GENE NAME | GATA2 |
CHROMOSOME | 3 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000179348 |
UNIPROT ACCESSION NUMBER | P23769 |
GO MOLECULAR FUNCTION | ['zinc ion binding', 'chromatin binding', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'C2H2 zinc finger domain binding', 'sequence-specific double-stranded DNA binding', 'RNA polymerase II-specific DNA-binding transcription factor binding', 'protein binding', 'transcription coactivator binding', 'DNA-binding transcription activator activity, RNA polymerase II-specific', 'DNA-binding transcription factor activity', 'transcription coregulator binding', 'DNA-binding transcription factor activity, RNA polymerase II-specific'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-109582; R-HSA-1266738; R-HSA-212436; R-HSA-73857; R-HSA-74160; R-HSA-8878171; R-HSA-8939236; R-HSA-9616222; R-HSA-983231 |
1 combination linked to GATA2 | OLI1720 |
1 variant linked to GATA2 | GATA2:p.Arg348Ter |
1 disease linked to GATA2 | Common variable immunodeficiency |