ARX and SETD2

Number of citations: 54 (PubMedID 21653829)
Data Source: BioGRID (two hybrid)

		ARX	SETD2
Name		aristaless related homeobox	SET domain containing 2, histone lysine methyltransferase
Structure		No pdb structure
GO Annotations	Cellular Component	Chromatin Nucleus	Nucleus Nucleoplasm Chromosome Cytoplasm
	Molecular Function	RNA Polymerase II Transcription Regulatory Region Sequence-specific DNA Binding 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 Protein Binding Sequence-specific Double-stranded DNA Binding	Protein Binding Methyltransferase Activity Protein-lysine N-methyltransferase Activity Transferase Activity Histone Methyltransferase Activity Alpha-tubulin Binding Metal Ion Binding Histone H3K36 Methyltransferase Activity Histone H3 Methyltransferase Activity Histone H3K36 Trimethyltransferase Activity
	Biological Process	Negative Regulation Of Transcription By RNA Polymerase II Neuron Migration Regulation Of DNA-templated Transcription Regulation Of Transcription By RNA Polymerase II Nervous System Development Axon Guidance Positive Regulation Of Gene Expression Globus Pallidus Development Olfactory Bulb Development Cerebral Cortex Tangential Migration Embryonic Olfactory Bulb Interneuron Precursor Migration Cell Proliferation In Forebrain Cerebral Cortex GABAergic Interneuron Migration Cell Differentiation Forebrain Development Organ Growth Lipid Digestion Positive Regulation Of Transcription By RNA Polymerase II Positive Regulation Of Organ Growth Neuron Fate Commitment Neuron Development Regulation Of Epithelial Cell Proliferation Epithelial Cell Fate Commitment Interneuron Migration	Autophagosome Assembly Immune System Process DNA Repair Mismatch Repair Chromatin Organization Regulation Of DNA-templated Transcription Transcription Elongation By RNA Polymerase II DNA Damage Response Response To Metal Ion Regulation Of Gene Expression Proteasomal Protein Catabolic Process Positive Regulation Of Autophagy Regulation Of Double-strand Break Repair Via Homologous Recombination Regulation Of MRNA Export From Nucleus Peptidyl-lysine Trimethylation Cell Differentiation Methylation Regulation Of Cytokinesis Positive Regulation Of Interferon-alpha Production Response To Type I Interferon Nucleosome Organization Endodermal Cell Differentiation Response To Alkaloid Innate Immune Response Positive Regulation Of Ossification Stem Cell Differentiation Defense Response To Virus Protein K48-linked Ubiquitination Microtubule Cytoskeleton Organization Involved In Mitosis Regulation Of Protein Localization To Chromatin
Pathways		None	PKMTs methylate histone lysines
Diseases		Non-syndromic X-linked mental retardation Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS) Early infantile epileptic encephalopathy; Ohtahara syndrome Lissencephaly (LIS); Miller-Dieker syndrome (MDLS)	None
GWAS		No GWAS studies recorded	Adult body size ( 32376654 ) Basophil count ( 32888494 ) Eosinophil count ( 32888494 ) Eosinophil percentage of white cells ( 32888494 ) Granulocyte percentage of myeloid white cells ( 27863252 ) HDL cholesterol ( 24097068 30275531 ) HDL cholesterol levels ( 28334899 ) Huntington's disease progression ( 28642124 ) Lymphocyte count ( 27863252 32888494 ) Lymphocyte percentage of white cells ( 27863252 32888494 ) Mean platelet volume ( 32888494 ) Medication use (HMG CoA reductase inhibitors) ( 31015401 ) Monocyte count ( 27863252 ) Monocyte percentage of white cells ( 32888494 27863252 ) Neutrophil count ( 32888494 ) Neutrophil percentage of white cells ( 32888494 ) Platelet distribution width ( 32888494 27863252 ) Post bronchodilator FEV1/FVC ratio ( 26634245 ) Refractive error ( 32231278 ) Waist-to-hip ratio adjusted for BMI (additive genetic model) ( 30778226 ) White blood cell count ( 27863252 32888494 ) White blood cell count (basophil) ( 27863252 )
Novel Interactors		None recorded	6 novel interactors: EXOSC7 GMPPB KLHL18 NDUFAF3 TEX264 TMA7
Interacting Genes		8 interacting genes: ACTN2 CYTIP DNM2 IPO13 NELL2 PKM SETD2 TLE5	10 interacting genes: ARX ATXN1 CIC H3-4 H3C1 HTT SHANK3 SIAH2 SMAD3 SPOP
Entrez ID		170302	29072
HPRD ID		02307	11043
Ensembl ID		ENSG00000004848	ENSG00000181555
Uniprot IDs		Q96QS3	A0A1W2PPX9 Q9BYW2
PDB IDs		Not available	2A7O 2MDC 2MDI 2MDJ 4FMU 4H12 5JJY 5JLB 5JLE 5LSS 5LSX 5LSY 5LSZ 5LT6 5LT7 5LT8 5V21 5V22 6J9J 6VDB 7EA8 7EVR 7EVS 7LZB 7LZD 7LZF 7TY2 7TY3 8Q5P 8RZU 9EGZ 9EH0 9EH1 9EH2
GO Terms Enriched among Interactors		None	Vocal Learning Learning Social Behavior Observational Learning Auditory Behavior Learning Or Memory Mechanosensory Behavior Cognition Memory Proteasome-mediated Ubiquitin-dependent Protein Catabolic Process Negative Regulation Of Lung Blood Pressure Nuclear Mineralocorticoid Receptor Binding Chromatin Binding Proteasomal Protein Catabolic Process Lung Alveolus Development