GENE NAME | GFI1 |
CHROMOSOME | 1 |
ENSEMBL ID | ENSG00000162676 |
ENTREZ ID | 2672 |
UNIPROT ACCESSION NUMBER | Q99684 |
GO MOLECULAR FUNCTION | protein binding; transcription cis-regulatory region binding; DNA binding; DNA-binding transcription repressor activity, RNA polymerase II-specific; metal ion binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-9616222; R-HSA-1266738 |
1 combination linked to GFI1 | OLI831 |
1 variant linked to GFI1 | GFI1:c.1145A>G, p.Asn382Ser |
2 diseases linked to GFI1 | Severe congenital neutropenia; Non-syndromic genetic deafness |