Details for Gene TBX4

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

Found any issues with the data on this page? Report this entry.