MED12 gene homepage

General information
Gene symbol MED12
Gene name mediator complex subunit 12
Chromosome X
Chromosomal band q13
Imprinted Unknown
Genomic reference NG_012808.1
Transcript reference NM_005120.2
Exon/intron information NM_005120.2 exon/intron table
Associated with diseases ID, Lujan-Fryns, OHDOX, OKS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 220
Unique public DNA variants reported 153
Individuals with public variants 126
Hidden variants 17
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project. The database was initiated associated with Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543.
Date created March 06, 2009
Date last updated October 19, 2019
Version MED12:191019

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_005120.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Orphanet
HGNC 11957
Entrez Gene 9968
PubMed articles MED12
OMIM - Gene 300188
OMIM - Diseases Lujan-Fryns (Lujan-Fryns syndrome)
OHDOX (Ohdo syndrome, X-linked (OHDOX))
OKS (Opitz-Kaveggia syndrome (OKS))
GeneCards MED12
GeneTests MED12

Active transcripts




NCBI ID     

NCBI Protein ID     

00000185 X mediator complex subunit 12 NM_005120.2 NP_005111.2 220

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