Basic information of RNF213 :
| Official Symbol of Gene | RNF213 |
| Species | Homo sapiens |
| Entrez Gene ID | 57674 |
| Official Full Name | ring finger protein 213 |
| Also known as | ALO17; MYMY2; MYSTR; NET57; C17orf27; KIAA1618 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000173821 MIM:613768; AllianceGenome:HGNC:14539 |
| Map Location | 17q25.3 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | N/A |
| Detected Method | Real-time PCR |
| Disease | MS |
| Disease subtype | RRMS,PPMS,SPMS |
| Population | N/A |
| Sample Size | 72 MS patients / 74 HCs |
Literature information of multiple sclerosis :
| Pubmed ID | 34584155 |
| Year | 2021 |
| Title | Expression and clinical significance of IL7R, NFATc2, and RNF213 in familial and sporadic multiple sclerosis |
Results of multiple sclerosis :
| Expression | up-regulation |
| Risk type | Disease risk |
| Result | Our results also represented an increased expression level of RNF213 in familial patients as compared to the control group. |
| Mechanism/Pathway | RNF213 is an ATPase and E3 ubiquitin ligase protein, which is involved in the angiogenesis, and degradation of FLNA and NFATc2, that leads to the inhibition of Wnt/Ca2+ pathway.Consequently, RNF213 deficiency has been shown to cause an increased expression of NFAT target genes. |
