SGCE and MED12

		SGCE	MED12
Description		sarcoglycan epsilon	mediator complex subunit 12
Image		No pdb structure
GO Annotations	Cellular Component	Golgi Membrane Cytoplasm Endoplasmic Reticulum Membrane Golgi Apparatus Cytoskeleton Plasma Membrane Dystrophin-associated Glycoprotein Complex Sarcoglycan Complex Membrane Dendrite Dendrite Membrane Sarcolemma Cell Projection	Ubiquitin Ligase Complex Nucleus Nucleoplasm Membrane Mediator Complex CKM Complex
	Molecular Function		RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding Chromatin Binding Transcription Coregulator Activity Transcription Coactivator Activity Protein Binding Beta-catenin Binding Nuclear Vitamin D Receptor Binding Nuclear Thyroid Hormone Receptor Binding Ubiquitin Protein Ligase Activity
	Biological Process	Cell-matrix Adhesion Muscle Organ Development	Somitogenesis Neural Tube Closure Regulation Of Transcription By RNA Polymerase II Endoderm Development Heart Development Oligodendrocyte Development Schwann Cell Development Protein Ubiquitination Spinal Cord Development Neural Tube Development Somatic Stem Cell Population Maintenance Post-anal Tail Morphogenesis Positive Regulation Of DNA-templated Transcription Positive Regulation Of Transcription By RNA Polymerase II Embryonic Organ Development Embryonic Neurocranium Morphogenesis Wnt Signaling Pathway, Planar Cell Polarity Pathway Positive Regulation Of Transcription Initiation By RNA Polymerase II Axis Elongation Involved In Somitogenesis Embryonic Brain Development
Pathways		Formation of the dystrophin-glycoprotein complex (DGC) Formation of the dystrophin-glycoprotein complex (DGC)	PPARA activates gene expression Generic Transcription Pathway Transcriptional regulation of white adipocyte differentiation Transcriptional regulation of white adipocyte differentiation RSV-host interactions MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
Drugs
Diseases		Primary torsion dystonia (PTD)	MED12-related disorders, including: Lujan-Fryns syndrome (LFS); Lujan syndrome; X-linked mental retardation with Marfanoid habitus; FG syndrome type 1 (FGS1); Opitz-Kaveggia syndrome FG syndrome (FGS); Opitz-Kaveggia syndrome
GWAS			High light scatter reticulocyte count ( 32888494) High light scatter reticulocyte percentage of red cells ( 32888494) Immature fraction of reticulocytes ( 32888494) Reticulocyte count ( 32888494) Reticulocyte fraction of red cells ( 32888494) Uterine fibroids ( 31649266)
Interacting Genes		4 interacting genes: ARIH2 CWC15 KEAP1 PPP1CC	15 interacting genes: CDK8 CEBPA ESR1 ESR2 GLI3 LYST MED1 MED13 MED26 MED8 MED9 NANOG PPARGC1A SOX9 SREBF1
Entrez ID		8910	9968
HPRD ID		04999	02176
Ensembl ID		ENSG00000127990	ENSG00000184634
Uniprot IDs		A0A0S2Z4P5 A0A2R8Y448 A0A2R8Y5J3 A0A2R8YGQ3 B4DP78 C9JR67 E9PEH6 O43556	Q93074
PDB IDs			8TQ2 8TQC 8TQW
Enriched GO Terms of Interacting Partners?			Positive Regulation Of Transcription By RNA Polymerase II Positive Regulation Of DNA-templated Transcription Positive Regulation Of RNA Biosynthetic Process Positive Regulation Of RNA Metabolic Process Positive Regulation Of DNA-templated Transcription Initiation Positive Regulation Of Nucleobase-containing Compound Metabolic Process Mediator Complex Regulation Of DNA-templated Transcription Initiation RNA Polymerase II Preinitiation Complex Assembly Regulation Of Transcription By RNA Polymerase II Transcription Preinitiation Complex Assembly Positive Regulation Of Transcription Initiation By RNA Polymerase II Positive Regulation Of Macromolecule Biosynthetic Process Regulation Of Transcription Initiation By RNA Polymerase II Positive Regulation Of Biosynthetic Process Protein-DNA Complex Assembly Positive Regulation Of Macromolecule Metabolic Process Regulation Of DNA-templated Transcription Regulation Of RNA Biosynthetic Process Transcription Coregulator Activity Regulation Of RNA Metabolic Process Positive Regulation Of Metabolic Process Negative Regulation Of Transcription By RNA Polymerase II Sequence-specific DNA Binding Regulation Of Nucleobase-containing Compound Metabolic Process Core Mediator Complex Nucleoplasm Negative Regulation Of DNA-templated Transcription Negative Regulation Of RNA Biosynthetic Process RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding Negative Regulation Of RNA Metabolic Process Chromatin Positive Regulation Of Transcription Elongation By RNA Polymerase II Regulation Of Gene Expression Negative Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of Macromolecule Biosynthetic Process Positive Regulation Of DNA-templated Transcription, Elongation Regulation Of Primary Metabolic Process Nucleobase-containing Compound Biosynthetic Process Regulation Of Stem Cell Proliferation DNA-binding Transcription Factor Activity Regulation Of Transcription Elongation By RNA Polymerase II Regulation Of Macromolecule Metabolic Process DNA-templated Transcription Macromolecule Biosynthetic Process Regulation Of DNA-templated Transcription Elongation Chromatin Binding Nuclear Estrogen Receptor Activity Mammary Gland Branching Involved In Pregnancy DNA Binding
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