MED12

GENE INFORMATION

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Gene name

MED12 (HGNC Symbol)

Synonyms

CAGH45, FGS1, HOPA, KIAA0192, OKS, OPA1, TNRC11, TRAP230

Description

Mediator complex subunit 12 (HGNC Symbol)

Entrez gene summary

The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009]

Chromosome

X

Cytoband

q13.1

Chromosome location (bp)

71118556 - 71142454

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000184634 (version 78.38)

Entrez gene

9968

UniProt

Q93074 (UniProt - Evidence at protein level)

neXtProt

NX_Q93074

Antibodypedia

MED12 antibodies
 

PROTEIN VIEW

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MED12-001
 
MED12-002
 
MED12-005
 
MED12-010
 
MED12-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MED12-001 ENSP00000363215
ENST00000374102
Q93074
Show all »
Show » Show » 2176 243 No 0
MED12-002 ENSP00000363193
ENST00000374080
Q93074
Show all »
Show » Show » 2177 243.1 No 0
MED12-005 ENSP00000399084
ENST00000429213
Show » Show » 130 14.4 No 0
MED12-010 ENSP00000404373
ENST00000444034
Show » Show » 251 27.5 No 0
MED12-201 ENSP00000333125
ENST00000333646
Q7Z3Z5
Show all »
Show » Show » 2027 226.3 No 0