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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
a) Opitz-Kaveggia syndrome
b) Lujan-Fryns syndrome
General
phosphoprotein
transcription factor (TF)
Properties
SIZE: entity length = 2177 aa
MW = 243 kD
COMPARTMENT: cell nucleus
MOTIF: Tyr phosphorylation site {Y166}
Ser phosphorylation site {S635}
Ser phosphorylation site {S698}
Ser phosphorylation site {S700}
Ser phosphorylation site {S1258}
Ser phosphorylation site {S1269}
CTNNB1/GLI3 interaction {1616-2051}
MOTIF: proline-rich region
SITE: 1732-1777
MOTIF: proline residue (SEVERAL)
glutamine-rich region {1900-2168}
MOTIF: glutamine residue (SEVERAL)
Database Correlations
OMIM correlations
MORBIDMAP 300188
UniProt Q93074
PFAM correlations
Entrez Gene 9968
Kegg hsa:9968
References
- UniProt :accession Q93074
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/MED12
Component-of
mediator complex (mediator of RNA polymerase 2 transcription)