supports Poor Outcome

accepted

EID1316

Study explored the expression of the PTPN11 protein (SHP2) and found that expression was increased in a cohort of 112 laryngeal cancer samples. Expression was also associated with poor survival (p=.02… (full text at CIViC)

PMID 24297342 · Gu et al., 2014 · Open in CIViC

civic

PTPN11 R351Q1
(oncogenic)	Malignant NeoplasmALIAS	Oncogenic	E	Does Not Support Oncogenicity	5	submitted	EID12992 For the PTPN11 R351Q variant, the South Asian allele frequency of 0.003712 is ≥ 0.0005 (based on gnomAD v4.1.0 (non-UKB)). The total Grpmax filtering allele frequency is not listed in gnomAD v4.1.0 (n… (full text at CIViC) PMID 34859531 · Gudmundsson et al., 2022 · Open in CIViC	civic

PTPN11 R351Q1

(oncogenic)

Malignant NeoplasmALIAS

Oncogenic

Does Not Support Oncogenicity

submitted

EID12992

For the PTPN11 R351Q variant, the South Asian allele frequency of 0.003712 is ≥ 0.0005 (based on gnomAD v4.1.0 (non-UKB)). The total Grpmax filtering allele frequency is not listed in gnomAD v4.1.0 (n… (full text at CIViC)

PMID 34859531 · Gudmundsson et al., 2022 · Open in CIViC

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