Basic information of KIR2DL3 :
| Official Symbol of Gene | KIR2DL3 |
| Species | Homo sapiens |
| Entrez Gene ID | 22185807 |
| Official Full Name | complement factor B |
| Also known as | BF; FB; BFD; GBG; CFAB; CFBD; PBF2; AHUS4; FBI12; H2-Bf; ARMD14 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000243649 MIM:138470; AllianceGenome:HGNC:1037 |
| Map Location | 6p21.33 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | NA |
| Detected Method | qPCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | NA |
| Sample Size | NA |
Literature information of multiple sclerosis :
| Pubmed ID | 22185807 |
| Year | 2012 |
| Title | Killer immunoglobulin-like receptor locus polymorphisms in multiple sclerosis |
Results of multiple sclerosis :
| Expression | down-regulation |
| Risk type | Disease risk |
| Result | Absence of the inhibitory KIR2DL3 gene is associated with the development of CIS/CDMS. These findings, if confirmed in larger cohorts, suggest that KIR-mediated recognition of HLA class I molecules should be further explored as potential disease mechanism in MS. |
| Mechanism/Pathway | The objective of this study was to analyze whether inhibitory and activating killer cell immunoglobulin-like receptors (KIRs) and human leukocyte antigen (HLA) class I alleles defined by their KIR binding motifs are associated with multiple sclerosis (MS) susceptibility or severity. |
