Gene: MED12

Alternate names for this Gene: ARC240|CAGH45|FGS1|HOPA|Kto|MED12S|OHDOX|OKS|OPA1|TNRC11|TRAP230

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.

Gene is located in Chromosome: X

Location in Chromosome : Xq13.1

Description of this Gene: mediator complex subunit 12

Type of Gene: protein-coding

rs1057519912 in MED12 gene and Adenocarcinoma of pancreas PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519912 in MED12 gene and Adenocarcinoma of prostate PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1556334793 in MED12 gene and Dysmorphic features PMID 26273451 2015 Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].

PMID 8279489 1993 Two additional cases of the Ohdo blepharophimosis syndrome.

PMID 23395478 2013 Mutations in MED12 cause X-linked Ohdo syndrome.

PMID 25644381 2016 X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

PMID 26338144 2015 Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

PMID 24039113 2013 Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

PMID 20970104 2010 Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.

PMID 17036352 2006 Psychopathology in the Lujan-Fryns syndrome: report of two patients and review.

PMID 17334363 2007 A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

PMID 17369503 2007 The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.

PMID 20507344 2011 A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).

PMID 17103446 2006 Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report.

PMID 10405444 1999 Clinical and behavioral characteristics in FG syndrome.

PMID 16700052 2006 Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

rs80338758 in MED12 gene and FG syndrome PMID 17334363 2007 A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

PMID 19938245 2009 We ascertained 23 males with the p.R961W mutation in MED12 from 9 previously reported FG syndrome families and 1 new family.Six patients are reviewed in detail.

PMID 20981778 2010 (2007); Nature Genetics 39:451-453] identified an identical mutation (p.R961W) in MED12 in six families with Opitz-Kaveggia syndrome, including a surviving affected man from the original family reported in 1974.

rs1057519912 in MED12 gene and Gastric Adenocarcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs80338759 in MED12 gene and Lujan Fryns syndrome PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

PMID 17369503 2007 The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.

rs1057519912 in MED12 gene and Mammary Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1556334793 in MED12 gene and Multiple congenital anomalies PMID 24039113 2013 Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

PMID 26273451 2015 Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].

PMID 26338144 2015 Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

PMID 17103446 2006 Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report.

PMID 23395478 2013 Mutations in MED12 cause X-linked Ohdo syndrome.

PMID 20970104 2010 Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.

PMID 25644381 2016 X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

PMID 8279489 1993 Two additional cases of the Ohdo blepharophimosis syndrome.

PMID 17036352 2006 Psychopathology in the Lujan-Fryns syndrome: report of two patients and review.

PMID 16700052 2006 Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

PMID 17334363 2007 A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

PMID 20507344 2011 A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).

PMID 17369503 2007 The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.

PMID 10405444 1999 Clinical and behavioral characteristics in FG syndrome.

rs1057519912 in MED12 gene and Squamous cell carcinoma of lung PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.