GENE NAME | MAML3 |
CHROMOSOME | 4 |
ENSEMBL ID | ENSG00000196782 |
ENTREZ ID | 55534 |
UNIPROT ACCESSION NUMBER | Q96JK9 |
GO MOLECULAR FUNCTION | transcription coactivator activity |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-157118; R-HSA-186712; R-HSA-73857; R-HSA-2644603; R-HSA-2894858; R-HSA-1912422; R-HSA-2894862; R-HSA-9012852; R-HSA-2644602; R-HSA-1643685; R-HSA-8941856; R-HSA-210744; R-HSA-2644606; R-HSA-1266738; hsa05165; hsa04658; R-HSA-2197563; R-HSA-1980145; R-HSA-2122947; R-HSA-9013695; R-HSA-212436; R-HSA-9013694; R-HSA-9013508; R-HSA-350054; R-HSA-5663202; R-HSA-74160; R-HSA-1912408; R-HSA-162582; R-HSA-1980143; hsa04330; R-HSA-8878159 |
5 combinations linked to MAML3 | OLI602; OLI604; OLI351; OLI346; OLI603 |
4 variants linked to MAML3 | MAML3:c.1612A>G, p.Met538Val; MAML3:c.2969C>T, p.Pro990Leu; MAML3:c.903C>T, p.Asp301=; MAML3:c.881A>G, p.Asn294Ser |
2 diseases linked to MAML3 | Disorder of sex development; 46,XY disorder of sex development |