GENE NAME | HNF4A |
CHROMOSOME | 20 |
ENSEMBL ID | ENSG00000101076 |
ENTREZ ID | 3172 |
UNIPROT ACCESSION NUMBER | P41235 |
GO MOLECULAR FUNCTION | protein binding; DNA binding; sequence-specific DNA binding; DNA-binding transcription factor activity; metal ion binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-74160; hsa04152; R-HSA-73857; R-HSA-383280; hsa04950; R-HSA-212436 |
1 combination linked to HNF4A | OLI203 |
1 variant linked to HNF4A | HNF4A:c.379C>T, p.Arg127Trp |
1 disease linked to HNF4A | MODY |