Basic information of NOTCH4 :
| Official Symbol of Gene | NOTCH4 |
| Species | Homo sapiens |
| Entrez Gene ID | 4855 |
| Official Full Name | notch receptor 4 |
| Also known as | INT3 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000204301 MIM:164951; AllianceGenome:HGNC:7884 |
| Map Location | 6p21.32 |
| Variation Type | SNP |
| refSNP ID | rs422951 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | PBMC |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | Japanese |
| Sample Size | 118 MS patients and 152 healthy controls，106 NMO/NMOSD patients |
Literature information of multiple sclerosis :
| Pubmed ID | 23549433 |
| Year | 2013 |
| Title | A NOTCH4 missense mutation confers resistance to multiple sclerosis in Japanese |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | negative |
| Result | This NOTCH4 missense mutation decreased the risk for developing MS in Japanese, but did not affect clinical features of those who had already developed the disease |
| Mechanism/Pathway | missense mutation |
