GENE NAME | HOXD3 |
CHROMOSOME | 2 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000128652 |
UNIPROT ACCESSION NUMBER | None |
GO MOLECULAR FUNCTION | ['RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'DNA-binding transcription activator activity, RNA polymerase II-specific', 'DNA-binding transcription factor activity, RNA polymerase II-specific', 'sequence-specific double-stranded DNA binding', 'protein binding', 'RNA polymerase II transcription regulatory region sequence-specific DNA binding'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-1266738; R-HSA-5617472; R-HSA-5619507 |
1 combination linked to HOXD3 | OLI1489 |
1 variant linked to HOXD3 | HOXD3:c.575C>G, p.Pro192Arg |
1 disease linked to HOXD3 | Congenital hypothyroidism |