Basic information of TGFBR2 :
| Official Symbol of Gene | TGFBR2 |
| Species | Homo sapiens |
| Entrez Gene ID | 7048 |
| Official Full Name | transforming growth factor beta receptor 2 |
| Also known as | AAT3; FAA3; LDS2; MFS2; RIIC; LDS1B; LDS2B; TAAD2; TBRII; TBR-ii; TGFR-2; tbetaR-II; TGFbeta-RII |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000163513 MIM:190182; AllianceGenome:HGNC:11773 |
| Map Location | 3p24.1 |
| Variation Type | Allele |
| refSNP ID | NA |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | NA |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | RRMS |
| Population | Bulgarian patients. |
| Sample Size | 183MS/307Control |
Literature information of multiple sclerosis :
| Pubmed ID | 33480235 |
| Year | 2020 |
| Title | A link between promoter polymorphisms of the transforming growth factor β1 (TGFB1) and TGF-β1 receptor II (TGFBR2) genes and relapsing-remitting multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | In summary, we suggest that in males, a higher TGF-β1 level determined by TGFB1T[-509]T genotype in combination with the TGFBR2G[-875]A genotype might be a protective factor against RRMS development. |
| Mechanism/Pathway | Multiple sclerosis (MS) is a chronic progressive autoimmune disease characterised by nerve demye-lination, mediated by myelin-specific Th1 autoreactive cells. |
