BBS5 and PRDM2

		BBS5	PRDM2
Description		Bardet-Biedl syndrome 5	PR/SET domain 2
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GO Annotations	Cellular Component	Cytoplasm Cytosol Cytoskeleton Plasma Membrane Cilium Axoneme Membrane Centriolar Satellite BBSome Ciliary Basal Body Cell Projection Ciliary Membrane	Nucleus Nucleoplasm Golgi Apparatus
	Molecular Function	Protein Binding Phosphatidylinositol-3-phosphate Binding RNA Polymerase II-specific DNA-binding Transcription Factor Binding	RNA Polymerase II Transcription 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 DNA-binding Transcription Factor Activity Protein Binding Methyltransferase Activity Zinc Ion Binding Transferase Activity Histone Methyltransferase Activity Sequence-specific DNA Binding Metal Ion Binding Histone H3K9 Trimethyltransferase Activity
	Biological Process	Heart Looping Visual Perception Protein Transport Cell Projection Organization Melanosome Transport Motile Cilium Assembly Intracellular Transport Cilium Assembly	Negative Regulation Of Transcription By RNA Polymerase II Chromatin Remodeling Regulation Of DNA-templated Transcription Regulation Of Transcription By RNA Polymerase II Determination Of Adult Lifespan Methylation Positive Regulation Of Transcription By RNA Polymerase II
Pathways		BBSome-mediated cargo-targeting to cilium
Drugs
Diseases		Bardet-Biedl syndrome (BBS)
GWAS		Iris heterochromicity ( 30895295)	Anti-drug antibodies in autoimmune disease (time to event) ( 33125391) Cerebral amyloid deposition in APOEe4 non-carriers (PET imaging) ( 26252872) Chronotype ( 30696823) Copper levels ( 26025379) HDL cholesterol levels in HIV infection ( 33109212) Intracranial aneurysm ( 30823506) Left ventricular function change in anthracycline treatment ( 28542097) Logical memory (delayed recall) in Alzheimer's disease dementia ( 29274321) Parkinson's disease ( 26227905) Polycystic ovary syndrome (reproductive subtype) ( 32574161) Refractive error ( 32231278) Schizophrenia x sex interaction ( 34099189)
Interacting Genes		4 interacting genes: CRADD KLC3 TOM1 TOM1L2	6 interacting genes: E2F1 ESR1 H3-4 H3C1 MDM2 RB1
Entrez ID		129880	7799
HPRD ID		10353	03120
Ensembl ID		ENSG00000163093	ENSG00000116731
Uniprot IDs		A0A0S2Z626 Q8N3I7	Q13029
PDB IDs		6XTB	2JV0 2QPW
Enriched GO Terms of Interacting Partners?			Rb-E2F Complex Cellular Response To Estrogen Stimulus Anatomical Structure Morphogenesis Regulation Of Cell Cycle G1/S Phase Transition Regulation Of G1/S Transition Of Mitotic Cell Cycle Protein-DNA Complex Assembly Disordered Domain Specific Binding Positive Regulation Of Extracellular Matrix Organization Transcription Regulator Complex Regulation Of Glial Cell Proliferation Chromatin Remodeling Protein-containing Complex Assembly Epithelial Cell Apoptotic Process Regulation Of DNA Binding Response To Xenobiotic Stimulus Regulation Of Programmed Cell Death Regulation Of Apoptotic Process Positive Regulation Of Fibroblast Proliferation Cellular Response To Xenobiotic Stimulus Protein-containing Complex Regulation Of Mitotic Cell Cycle Phase Transition Regulation Of Cell Differentiation Regulation Of Developmental Process Regulation Of Epithelial Cell Apoptotic Process Protein-containing Complex Organization Response To Estrogen Cellular Component Assembly Chromatin Organization Cellular Response To Hormone Stimulus Response To Formaldehyde Cellular Response To Vitamin B1 Heart Valve Morphogenesis Regulation Of Extracellular Matrix Organization Cellular Response To Oxygen-containing Compound Positive Regulation Of Cell Differentiation Negative Regulation Of Apoptotic Process Regulation Of Cell Population Proliferation Negative Regulation Of Programmed Cell Death Structural Constituent Of Chromatin Negative Regulation Of Transcription By RNA Polymerase II Regulation Of Fibroblast Proliferation Enzyme Binding Tissue Morphogenesis Regulation Of Myofibroblast Contraction Intracellular Signal Transduction Positive Regulation Of Mitotic Cell Cycle Phase Transition DNA-templated Transcription Regulation Of Mitotic Cell Cycle Regulation Of Gliogenesis Signal Transduction By P53 Class Mediator
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