MITF and RERE

		MITF	RERE
Description		melanocyte inducing transcription factor	arginine-glutamic acid dipeptide repeats
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GO Annotations	Cellular Component	Chromatin Nucleus Nucleoplasm Cytoplasm Lysosome Lysosomal Membrane Cytosol Membrane Protein-containing Complex	Histone Deacetylase Complex Nucleus Nucleoplasm Nuclear Body
	Molecular Function	RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific DNA-binding Transcription Repressor Activity, RNA Polymerase II-specific DNA-binding Transcription Activator Activity, RNA Polymerase II-specific DNA Binding Chromatin Binding DNA-binding Transcription Factor Activity Protein Binding Protein Dimerization Activity E-box Binding	Chromatin Binding Transcription Coactivator Activity Transcription Corepressor Activity Protein Binding Zinc Ion Binding Sequence-specific DNA Binding Metal Ion Binding
	Biological Process	Negative Regulation Of Transcription By RNA Polymerase II Regulation Of DNA-templated Transcription Regulation Of Transcription By RNA Polymerase II Regulation Of Gene Expression Positive Regulation Of Gene Expression Wnt Signaling Pathway Cell Differentiation Osteoclast Differentiation Melanocyte Differentiation Negative Regulation Of Cell Migration Regulation Of Cell Population Proliferation Camera-type Eye Development Negative Regulation Of Apoptotic Process Pigmentation Cell Fate Commitment Regulation Of Osteoclast Differentiation Positive Regulation Of DNA-templated Transcription Positive Regulation Of Transcription By RNA Polymerase II Bone Remodeling Protein-containing Complex Assembly Melanocyte Apoptotic Process Positive Regulation Of DNA-templated Transcription Initiation Regulation Of RNA Biosynthetic Process	Chromatin Remodeling Regulation Of DNA-templated Transcription Cerebellum Development Cerebellar Purkinje Cell Layer Maturation Cerebellar Granule Cell Precursor Proliferation Radial Glia Guided Migration Of Purkinje Cell Negative Regulation Of DNA-templated Transcription Positive Regulation Of DNA-templated Transcription Branching Morphogenesis Of A Nerve Dendrite Morphogenesis
Pathways		SUMOylation of transcription factors Transcriptional and post-translational regulation of MITF-M expression and activity
Drugs
Diseases		Malignant melanoma Ocular albinism; Ocular albinism, type I (OA1); Waardenburg syndrome, type II (WS2-OA) Waardenburg syndrome (WS)
GWAS		Apolipoprotein B levels ( 32203549) Blond vs. brown/black hair color ( 30531825) Brain morphology (min-P) ( 32665545) Brain morphology (MOSTest) ( 32665545) Carotid intima media thickness x smoking interaction ( 32117412) Chronotype ( 30696823) Circulating fibroblast growth factor 23 levels ( 30217807) Coronary artery disease ( 33020668) Cortical surface area (MOSTest) ( 32665545) Cutaneous malignant melanoma ( 32341527) Hematocrit ( 32888494 27863252) Hemoglobin ( 32888494) Hemoglobin concentration ( 27863252) Hemoglobin levels ( 32327693) Hypertrophic cardiomyopathy (sarcomere negative) ( 33495597) LDL cholesterol levels ( 32203549) Low density lipoprotein cholesterol levels ( 32154731) Myocardial infarction ( 33532862) Neutrophil count ( 32888494) Nevus count or cutaneous melanoma ( 32341527) Platelet count ( 32888494) Plateletcrit ( 32888494) Pulse pressure ( 27841878) QRS complex (12-leadsum) ( 27659466) Red blood cell count ( 32888494 27863252) Renal underexcretion gout ( 32238385) Severe influenza A (H1N1) infection ( 26379185) Subcortical volume (min-P) ( 32665545) Subcortical volume (MOSTest) ( 32665545) Systolic blood pressure ( 27841878) Triglyceride levels ( 32203549) Waist-hip index ( 34021172)	Allergic disease (asthma, hay fever or eczema) ( 29083406) Allergic rhinitis ( 30013184) Allergy ( 27182965) Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) ( 31835028) Appendicular lean mass ( 33097823) Asthma ( 34103634 32296059 31619474 31361310 30929738) Asthma (adult onset) ( 30929738) Asthma (moderate or severe) ( 30552067) Asthma and major depressive disorder ( 31619474) Asthma or allergic disease (pleiotropy) ( 29785011) Autism spectrum disorder or schizophrenia ( 28540026) Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) ( 23453885) Autoimmune thyroid disease ( 32581359) Body size at age 10 ( 32376654) Chronic obstructive pulmonary disease or high blood pressure (pleiotropy) ( 30940143) Daytime nap ( 33568662) Depression ( 29700475) Diastolic blood pressure ( 27841878) Eosinophil count ( 32888494 27863252) Eosinophil percentage of granulocytes ( 27863252) Eosinophil percentage of white cells ( 32888494 27863252) Feeling miserable ( 29500382) Femoral neck bone mineral density ( 22504420) Fish- and plant-related diet ( 32066663) Glaucoma (primary open-angle) ( 33627673) Heel bone mineral density ( 28869591 30598549) Hippocampal volume in normal cognition ( 29274321) Loneliness ( 31518406) Lymphocyte count ( 32888494 27863252) Major depressive disorder ( 