PAX6

Description		paired box 6
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GO Annotations	Cellular Component	Nuclear Chromatin Cell Nucleus Nucleoplasm Cytoplasm Cytosol
	Molecular Function	RNA Polymerase II Proximal Promoter Sequence-specific DNA Binding RNA Polymerase II Core Promoter 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 RNA Binding Protein Binding Transcription Factor Binding Protein Kinase Binding Ubiquitin Protein Ligase Binding Histone Acetyltransferase Binding Co-SMAD Binding R-SMAD Binding HMG Box Domain Binding
	Biological Process	Negative Regulation Of Transcription By RNA Polymerase II Establishment Of Mitotic Spindle Orientation Blood Vessel Development Eye Development Cell Fate Determination Neuron Migration Negative Regulation Of Protein Phosphorylation Positive Regulation Of Neuroblast Proliferation Lens Development In Camera-type Eye Type B Pancreatic Cell Differentiation Pancreatic A Cell Development Transcription By RNA Polymerase II Smoothened Signaling Pathway Axon Guidance Central Nervous System Development Salivary Gland Morphogenesis Visual Perception Response To Wounding Regulation Of Asymmetric Cell Division Animal Organ Morphogenesis Dorsal/ventral Axis Specification Positive Regulation Of Gene Expression Oligodendrocyte Cell Fate Specification Cerebral Cortex Regionalization Forebrain Dorsal/ventral Pattern Formation Commitment Of Neuronal Cell To Specific Neuron Type In Forebrain Forebrain-midbrain Boundary Formation Regulation Of Transcription From RNA Polymerase II Promoter Involved In Spinal Cord Motor Neuron Fate Specification Regulation Of Transcription From RNA Polymerase II Promoter Involved In Ventral Spinal Cord Interneuron Specification Regulation Of Transcription From RNA Polymerase II Promoter Involved In Somatic Motor Neuron Fate Commitment Pituitary Gland Development Habenula Development Signal Transduction Involved In Regulation Of Gene Expression Keratinocyte Differentiation Regulation Of Cell Migration Positive Regulation Of Epithelial Cell Differentiation Lacrimal Gland Development Protein Localization To Organelle Eye Photoreceptor Cell Development Glucose Homeostasis Negative Regulation Of Neuron Differentiation Positive Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription By RNA Polymerase II Regulation Of Timing Of Cell Differentiation Embryonic Camera-type Eye Morphogenesis Neuron Fate Commitment Astrocyte Differentiation Negative Regulation Of Epithelial Cell Proliferation Negative Regulation Of Neurogenesis Retina Development In Camera-type Eye Iris Morphogenesis Cornea Development In Camera-type Eye Positive Regulation Of Core Promoter Binding Cellular Response To Leukemia Inhibitory Factor Negative Regulation Of Neural Precursor Cell Proliferation
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
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) Systolic blood pressure ( 27841878)
Interacting Genes		32 interacting genes: CDX2 DIAPH1 DLG1 DYNLL1 EN1 EP300 HIPK2 HOMER3 HOXB1 IPO13 LHX2 MAFG MID1 MITF NKIRAS2 PATJ PBX1 PKNOX1 PROX1 RAX RB1 RGS3 SHANK3 SIX3 SMARCA4 SOX10 SOX3 SUMO1 TBP TRIM11 UBE3A VSX2
Entrez ID		5080
HPRD ID		06167
Ensembl ID		ENSG00000007372
Uniprot IDs		A0A1W2PRA8 D1KF47 F1T0F8 P26367 Q66SS1
PDB IDs		2CUE 6PAX
Enriched GO Terms of Interacting Partners?
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