GENE NAME | MAML2 |
CHROMOSOME | 11 |
ENSEMBL ID | ENSG00000184384 |
ENTREZ ID | 84441 |
UNIPROT ACCESSION NUMBER | Q8IZL2 |
GO MOLECULAR FUNCTION | transcription coactivator activity |
ESSENTIAL IN MOUSE | None |
PATHWAYS | hsa04658; R-HSA-2197563; hsa05165; R-HSA-1266738; R-HSA-212436; R-HSA-9013694; R-HSA-2122947; R-HSA-9013695; R-HSA-1980145; R-HSA-350054; R-HSA-5663202; R-HSA-74160; R-HSA-9013508; hsa04330; R-HSA-8878159; R-HSA-162582; R-HSA-1980143; R-HSA-1912408; R-HSA-210744; R-HSA-2644603; R-HSA-2894858; R-HSA-186712; R-HSA-73857; R-HSA-157118; R-HSA-1912422; R-HSA-2894862; R-HSA-9012852; R-HSA-8941856; R-HSA-1643685; R-HSA-2644602; R-HSA-2644606 |
3 combinations linked to MAML2 | OLI352; OLI604; OLI601 |
3 variants linked to MAML2 | MAML2:c.385G>A, p.Asp129Asn; MAML2:c.722G>A, p.Arg241Gln; MAML2:c.620G>A, p.Arg207His |
2 diseases linked to MAML2 | Disorder of sex development; 46,XY disorder of sex development |