Details for Gene HOXB3

GENE NAME HOXB3
CHROMOSOME 17
ENSEMBL ID None
ENTREZ ID ENSG00000120093
UNIPROT ACCESSION NUMBER P14651
GO MOLECULAR FUNCTION ['DNA-binding transcription factor activity, RNA polymerase II-specific', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'DNA-binding transcription activator activity, RNA polymerase II-specific']
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-1266738; R-HSA-5617472; R-HSA-5619507
6 combinations linked to HOXB3 OLI1094; OLI1087; OLI1504; OLI1488; OLI1088; OLI1489
6 variants linked to HOXB3 HOXB3:p.Gly163delinsGlyGlyGlyGly; HOXB3:c.196A>C, p.Ser66Arg; HOXB3:c.548C>T, p.Pro183Leu; HOXB3:c.859G>A, p.Glu287Lys; HOXB3:c.290C>A, p.Thr97Asn; HOXB3:c.488_489insCGGCGGCGG, p.Gly163delinsGlyGlyGlyGly
1 disease linked to HOXB3 Congenital hypothyroidism

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