27479909) Medication use (adrenergics, inhalants) ( 31015401) Neutrophil count ( 32888494) Neutrophil percentage of granulocytes ( 27863252) Optic cup area ( 25631615 28073927) Parkinson's disease ( 32201043) Refractive error ( 32231278) Schizophrenia ( 28991256 29483656 30285260) Smoking initiation ( 30617275 33082346) Smoking status (ever vs never smokers) ( 30643258) Sum eosinophil basophil counts ( 27863252) Systemic lupus erythematosus ( 33536424) Systolic blood pressure ( 30578418) Tonsillectomy ( 28928442 27182965) Total body bone mineral density ( 29304378) Total carotid plaque area (excess vs minimal atherosclerosis) ( 32811377) Upper eyelid morphology ( 29921221) Vertical cup-disc ratio ( 25241763 20548946) Vertical cup-disc ratio (multi-trait analysis) ( 31959993) Vitiligo ( 20410501 27723757) White blood cell count ( 32888494 27863252)
Interacting Genes		33 interacting genes: ADRB2 APP BTRC CLK4 CTNNB1 EBP EP300 FBXO7 FBXW11 FOS GSK3B HINT1 HK3 LEF1 MAPK1 MAPK14 MARK3 OTX2 PATZ1 PAX3 PAX6 PIAS1 PIAS2 PIAS3 PSMD14 RPS6KA1 SPI1 STUB1 SUMO1 TFE3 TFEB TFEC UBE2I	25 interacting genes: ALG13 ATN1 CBFA2T2 CCDC120 ECM1 EFEMP1 EFEMP2 EHMT2 H3C14 KAT6A KRTAP12-4 KRTAP4-12 KRTAP6-2 LZTR1 NR2E1 PLSCR1 PRRC2A PRRC2B PSMA3 RBFOX2 SNRPC TRIM22 TRIP6 VHL ZMYND8
Entrez ID		4286	473
HPRD ID		01138	05566
Ensembl ID		ENSG00000187098	ENSG00000142599
Uniprot IDs		A0A087WXU1 A0A8I5KSZ4 B4DNC7 O75030	Q9P2R6
PDB IDs		4C7N 7D8R 7D8S 7D8T 7EOD 8E1D	2YQK
Enriched GO Terms of Interacting Partners?		Regulation Of DNA-templated Transcription Positive Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of RNA Biosynthetic Process Regulation Of Primary Metabolic Process Regulation Of Nucleobase-containing Compound Metabolic Process Positive Regulation Of RNA Biosynthetic Process Positive Regulation Of DNA-templated Transcription Regulation Of Transcription By RNA Polymerase II Regulation Of RNA Metabolic Process Positive Regulation Of Metabolic Process Positive Regulation Of Macromolecule Metabolic Process Nucleus Positive Regulation Of RNA Metabolic Process Regulation Of Metabolic Process Regulation Of Macromolecule Metabolic Process Regulation Of Macromolecule Biosynthetic Process Positive Regulation Of Biosynthetic Process Positive Regulation Of Macromolecule Biosynthetic Process Regulation Of Gene Expression Protein Modification Process Positive Regulation Of Transcription By RNA Polymerase II Nucleoplasm Negative Regulation Of RNA Metabolic Process Enzyme Binding Ubiquitin Protein Ligase Binding Regulation Of Intracellular Signal Transduction Negative Regulation Of DNA-templated Transcription Negative Regulation Of RNA Biosynthetic Process Negative Regulation Of Nucleobase-containing Compound Metabolic Process Transcription Coregulator Binding Negative Regulation Of Transcription By RNA Polymerase II Regulation Of Signal Transduction Post-translational Protein Modification Protein Sumoylation Cell Surface Receptor Signaling Pathway SUMO Transferase Activity Positive Regulation Of Cell Differentiation Chromatin Protein Metabolic Process Regulation Of Cell Differentiation Positive Regulation Of Developmental Process Regulation Of Hemopoiesis Positive Regulation Of Proteolysis Negative Regulation Of Intracellular Signal Transduction Regulation Of Myeloid Cell Differentiation Regulation Of Cell Communication Regulation Of Signaling Presynaptic Cytosol Postsynaptic Cytosol Chromatin Binding	Negative Regulation Of DNA-templated Transcription Negative Regulation Of RNA Biosynthetic Process Negative Regulation Of RNA Metabolic Process Negative Regulation Of Nucleobase-containing Compound Metabolic Process Negative Regulation Of Transcription By RNA Polymerase II Regulation Of DNA-templated Transcription Nucleoplasm Regulation Of RNA Biosynthetic Process Negative Regulation Of Macromolecule Biosynthetic Process Negative Regulation Of Macromolecule Metabolic Process DNA-binding Transcription Factor Binding Negative Regulation Of Biosynthetic Process Regulation Of RNA Metabolic Process Transcription Corepressor Activity Negative Regulation Of Metabolic Process Regulation Of Transcription By RNA Polymerase II Regulation Of Nucleobase-containing Compound Metabolic Process Cajal Body Protein Binding Developmental Process Zinc Ion Binding Camera-type Eye Development Positive Regulation Of RNA Biosynthetic Process Positive Regulation Of DNA-templated Transcription Positive Regulation Of RNA Metabolic Process Extracellular Matrix Structural Constituent Regulation Of Gene Expression Epidermal Growth Factor Receptor Binding Eye Development DNA-binding Transcription Repressor Activity, RNA Polymerase II-specific Forebrain Generation Of Neurons Histone H3K56 Methyltransferase Activity Positive Regulation Of Smooth Muscle Cell-matrix Adhesion N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase Activity Endoplasmic Reticulum Tubular Network Maintenance
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