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 |