protein tyrosine phosphatase non-receptor type 11
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Adult solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood solid tumours
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEmbryonal tumour of possible germline origin
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal hydrops
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedHaematological malignancies cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown+21 more panels — install the extension to see the full list inline on any page.
Noonan syndrome
Noonan syndrome with multiple lentigines
juvenile myelomonocytic leukemia
LEOPARD syndrome 1
metachondromatosis
acute myeloid leukemia
cancer
RASopathy
Noonan syndrome and Noonan-related syndrome
Abnormality of the cardiovascular system
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Tyrosine-protein phosphatase non-receptor type 11
Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signal transduction from the cell surface to the nucleus (PubMed:10655584, PubMed:14739280, PubMed:18559669, PubMed:18829466, PubMed:26742426, PubMed:28074573, PubMed:32184441). Positively regulates MAPK signal transduction pathway (PubMed:28074573). Dephosphorylates GAB1, ARHGAP35 and EGFR (PubMed:28074573). Dephosphorylates ROCK2 at 'Tyr-722' resulting in stimulation of its RhoA binding activity (PubMed:18559669). Dephosphorylates CDC73 (PubMed:26742426). Dephosphorylates SOX9 on tyrosine residues, leading to inactivate SOX9 and promote ossification (By similarity). Dephosphorylates tyrosine-phosphorylated NEDD9/CAS-L (PubMed:19275884). Acts as an effector of PDCD1-mediated inhibition of T-cell response: recruited by phosphorylated PDCD1, mediating dephosphorylation of key T-cell receptor (TCR) proximal signaling molecules, leading to TCR signaling inhibition (PubMed:32184441)
Curated MONDO disease pages that list PTPN11 among their top associated genes.
PTPN11 · Q06124
Mean pLDDT
85.9/ 100
Confident
593 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
