Gene table of MED12 : mediator complex subunit 12

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MED12	OMIM link	Number of associated genes	genes
305450	OPITZ-KAVEGGIA SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	MED12
150699	LEIOMYOMA, UTERINE	ClinVar	link to OMIM	2	MED12, HMGA2
300895	OHDO SYNDROME, X-LINKED	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	MED12
309520	LUJAN-FRYNS SYNDROME	OMIM, HUMSAVAR	link to OMIM	1	MED12

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Annotation of the gene MED12

Associated genes in ENSEMBL

ENSG00000184634

Associated proteins - SwissProt Accession ID

Q93074

Associated PDB IDs

Cytogenetic Band

Xq13.1

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Thyroid hormone signaling pathway	hsa04919	5.82

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
PPARA activates gene expression	R-HSA-1989781	6.18
Generic Transcription Pathway	R-HSA-212436	3.86
Gene Expression	R-HSA-74160	2.72
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)	R-HSA-400206	6.14
Transcriptional regulation of white adipocyte differentiation	R-HSA-381340	6.7
Metabolism	R-HSA-1430728	2.34
Fatty acid, triacylglycerol, and ketone body metabolism	R-HSA-535734	5.44
Metabolism of lipids and lipoproteins	R-HSA-556833	3.79
Developmental Biology	R-HSA-1266738	3.48

Associated GO terms for Molecular function

GO term	GO ID	GO IC
protein C-terminus binding	GO:0008022	4.5
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
enhancer sequence-specific DNA binding	GO:0001158	5.36
molecular transducer activity	GO:0060089	2.32
transcription factor activity, RNA polymerase II transcription factor binding	GO:0001076	4.84
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
transcriptional repressor activity, RNA polymerase II activating transcription factor binding	GO:0098811	5.77
heterocyclic compound binding	GO:1901363	1.06
protein domain specific binding	GO:0019904	3.32
ubiquitin-like protein transferase activity	GO:0019787	3.69
sequence-specific DNA binding	GO:0043565	2.79
transcriptional repressor activity, RNA polymerase II transcription factor binding	GO:0001191	5.28
sequence-specific double-stranded DNA binding	GO:1990837	3.2
ubiquitin protein ligase activity	GO:0061630	4.47
transcription coactivator activity	GO:0003713	4.04
transcription cofactor activity	GO:0003712	3.44
transferase activity	GO:0016740	1.95
vitamin D receptor binding	GO:0042809	6.91
transcription factor activity, transcription factor binding	GO:0000989	3.36
transcription factor activity, protein binding	GO:0000988	3.35
double-stranded DNA binding	GO:0003690	3.09
RNA polymerase II transcription coactivator activity	GO:0001105	6.15
RNA polymerase II distal enhancer sequence-specific DNA binding	GO:0000980	5.58
regulatory region nucleic acid binding	GO:0001067	3.03
transcription factor binding	GO:0008134	3.46
nuclear hormone receptor binding	GO:0035257	4.7
beta-catenin binding	GO:0008013	5.3
ligand-dependent nuclear receptor transcription coactivator activity	GO:0030374	5.77
RNA polymerase II transcription cofactor activity	GO:0001104	5.22
catalytic activity	GO:0003824	1.05
transcriptional activator activity, RNA polymerase II transcription factor binding	GO:0001190	5.77
enhancer binding	GO:0035326	5.21
hormone receptor binding	GO:0051427	4.57
ubiquitin-protein transferase activity	GO:0004842	3.73
ubiquitin-like protein ligase activity	GO:0061659	4.44
transcription regulatory region DNA binding	GO:0044212	3.03
thyroid hormone receptor binding	GO:0046966	6.34
organic cyclic compound binding	GO:0097159	1.05
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
receptor binding	GO:0005102	2.43
chromatin binding	GO:0003682	3.64
receptor activity	GO:0004872	2.32