GENE NAME | PAX8 |
CHROMOSOME | 2 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000125618 |
UNIPROT ACCESSION NUMBER | Q06710 |
GO MOLECULAR FUNCTION | ['thyroid-stimulating hormone receptor activity', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'DNA-binding transcription activator activity, RNA polymerase II-specific', 'transcription cis-regulatory region binding', 'DNA-binding transcription factor activity, RNA polymerase II-specific', 'DNA binding', 'sequence-specific double-stranded DNA binding', 'protein binding', 'DNA-binding transcription factor activity'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04918; hsa05200; hsa05202; hsa05216; hsa04918; hsa05200; hsa05202; hsa05216 |
4 combinations linked to PAX8 | OLI1093; OLI1507; OLI591; OLI593 |
3 variants linked to PAX8 | PAX8:p.Lys135Arg; PAX8:p.Gly78Ser; PAX8:c.1037C>T, p.Pro346Leu |
1 disease linked to PAX8 | Congenital hypothyroidism |