Basic information of USP18 :
| Official Symbol of Gene | USP18 |
| Species | Homo sapiens |
| Entrez Gene ID | 11274 |
| Official Full Name | ubiquitin specific peptidase 18 |
| Also known as | ISG43; UBP43; PTORCH2 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000184979 MIM:607057; AllianceGenome:HGNC:12616 |
| Map Location | 22q11.21 |
| Variation Type | SNP |
| refSNP ID | rs2252257 |
Sample information of multiple sclerosis:
| Detected Sample | Peripheral blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | NMOSD |
| Disease subtype | N/A |
| Population | Chinese |
| Sample Size | 10 families with NMOSD (22 cases and 459 cases) |
Literature information of multiple sclerosis :
| Pubmed ID | 36376024 |
| Year | 2022 |
| Title | Clinical and genetic analysis of familial neuromyelitis optica spectrum disorder in Chinese: associated with ubiquitin-specific peptidase USP18 gene variants |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Most clinical characteristics of familial NMOSD were indistinguishable from sporadic NMOSD except for the worst episodes severity. USP18 with impaired intronic regulatory function contributed to the pathogenesis of NMOSD |
| Result | The single-nucleotide polymorphism (SNP) rs2252257 in the promoter and enhancer of ubiquitin-specific peptidase USP18 was linked to familial NMOSD (p=7.8E-05, logarithm of the odds (LOD)=3.1), SNPs rs361553, rs2252257 and rs5746523 were related to sporadic NMOSD (p=1.29E-10, 3.45E-07 and 2.01E09, respectively). Patients with the SNP rs361553 T/T genotype had higher recurrence rate than C/T or C/C genotype (1.22±0.85 vs 0.69±0.57 and 0.81±0.65, p=0.003 and 0.001, respectively). SNPs rs361553 and rs2252257 altered USP18 expression in brain and nerve tissues. |
| Mechanism/Pathway | USP18 gene consists of 11 exons and 10 introns |
