Basic information of EVI5 :
| Official Symbol of Gene | EVI5 |
| Species | Homo sapiens |
| Entrez Gene ID | 7813 |
| Official Full Name | ecotropic viral integration site 5 |
| Also known as | NB4S; EVI-5 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000067208 MIM:602942; AllianceGenome:HGNC:3501 |
| Map Location | 1p22.1 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | NA |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | MS |
| Population | NA |
| Sample Size | 803 cases and 1516 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 26433934 |
| Year | 2015 |
| Title | A non-synonymous single-nucleotide polymorphism associated with multiple sclerosis risk affects the EVI5 interactome |
Results of multiple sclerosis :
| Expression | up-regulation |
| Risk type | Disease risk |
| Result | We further show that an exonic SNP associated with risk induces changes in superficial hydrophobicity patterns of the coiled-coil domain of EVI5, which, in turns, affects the EVI5 interactome. Immunoprecipitation of wild-type and mutated EVI5 followed by mass spectrometry generated a roster of disease-specific interactors functionally linked to lipid metabolism. |
| Mechanism/Pathway | Despite recent progress in the characterization of genetic loci associated with multiple sclerosis (MS) risk, the ubiquitous linkage disequilibrium operating across the genome has stalled efforts to distinguish causative variants from proxy single-nucleotide polymorphisms (SNPs). |
