GENE NAME | GFI1B |
CHROMOSOME | 9 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000165702 |
UNIPROT ACCESSION NUMBER | Q5VTD9 |
GO MOLECULAR FUNCTION | ['RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'sequence-specific double-stranded DNA binding', 'RNA polymerase II-specific DNA-binding transcription factor binding', 'protein binding', 'DNA-binding transcription activator activity, RNA polymerase II-specific', 'metal ion binding', 'DNA-binding transcription factor activity, RNA polymerase II-specific'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | |
1 combination linked to GFI1B | OLI1738 |
1 variant linked to GFI1B | GFI1B:c.576C>T, p.Phe192= |
1 disease linked to GFI1B | Isolated constitutional thrombocytopenia,PMM2-CDG |