Details for Gene SIX3

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

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