G2Cdb::Gene report

Gene id: G00001453
Gene symbol: PTPN11 (HGNC)
Species: Homo sapiens
Description: protein tyrosine phosphatase, non-receptor type 11
Orthologue: G00000204 (Mus musculus)

Databases (7)
Synonyms (5)
Diseases (25)
Literature (398)
Gene lists (7)

Databases (7)

Gene: ENSG00000179295 (Ensembl human gene); 5781 (Entrez Gene); 16 (G2Cdb plasticity & disease); PTPN11 (GeneCards)
Literature: 176876 (OMIM)
Marker Symbol: HGNC:9644 (HGNC)
Protein Sequence: Q06124 (UniProt)

Synonyms (5)

BPTP3
PTP2C
SH-PTP2
SHP-2
SHP2

Diseases (25)

Disease	Nervous effect	Mutations Found	Literature	Mutations Type	Genetic association?
D00000305: Noonan syndrome	N	Y	(11704759)	Microinsertion (MI)	Y
D00000305: Noonan syndrome	N	Y	(11992261)	Microinsertion (MI)	Y
D00000233: Pulmonary valve stenosis	N	Y	(11992261)	Microinsertion (MI)	Y
D00000304: Leopard syndrome	N	Y	(12058348)	Microinsertion (MI)	Y
D00000305: Noonan syndrome	N	Y	(12161469)	Microinsertion (MI)	Y
D00000304: Leopard syndrome	N	Y	(12161596)	Single nucleotide polymorphism (SNP)	Y
D00000305: Noonan syndrome	N	Y	(12325025)	Microinsertion (MI)	Y
D00000233: Pulmonary valve stenosis	N	Y	(12325025)	Microinsertion (MI)	Y
D00000305: Noonan syndrome	N	Y	(12529711)	Single nucleotide polymorphism (SNP)	Y
D00000305: Noonan syndrome	N	Y	(12717436)	Single nucleotide polymorphism (SNP)	Y
D00000305: Noonan syndrome	N	Y	(12717436)	Microinsertion (MI)	Y
D00000305: Noonan syndrome	N	Y	(12717436)	Trinucleotide substitution (TriNS)	Y
D00000099: Juvenile myelomonocytic leukaemia	N	Y	(12717436)	Single nucleotide polymorphism (SNP)	Y
D00000099: Juvenile myelomonocytic leukaemia	N	Y	(12717436)	Microinsertion (MI)	Y
D00000099: Juvenile myelomonocytic leukaemia	N	Y	(12717436)	Trinucleotide substitution (TriNS)	Y
D00000117: Myelodysplastic syndrome	N	Y	(12717436)	Single nucleotide polymorphism (SNP)	Y
D00000117: Myelodysplastic syndrome	N	Y	(12717436)	Microinsertion (MI)	Y
D00000117: Myelodysplastic syndrome	N	Y	(12717436)	Trinucleotide substitution (TriNS)	Y
D00000093: Acute myeloid leukaemia	N	Y	(12717436)	Single nucleotide polymorphism (SNP)	Y
D00000093: Acute myeloid leukaemia	N	Y	(12717436)	Microinsertion (MI)	Y
D00000093: Acute myeloid leukaemia	N	Y	(12717436)	Trinucleotide substitution (TriNS)	Y
D00000304: Leopard syndrome	N	Y	(14634749)	Single nucleotide polymorphism (SNP)	Y
D00000099: Juvenile myelomonocytic leukaemia	N	Y	(14644997)	Microinsertion (MI)	Y
D00000304: Leopard syndrome	N	Y	(14961557)	Single nucleotide polymorphism (SNP)	Y
D00000305: Noonan syndrome	N	Y	(14974085)	Microinsertion (MI)	Y
D00000089: Childhood acute lymphoblastic leukaemia	N	Y	(14982869)	Microinsertion (MI)	Y
D00000093: Acute myeloid leukaemia	N	Y	(14982869)	Microinsertion (MI)	Y
D00000304: Leopard syndrome	N	Y	(14991917)	Single nucleotide polymorphism (SNP)	Y
