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 | OLI1088; OLI1087; OLI1488; OLI1094; OLI1489; OLI1504 |
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 |