GENE NAME | TBX4 |
CHROMOSOME | 17 |
ENSEMBL ID | ENSG00000121075 |
ENTREZ ID | 9496 |
UNIPROT ACCESSION NUMBER | P57082 |
GO MOLECULAR FUNCTION | RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA-binding transcription factor activity; DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | |
1 combination linked to TBX4 | OLI006 |
1 variant linked to TBX4 | TBX4:c.1018C>T, p.Arg340Ter |
1 disease linked to TBX4 | Pulmonary arterial hypertension associated with congenital heart disease |