PTPN11

Description 
protein tyrosine phosphatase, non-receptor type 11, PTP-2C, protein tyrosine phosphatase-2, protein-tyrosine phosphatase 1D, protein-tyrosine phosphatase 2C, tyrosine-protein phosphatase non-receptor type 11

 

PTPN11 (NM_002834.3) encodes the Src homology-2 (SH2) domain-containing non-transmembrane protein tyrosine phosphatase, SHP2.  SHP2 functions as part of the RAS-MAP kinase pathway, and is involved in complex intracellular signaling that regulates cellular proliferation, differentiation and apoptosis.  PTPN11 is located at 12q24.13 and is composed of 15 exons.  Mutations in PTPN11 cause ~ 50% of Noonan syndrome (NS) and ~90% of LEOPARD syndrome (LS).  NS is an autosomal dominant condition characterized by short stature, congenital heart defects, and variable developmental delay.  PTPN11 mutations are often observed in individuals with NS who have pulmonic stenosis.  Hypertrophic cardiomyopathy (HCM) is reported in ~8% of individuals with NS who have a PTPN11 mutation (Lauriol and Kontaridis. 2011. Trends Cardiovasc Med. 21(4):97-104).  LS is a rare autosomal dominant condition and is an acyronym for Lentingines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness.  Approximately 50% of patients with LS have cardiac defects, and up to 80% of those patients have HCM (Tartaglia, Gelb and Zenker. 2011. Best Pract Clin Endocrinol Metab. 25(1):161-179). 

Aliases 
BPTP3, CFC, MGC14433, NS1, PTP-1D, PTP2C, SH-PTP2, SH-PTP3, SHP2
Chromosomal Locations 
12q24.13