mediator of RNA polymerase II transcription subunit 12; activator-recruited cofactor 240 kD component; ARC240; CAG repeat protein 45; mediator complex subunit 12; OPA-containing protein; thyroid hormone receptor-associated protein complex 230 kD component; trap230; trinucleotide repeat-containing gene 11 protein (MED12, ARC240, CAGH45, HOPA, KIAA0192, TNRC11, TRAP230)

Function

• component of the mediator complex, a coactivator involved in regulated transcription of nearly all RNA polymerase 2- dependent genes
• this subunit may specifically regulate transcription of targets of the Wnt signaling pathway & SHH signaling pathway
• also interacts with CTNNB1 & GLI3

Structure

• belongs to the mediator complex subunit 12 family

Compartment

nucleus (probable)

Alternative splicing

named isoforms=3

Expression

ubiquitous

Pathology

• defects in MED12 are the cause of
  • Opitz-Kaveggia syndrome
  • Lujan-Fryns syndrome

More general terms

• transcription factor (TF)
• phosphoprotein

Component of

• thyroid hormone receptor associated protein complex (TRAP)
• activator-recruited cofactor (ARC)/DRIP
• mediator complex (mediator of RNA polymerase 2 transcription)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=9968
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:9968
• OMIM: https://mirror.omim.org/entry/300188
• OMIM: https://mirror.omim.org/entry/305450
• OMIM: https://mirror.omim.org/entry/309520
• UniProt: http://www.uniprot.org/uniprot/Q93074.html