GENE NAME | SIX3 |
CHROMOSOME | 2 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000138083 |
UNIPROT ACCESSION NUMBER | O95343 |
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', 'sequence-specific double-stranded DNA binding', 'transcription corepressor binding', 'protein binding'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | |
2 combinations linked to SIX3 | OLI1242; OLI687 |
2 variants linked to SIX3 | Copy Number Variant deletion on chromosome 2 of the whole gene in the gene SIX3; SIX3:c.221C>G, p.Pro74Arg |
2 diseases linked to SIX3 | Holoprosencephaly; Non-acquired combined pituitary hormone deficiency |