PAX6 and SMARCA4

Data Source:
HPRD (in vivo)

		PAX6	SMARCA4
Description		paired box 6	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
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GO Annotations	Cellular Component	Chromatin Nucleus Nucleoplasm Cytoplasm Cytosol	Chromatin Extracellular Space Nucleus Nucleoplasm Nucleolus Membrane SWI/SNF Complex Protein-containing Complex NpBAF Complex NBAF Complex
	Molecular Function	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 DNA-binding Transcription Factor Activity Protein Binding Transcription Factor Binding Protein Kinase Binding Histone Acetyltransferase Binding R-SMAD Binding Sequence-specific Double-stranded DNA Binding	RNA Polymerase I Core Promoter Sequence-specific DNA Binding P53 Binding DNA Binding Transcription Coactivator Activity Transcription Corepressor Activity RNA Binding Helicase Activity Protein Binding ATP Binding DNA-dependent ATPase Activity Transcription Factor Binding Tat Protein Binding Nucleosomal DNA Binding Protein N-terminus Binding Androgen Receptor Binding DNA Polymerase Binding Lysine-acetylated Histone Binding
	Biological Process	Negative Regulation Of Transcription By RNA Polymerase II Blood Vessel Development Eye Development Pancreatic A Cell Development Regulation Of Transcription By RNA Polymerase II Central Nervous System Development Visual Perception Response To Wounding Animal Organ Morphogenesis Positive Regulation Of Gene Expression Ventral Spinal Cord Development Glucose Homeostasis Positive Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription By RNA Polymerase II Neuron Fate Commitment Anatomical Structure Development Negative Regulation Of Neurogenesis Iris Morphogenesis Cornea Development In Camera-type Eye Positive Regulation Of Core Promoter Binding	Negative Regulation Of Transcription By RNA Polymerase II RNA Polymerase I Preinitiation Complex Assembly Neural Retina Development Chromatin Organization Nucleosome Disassembly Chromatin Remodeling Regulation Of Transcription By RNA Polymerase II Nervous System Development Positive Regulation Of Wnt Signaling Pathway Negative Regulation Of Cell Growth Interleukin-7-mediated Signaling Pathway ATP-dependent Chromatin Remodeling Positive Regulation By Host Of Viral Transcription Negative Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription By RNA Polymerase II Positive Regulation Of DNA-binding Transcription Factor Activity Negative Regulation Of Androgen Receptor Signaling Pathway Positive Regulation Of Transcription Of Nucleolar Large RRNA By RNA Polymerase I Positive Regulation Of Glucose Mediated Signaling Pathway Positive Regulation Of Pri-miRNA Transcription By RNA Polymerase II Beta-catenin-TCF Complex Assembly
Pathways		Regulation of gene expression in beta cells Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) Activation of anterior HOX genes in hindbrain development during early embryogenesis	Interleukin-7 signaling Formation of the beta-catenin:TCF transactivating complex RMTs methylate histone arginines Chromatin modifying enzymes RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known EGR2 and SOX10-mediated initiation of Schwann cell myelination EGR2 and SOX10-mediated initiation of Schwann cell myelination
Drugs
