Details for Gene PAX8

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

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