D00000235: Hypertrophic cardiomyopathy	N	Y	(14991917)	Single nucleotide polymorphism (SNP)	Y
D00000305: Noonan syndrome	N	Y	(15001945)	Single nucleotide polymorphism (SNP)	Y
D00000117: Myelodysplastic syndrome	N	Y	(15009076)	Unknown (?)	N
D00000093: Acute myeloid leukaemia	N	Y	(15009076)	Unknown (?)	N
D00000099: Juvenile myelomonocytic leukaemia	N	Y	(15085150)	Single nucleotide polymorphism (SNP)	Y
D00000305: Noonan syndrome	N	Y	(15211660)	Deletion (D)	Y
D00000278: Hydrops fetalis	N	Y	(15211660)	Deletion (D)	Y
D00000099: Juvenile myelomonocytic leukaemia	N	Y	(15211660)	Deletion (D)	Y
D00000305: Noonan syndrome	N	Y	(15240615)	Deletion (D)	Y
D00000305: Noonan syndrome	N	Y	(15240615)	Microinsertion (MI)	Y
D00000117: Myelodysplastic syndrome	N	Y	(15282682)	No mutation found (N)	N
D00000093: Acute myeloid leukaemia	N	Y	(15282682)	No mutation found (N)	N
D00000305: Noonan syndrome	N	Y	(15384080)	Microinsertion (MI)	Y
D00000093: Acute myeloid leukaemia	N	Y	(15385933)	Microinsertion (MI)	Y
D00000304: Leopard syndrome	N	Y	(15389709)	Microinsertion (MI)	Y
D00000307: Noonan-like/multiple giant cell lesion syndrome	N	Y	(15470362)	Microinsertion (MI)	Y
D00000304: Leopard syndrome	N	Y	(15520399)	Microinsertion (MI)	Y
D00000305: Noonan syndrome	N	Y	(15539800)	Microinsertion (MI)	Y
D00000305: Noonan syndrome	N	Y	(15539800)	Microinsertion (MI)	Y
D00000099: Juvenile myelomonocytic leukaemia	N	Y	(15539800)	Microinsertion (MI)	Y
D00000235: Hypertrophic cardiomyopathy	N	Y	(15578621)	Polymorphism (P)	N
D00000042: Breast cancer	N	Y	(15604238)	Microinsertion (MI)	Y
D00000028: Lung cancer	N	Y	(15604238)	Microinsertion (MI)	Y
D00000018: Gastric cancer	N	Y	(15604238)	Microinsertion (MI)	Y
D00000066: Neuroblastoma	Y	Y	(15604238)	Microinsertion (MI)	Y
D00000092: Acute myelogenous leukaemia	N	Y	(15604238)	Microinsertion (MI)	Y
D00000304: Leopard syndrome	N	Y	(15690106)	Microinsertion (MI)	?
D00000117: Myelodysplastic syndrome	N	Y	(15725481)	Unknown (?)	?
D00000096: Chronic myelomonocytic leukaemia	N	Y	(15725481)	Unknown (?)	?
D00000093: Acute myeloid leukaemia	N	Y	(15749679)	Unknown (?)	?
D00000093: Acute myeloid leukaemia	N	Y	(15842656)	Unknown (?)	Y
D00000305: Noonan syndrome	N	Y	(15886577)	Unknown (?)	Y
D00000304: Leopard syndrome	N	Y	(15886577)	Unknown (?)	Y
D00000305: Noonan syndrome	N	Y	(15889278)	Microinsertion (MI)	Y
D00000235: Hypertrophic cardiomyopathy	N	Y	(15889278)	Microinsertion (MI)	Y
D00000305: Noonan syndrome	N	Y	(15928039)	Microinsertion (MI)	Y
D00000119: Myeloproliferative disease	N	Y	(15928039)	Microinsertion (MI)	Y
D00000099: Juvenile myelomonocytic leukaemia	N	Y	(15928039)	Microinsertion (MI)	Y
D00000305: Noonan syndrome	N	Y	(15929108)	Unknown (?)	Y
D00000093: Acute myeloid leukaemia	N	Y	(15929108)	Unknown (?)	Y
