GENE NAME | IRF8 |
CHROMOSOME | 16 |
ENSEMBL ID | ENSG00000140968 |
ENTREZ ID | 3394 |
UNIPROT ACCESSION NUMBER | Q02556 |
GO MOLECULAR FUNCTION | transcription cis-regulatory region binding; DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding; sequence-specific double-stranded DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific; DNA-binding transcription factor activity |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-909733; R-HSA-913531; R-HSA-1280215; R-HSA-168256; hsa05133; R-HSA-877300 |
1 combination linked to IRF8 | OLI025 |
1 variant linked to IRF8 | IRF8:c.287C>T, p.Thr96Met |
1 disease linked to IRF8 | Primary hemophagocytic lymphohistiocytosis |