Basic information of HAVCR2 :
| Official Symbol of Gene | HAVCR2 |
| Species | Homo sapiens |
| Entrez Gene ID | 84868 |
| Official Full Name | hepatitis A virus cellular receptor 2 |
| Also known as | TIM3; CD366; KIM-3; SPTCL; TIMD3; Tim-3; TIMD-3; HAVcr-2 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000135077 MIM:606652; AllianceGenome:HGNC:18437 |
| Map Location | 5q33.3 |
| Variation Type | SNP |
| refSNP ID | rs10515746 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | N/A |
| Detected Method | RFLP-PCR |
| Disease | MS |
| Disease subtype | RRMS, SPMS, PPMS |
| Population | Iranian white origin |
| Sample Size | 102 patients / 102 healthy controls |
Literature information of multiple sclerosis :
| Pubmed ID | 27398337 |
| Year | 2016 |
| Title | TIM-3 Rs10515746 (A/C) and Rs10053538 (C/A) Gene Polymorphisms and Risk of Multiple Sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | In this case-control study, analysis of the alleles and genotypes revealed a significant higher frequency of C/C and lower frequency of A/C genotypes for -574 locus of TIM-3 gene in MS patients. Allele C of -574C/C was also more frequent in MS patients. |
| Mechanism/Pathway | TIM-3 is a negative regulator of immune responses that specially expressed on activated Th1 cells, CD8+ T cells and at a lower level on Th17 cells but not on Th2 cells.Dysregulated expression of TIM-3 on T-cells resulted in enhanced T-cell proliferation and IFN-γ secretion following T-cell stimulation. TIM-3 interacts with its ligand (Galectin-9) to regulate T cells responses.Evidence indicates a dysfunction of TIM-3 immunoregulation in MS disease. |