D00000285: Atrioventricular septal defect	N	Y	(15940693)	Microinsertion (MI)	?
D00000286: Coarctation of the aorta	N	Y	(15940693)	Microinsertion (MI)	?
D00000306: Noonan syndrome with growth hormone resistance	N	Y	(15985475)	Microinsertion (MI)	Y
D00000241: Cherubism	N	Y	(15996221)	Unknown (?)	Y
D00000244: Gastric atrophy	N	Y	(16032704)	Single nucleotide polymorphism (SNP)	Y
D00000305: Noonan syndrome	N	Y	(16078230)	Duplication (Du)	Y
D00000102: Paediatric acute myeloid leukaemia	N	Y	(16115145)	Unknown (?)	?
D00000304: Leopard syndrome	N	Y	(16172598)	Microinsertion (MI)	Y
D00000099: Juvenile myelomonocytic leukaemia	N	Y	(16188759)	Unknown (?)	Y
D00000305: Noonan syndrome	N	Y	(16188759)	Unknown (?)	Y
D00000235: Hypertrophic cardiomyopathy	N	Y	(16488201)	No mutation found (N)	N
D00000305: Noonan syndrome	N	Y	(16498234)	Microinsertion (MI)	Y
D00000066: Neuroblastoma	Y	Y	(16518851)	Microinsertion (MI)	N
D00000040: Rhabdomyosarcoma	N	Y	(16518851)	Microinsertion (MI)	Y
D00000089: Childhood acute lymphoblastic leukaemia	N	Y	(16533526)	Microinsertion (MI)	Y
D00000304: Leopard syndrome	N	Y	(16679933)	Microinsertion (MI)	Y
D00000304: Leopard syndrome	N	Y	(16733669)	Microinsertion (MI)	Y
D00000305: Noonan syndrome	N	Y	(16804314)	Microinsertion (MI)	Y
D00000305: Noonan syndrome	N	Y	(17020470)	Microinsertion (MI)	Y
D00000305: Noonan syndrome	N	Y	(17052965)	Single nucleotide polymorphism (SNP)	Y
D00000305: Noonan syndrome	N	Y	(17184563)	Unknown (?)	Y
D00000313: Aortic valvar stenosis	N	Y	(17184563)	Unknown (?)	Y
D00000244: Gastric atrophy	N	Y	(17235629)	Single nucleotide polymorphism (SNP)	Y
D00000093: Acute myeloid leukaemia	N	Y	(17330262)	Deletion (D)	Y
D00000093: Acute myeloid leukaemia	N	Y	(17330262)	Translocation (T)	Y
D00000117: Myelodysplastic syndrome	N	Y	(17339262)	Deletion (D)	Y
D00000117: Myelodysplastic syndrome	N	Y	(17339262)	Translocation (T)	Y
D00000305: Noonan syndrome	N	Y	(17339163)	Microinsertion (MI)	Y

References

Literature (398)

Pubmed - human_disease

Pubmed - other

Gene lists (7)

Gene List	Source	Species	Name	Description	Gene count
L00000009	G2C	Homo sapiens	Human PSD	Human orthologues of mouse PSD adapted from Collins et al (2006)	1080
L00000015	G2C	Homo sapiens	Human NRC	Human orthologues of mouse NRC adapted from Collins et al (2006)	186
L00000016	G2C	Homo sapiens	Human PSP	Human orthologues of mouse PSP adapted from Collins et al (2006)	1121
L00000034	G2C	Homo sapiens	Pocklington H3	Human orthologues of cluster 3 (mouse) from Pocklington et al (2006)	30
L00000059	G2C	Homo sapiens	BAYES-COLLINS-HUMAN-PSD-CONSENSUS	Human cortex PSD consensus	748
L00000069	G2C	Homo sapiens	BAYES-COLLINS-HUMAN-PSD-FULL	Human cortex biopsy PSD full list	1461
L00000071	G2C	Homo sapiens	BAYES-COLLINS-MOUSE-PSD-FULL	Mouse cortex PSD full list (ortho)	1556