Diseases		Aniridia Polymicrogyria; Bilateral frontal polymicrogyria (BFP); Bilateral frontoparietal polymicrogyria (BFPP); Bilateral perisylvian polymicrogyria (BPP); Bilateral parasagittal parieto-occipital polymicrogyria (BPOP); Bilateral generalised polymicrogyria (BGP); Unilateral Polymicrogyria (ULP) Ocular coloboma, including: Coloboma of iris choroid and retina (COI); Coloboma of optic nerve (COLON)
GWAS		anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) ( 31835028) Body mass index ( 22344219 28892062) Depression ( 29700475) Diastolic blood pressure ( 27841878) Feeling worry ( 29500382) General factor of neuroticism ( 30867560) Irritable mood ( 29500382) Major depressive disorder ( 27479909) Neurociticism ( 29500382) Optic disc area ( 28073927) Refractive error ( 32231278) Systolic blood pressure ( 27841878)	Adult body size ( 32376654) Apolipoprotein B levels ( 32203549) Coronary artery disease ( 32469254 24262325 30104761 33020668) Coronary artery disease or ischemic stroke ( 24262325) Coronary artery disease or large artery stroke ( 24262325) Disorders of lipid metabolism ( 30166351) HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) ( 30698716) Inflammatory skin disease ( 25574825) Ischemic stroke ( 29531354) LDL cholesterol ( 21347282) LDL cholesterol levels ( 32203549 30698716) LDL cholesterol levels in current drinkers ( 30698716) LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) ( 30698716) LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) ( 30698716) Low density lipoprotein cholesterol levels ( 31969989) Medication use (HMG CoA reductase inhibitors) ( 31015401) Multiple sclerosis ( 31604244) Response to statins (LDL cholesterol change) ( 31969989) Stroke ( 29531354)
Interacting Genes		126 interacting genes: ACOT12 AP1M1 ARIH2 ATP6V0D2 ATP6V1C2 BANP BCL2L15 C1orf109 C2CD6 CCDC103 CCDC6 CCL26 CDK3 CDX2 CGGBP1 CHAF1A CIB3 CINP CKS1B CSNK2A1 CTNNA3 CXorf38 DHPS DIAPH1 DLG1 DYNLL1 EAF1 EFHC1 EIF1AD EN1 EP300 ESRRG FAM50B GAS2L2 GCM2 GEMIN2 GPANK1 GRHL2 HGS HIPK2 HMBOX1 HMGB3 HNRNPC HOMER3 HOXA1 HOXB1 HOXC8 HOXC9 IPO13 KANK2 KCTD7 KRTAP9-3 KRTAP9-8 LARP4 LHX2 LNPK LONRF1 LXN LYSMD1 MAFG MAPRE1 MFAP1 MID1 MIPOL1 MISP MITF MORN3 MRPL53 NCDN NFKBID NFYC NGLY1 NKIRAS2 PATJ PBX1 PDE4C PICK1 PIN1 PKNOX1 POLR3C POLR3GL PPIL4 PRKAG1 PROX1 PSORS1C2 QRICH1 RANBP3 RAX RB1 RGS3 RNF111 SAE1 SEC14L4 SET SHANK3 SIGLEC6 SIX3 SLC12A8 SMARCA4 SOX10 SOX3 SPDYC SPG21 SRSF11 STAC SUMO1 TBP TCP11L1 THOC1 TLK1 TLK2 TRAPPC6A TRIM11 TRIP10 UBE2F UBE2K UBE3A UBXN2B UBXN7 USHBP1 VCX2 VSX2 WASHC3 ZBED1 ZNF124 ZNF410	80 interacting genes: ACTB ACTL6A AHR AR ARID1A ARID1B ARID2 BRCA1 BRWD1 CARM1 CBX5 CCNE1 CDK19 CDK8 CDKN2A CDX2 CEBPA CEBPB CHD4 CHFR CHMP5 CIITA CREB1 CTNNB1 E2F6 ESR1 ETS2 FANCA GATA1 GMNN H2AX H2BC21 H3-3A H3C1 H3C14 H4C6 HSF1 HSF4 HSPB1 IKZF1 KLF1 MBD3 MDM2 MED17 MED6 MPHOSPH6 MRTFA MYC MYOCD NR3C1 NR4A2 PABPN1 PALS2 PAX6 PBRM1 PHB PTEN RAP1A RASSF1 RB1 RBL1 RBL2 RELB RFXAP SIN3A SIN3B SMARCB1 SMARCC1 SMARCE1 SOX4 SS18 SS18L1 STAT2 STAT3 STK11 SUMO2 TAF15 TMF1 TP53 ZMYND11
Entrez ID		5080	6597
HPRD ID		06167	04459
Ensembl ID		ENSG00000007372	ENSG00000127616
Uniprot IDs		A0A1W2PRA8 D1KF47 F1T0F8 P26367 Q66SS1	A7E2E1 B3KNW7 P51532 Q9HBD4
PDB IDs		2CUE 6PAX	2GRC 2H60 3UVD 5DKD 5EA1 6BGH 6HR2 6LTH 6LTJ 6SY2 6ZS2
Enriched GO Terms of Interacting Partners?
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