full name
mediator complex subunit 12

synonyms
ARC240, CAGH45, FGS1, HOPA, MED12S, OHDOX, OKS, OPA1, TNRC11, TRAP230, MED12, ENSG00000184634

HGNC
HGNC:11957

Entrez Gene
Gene:9968

ENSEMBL
ENSG00000184634

location
chr: X
start: 70338406
stop: 70362304
strand: +

OMIM
OMIM:300188: MED12 (X-linked recessive inheritance)
OMIM:309520: Lujan-Fryns syndrome
OMIM:300895: Ohdo syndrome, X-linked
OMIM:305450: Opitz-Kaveggia syndrome

transcripts
NM_005120.2

pathways
Developmental Biology [NCBI:1270302] [REACTOME:R-HSA-1266738]
Fatty acid, triacylglycerol, and ketone body metabolism [NCBI:1270010] [REACTOME:R-HSA-535734]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Generic Transcription Pathway [NCBI:1269650] [REACTOME:R-HSA-212436] [PUBMED:15175151] [PUBMED:14744435] [PUBMED:15680972] [PUBMED:11395415] [PUBMED:15896744] [PUBMED:10235266] [PUBMED:14986688] [PUBMED:12023297] [PUBMED:15680973] [PUBMED:16751179] [PUBMED:11861166] [PUBMED:16429119] [PUBMED:16719718] [PUBMED:16921404] [PUBMED:15690163]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of lipids and lipoproteins [NCBI:1270001] [REACTOME:R-HSA-556833]
PPARA activates gene expression [NCBI:1270030] [REACTOME:R-HSA-1989781] [PUBMED:10529898] [PUBMED:18288277] [PUBMED:11330046] [PUBMED:20936127] [PUBMED:14999402]
Regulation of Wnt-mediated beta catenin signaling and target gene transcription [NCBI:169352] [Pathway Interaction Database:wnt_beta_catenin_pathway] [PUBMED:19901072] [PUBMED:19699733] [PUBMED:15142975] [PUBMED:16565090] [PUBMED:17372190] [PUBMED:17310985] [PUBMED:11751639] [PUBMED:16301527] [PUBMED:10921920] [PUBMED:8622675] [PUBMED:19571879] [PUBMED:11445543] [PUBMED:19066453] [PUBMED:15768032] [PUBMED:10704849] [PUBMED:19940019] [PUBMED:15378020] [PUBMED:10318916] [PUBMED:10617567] [PUBMED:19435523] [PUBMED:18511409] [PUBMED:18006687] [PUBMED:14638683] [PUBMED:15782138] [PUBMED:15143193] [PUBMED:9671490] [PUBMED:11263497] [PUBMED:18193033] [PUBMED:9751710] [PUBMED:11532957] [PUBMED:10898789] [PUBMED:11266540] [PUBMED:17090534] [PUBMED:15492215] [PUBMED:16309666] [PUBMED:12502739] [PUBMED:10980707] [PUBMED:17945188] [PUBMED:11572874] [PUBMED:11809808] [PUBMED:17113388] [PUBMED:20128690] [PUBMED:17709391] [PUBMED:11500377] [PUBMED:12464179] [PUBMED:18347071] [PUBMED:18347094] [PUBMED:15592430] [PUBMED:10958684] [PUBMED:12408825] [PUBMED:15525529] [PUBMED:16581771] [PUBMED:12052822] [PUBMED:15668231] [PUBMED:16014379] [PUBMED:17923689] [PUBMED:15592505] [PUBMED:10984057] [PUBMED:20044351] [PUBMED:11940574] [PUBMED:10747853] [PUBMED:12606575] [PUBMED:15728254] [PUBMED:11080158] [PUBMED:12446687] [PUBMED:20128911] [PUBMED:19816403] [PUBMED:18573912] [PUBMED:17397822] [PUBMED:10489374] [PUBMED:17052462] [PUBMED:20371816] [PUBMED:18347063] [PUBMED:11035805] [PUBMED:11792709] [PUBMED:16899215] [PUBMED:10882123] [PUBMED:12200448] [PUBMED:15060161] [PUBMED:12711682] [PUBMED:12582159] [PUBMED:12646922] [PUBMED:19460168] [PUBMED:16778892] [PUBMED:17306568] [PUBMED:12712206] [PUBMED:19711354] [PUBMED:17893322] [PUBMED:10934025] [PUBMED:19503085] [PUBMED:19433865]
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) [NCBI:1270029] [REACTOME:R-HSA-400206] [PUBMED:18288277] [PUBMED:10529898] [PUBMED:16476485] [PUBMED:16503871]
Thyroid hormone signaling pathway [NCBI:946598] [KEGG:hsa04919] [PUBMED:20005976] [PUBMED:17983645] [PUBMED:15345678] [PUBMED:16951130] [PUBMED:16214361] [PUBMED:18329679] [PUBMED:20051527] [PUBMED:17574003] [PUBMED:19716314] [PUBMED:19755667] [PUBMED:20868274] [PUBMED:21835053] [PUBMED:16051672] [PUBMED:19295177] [PUBMED:23021374] [PUBMED:22484490]
Transcriptional regulation of white adipocyte differentiation [NCBI:1270345] [REACTOME:R-HSA-381340] [PUBMED:21082419] [PUBMED:17956727] [PUBMED:17475546] [PUBMED:1840554] [PUBMED:17139329] [PUBMED:15860371] [PUBMED:18518822] [PUBMED:10603305] [PUBMED:7531665] [PUBMED:20054179] [PUBMED:7838715] [PUBMED:16054042] [PUBMED:17060461] [PUBMED:17011499] [PUBMED:16380219] [PUBMED:8970730]