Basic information of TFR2 :
| Official Symbol of Gene | TFR2 |
| Species | Homo sapiens |
| Entrez Gene ID | 7036 |
| Official Full Name | transferrin receptor 2 |
| Also known as | HFE3; TFRC2 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000106327 MIM:604720; AllianceGenome:HGNC:11762 |
| Map Location | 7q22.1 |
| Variation Type | SNP |
| refSNP ID | rs7385804 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood leukocytes |
| Sample Detail | N/A |
| Detected Method | Real-time PCR |
| Disease | MS |
| Disease subtype | RRMS, PPMS, SPMS |
| Population | N/A |
| Sample Size | 176 MS patients |
Literature information of multiple sclerosis :
| Pubmed ID | 35682458 |
| Year | 2022 |
| Title | Hepcidin (rs10421768), Transferrin (rs3811647, rs1049296) and Transferrin Receptor 2 (rs7385804) Gene Polymorphism Might Be Associated with the Origin of Multiple Sclerosis |
Results of multiple sclerosis :
| Risk Type | Phenotypic risk |
| Main Result | Negative |
| Result | No statistically significant correlation was found between the TFR2 rs7385804 genotypes and the subjects with continuous variables in any of the analyzed inheritance models. |
| Mechanism/Pathway | TFR2 has a lower affinity for TF than TFR1, it is mainly expressed in the mitochondria of dopaminergic neurons and, unlike TFR1, it is not controlled by intracellular iron levels because it lacks iron-sensitive elements.Research indicates the participation of TFR2 in the regulation of iron levels by influencing the indirect activation of hepcidin, the main regulator of iron levels in the body. TFR2 gene as a possible variant regulating iron levels in clinically healthy people.The presence of polymorphisms in the genes of iron metabolism may modulate iron deposition in the body and thus affect the clinical course of the disease. |
