Details for Gene SALL2

GENE NAME SALL2
CHROMOSOME 14
ENSEMBL ID ENSG00000165821
ENTREZ ID 6297
UNIPROT ACCESSION NUMBER Q9Y467
GO MOLECULAR FUNCTION RNA polymerase II transcription regulatory region sequence-specific DNA binding; protein binding; DNA-binding transcription activator activity, RNA polymerase II-specific; DNA binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific; metal ion binding
ESSENTIAL IN MOUSE Non-essential
PATHWAYS
4 combinations linked to SALL2 OLI703; OLI723; OLI732; OLI748
3 variants linked to SALL2 SALL2:c.503C>T, p.Pro168Leu; SALL2:c.499C>A, p.Pro167Thr; SALL2:c.2282A>G, p.Glu761Gly
1 disease linked to SALL2 Isolated anencephaly

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