GENE NAME | MED12 |
CHROMOSOME | X |
ENSEMBL ID | ENSG00000184634 |
ENTREZ ID | 9968 |
UNIPROT ACCESSION NUMBER | Q93074 |
GO MOLECULAR FUNCTION | transcription coregulator activity; beta-catenin binding; transcription coactivator activity; protein binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04919; R-HSA-74160; R-HSA-381340; R-HSA-556833; R-HSA-212436; R-HSA-1266738; R-HSA-1989781; R-HSA-400206; R-HSA-1430728; R-HSA-73857 |
1 combination linked to MED12 | OLI746 |
1 variant linked to MED12 | MED12:c.4232G>A, p.Ser1411Asn |
1 disease linked to MED12 | Isolated anencephaly |