Basic information of PTPN6 :
| Official Symbol of Gene | PTPN6 |
| Species | Homo sapiens |
| Entrez Gene ID | 5777 |
| Official Full Name | protein tyrosine phosphatase non-receptor type 6 |
| Also known as | HCP; HCPH; SHP1; SHP-1; HPTP1C; PTP-1C; SHP-1L; SH-PTP1 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000111679 MIM:176883; AllianceGenome:HGNC:9658 |
| Map Location | 12p13.31 |
| Variation Type | methylation |
| refSNP ID | N/A |
Sample information of multiple sclerosis:
| Detected Sample | N/A |
| Sample Detail | N/A |
| Detected Method | bisulfite sequencing |
| Disease | MS |
| Disease subtype | RRMS,PPMS,SPMS |
| Population | N/A |
| Sample Size | 69 MS / 19 normal subjects |
Literature information of multiple sclerosis :
| Pubmed ID | 22458980 |
| Year | 2012 |
| Title | Increased promoter methylation of the immune regulatory gene SHP-1 in leukocytes of multiple sclerosis subjects |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | Over a third of MS subjects had abnormally high promoter methylation. |
| Mechanism/Pathway | The protein tyrosine phosphatase, SHP-1, is a negative regulator of proinflammatory signaling and autoimmune disease. Recent evidence indicates that virus-induced DNA methylation of the SHP-1 promoter is responsible for aberrant silencing of SHP-1 expression and function in hematopoietic cells that might relate to inflammatory diseases. |
