GENE NAME | GLIS3 |
CHROMOSOME | 9 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000107249 |
UNIPROT ACCESSION NUMBER | Q8NEA6 |
GO MOLECULAR FUNCTION | ['RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'DNA-binding transcription activator activity, RNA polymerase II-specific', 'DNA-binding transcription factor activity, RNA polymerase II-specific', 'protein binding', 'metal ion binding', 'DNA-binding transcription repressor activity, RNA polymerase II-specific'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | |
9 combinations linked to GLIS3 | OLI472; OLI582; OLI1077; OLI1496; OLI583; OLI595; OLI1486; OLI585; OLI593 |
10 variants linked to GLIS3 | GLIS3:p.Ala753Val; GLIS3:c.74G>A, p.Gly25Asp; GLIS3:c.1126C>T, p.Pro376Ser; GLIS3:c.1090C>T, p.Pro364Ser; GLIS3:c.1536C>A, p.Asp512Glu; GLIS3:c.31C>T, p.His11Tyr; GLIS3:c.1145C>A, p.Pro382Gln; GLIS3:c.1200C>A, p.His400Gln; GLIS3:c.2723C>T, p.Ala908Val; GLIS3:c.1200C>G, p.His400Gln |
1 disease linked to GLIS3 | Congenital hypothyroidism |