| GENE NAME | TBX5 |
| CHROMOSOME | 12 |
| ENSEMBL ID | ENSG00000089225 |
| ENTREZ ID | 6910 |
| UNIPROT ACCESSION NUMBER | Q99593 |
| GO MOLECULAR FUNCTION | protein binding; DNA-binding transcription factor activity, RNA polymerase II-specific; DNA binding; DNA-binding transcription activator activity, RNA polymerase II-specific; DNA-binding transcription factor activity; RNA polymerase II-specific DNA-binding transcription factor binding; sequence-specific DNA binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-397014; R-HSA-212436; R-HSA-5578768; R-HSA-2032785; R-HSA-73857; R-HSA-5576891; R-HSA-74160 |
| 1 combination linked to TBX5 | OLI984 |
| 1 variant linked to TBX5 | TBX5:c.331G>T, p.Asp111Tyr |
| 1 disease linked to TBX5 | Odontochondrodysplasia |