Details for Gene MED12

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

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