Details for Gene HOXD13

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

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