Basic information of CBLB :
| Official Symbol of Gene | CBLB |
| Species | Homo sapiens |
| Entrez Gene ID | 868 |
| Official Full Name | Cbl proto-oncogene B |
| Also known as | Cbl-b; RNF56; Nbla00127 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000114423 MIM:604491; AllianceGenome:HGNC:1542 |
| Map Location | 3q13.11 |
| Variation Type | SNP |
| refSNP ID | rs12487066 |
Sample information of multiple sclerosis:
| Detected Sample | blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | RRMS |
| Population | N/A |
| Sample Size | N/A |
Literature information of multiple sclerosis :
| Pubmed ID | 25261476 |
| Year | 2014 |
| Title | A multiple sclerosis-associated variant of CBLB links genetic risk with type I IFN function |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | The MS risk-related single nucleotide polymorphism of CBLB rs12487066 is associated with diminished CBL-B expression levels. |
| Mechanism/Pathway | Mechanistically, the CBLB rs12487066 risk allele mediates increased binding of the transcription factor C/EBPb and reduced CBL-B expression in human CD4+ T cells. |
