GENE NAME | HOXD13 |
CHROMOSOME | 2 |
ENSEMBL ID | ENSG00000128714 |
ENTREZ ID | 3239 |
UNIPROT ACCESSION NUMBER | P35453 |
GO MOLECULAR FUNCTION | DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding; sequence-specific double-stranded DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific; DNA-binding transcription factor activity; DNA binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | |
1 combination linked to HOXD13 | OLI341 |
1 variant linked to HOXD13 | HOXD13:c.814G>A, p.Val272Ile |
1 disease linked to HOXD13 | Isolated Klippel-Feil syndrome |