Basic information of RAC2 :
| Official Symbol of Gene | RAC2 |
| Species | Homo sapiens |
| Entrez Gene ID | 5880 |
| Official Full Name | Rac family small GTPase 2 |
| Also known as | Gx; EN-7; IMD73A; IMD73B; IMD73C; HSPC022; p21-Rac2 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000128340 MIM:602049; AllianceGenome:HGNC:9802 |
| Map Location | 22q13.1 |
| Variation Type | Allele |
| refSNP ID | NA |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | NA |
| Detected Method | Real-Time PCR |
| Disease | MS |
| Disease subtype | RRMS |
| Population | Italians of Caucasian ethnicity. |
| Sample Size | 387MS/335Health |
Literature information of multiple sclerosis :
| Pubmed ID | 21680873 |
| Year | 2011 |
| Title | An Evolutionary Analysis of RAC2 Identifies Haplotypes Associated with Human Autoimmune Diseases |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | Results suggest that a region covering the 3#untranslated region has been a target of multiallelic balancing selection (or diversifying selection), and three major RAC2 haplogroups occur in human populations. Haplotypes belonging to one of these clades are associated with increased susceptibility to multiple sclerosis (P 5 0.022) and earlier onset of disease symptoms (P 5 0.025). |
| Mechanism/Pathway | The human RAC2 gene encodes a small GTP-binding protein with a pivotal role in immune activation and in the induction of peripheral immune tolerance through restimulation-induced cell death (RICD) |
