GENE NAME | ARID1A |
CHROMOSOME | 1 |
ENSEMBL ID | ENSG00000117713 |
ENTREZ ID | 8289 |
UNIPROT ACCESSION NUMBER | O14497 |
GO MOLECULAR FUNCTION | nuclear receptor binding; protein binding; transcription coactivator activity; DNA binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-8878171; R-HSA-4839726; hsa05225; R-HSA-74160; hsa04714; R-HSA-3214858; R-HSA-212436; R-HSA-3247509; R-HSA-73857; R-HSA-8939243 |
3 combinations linked to ARID1A | OLI733; OLI721; OLI702 |
2 variants linked to ARID1A | ARID1A:c.5717G>A, p.Arg1906Gln; ARID1A:c.472C>T, p.Pro158Ser |
1 disease linked to ARID1A | Isolated anencephaly |