Details for Gene IRF8

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

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