BBS2

Description		Bardet-Biedl syndrome 2
Image		No pdb structure
GO Annotations	Cellular Component	Cytoplasm Cytosol Cytoskeleton Plasma Membrane Microvillus Cilium Membrane Motile Cilium Stereocilium Centriolar Satellite BBSome Ciliary Basal Body Cell Projection Neuron Projection Ciliary Membrane
	Molecular Function	Protein Binding RNA Polymerase II-specific DNA-binding Transcription Factor Binding
	Biological Process	Sperm Axoneme Assembly Visual Perception Intracellular Protein Localization Gene Expression Negative Regulation Of Gene Expression Artery Smooth Muscle Contraction Protein Transport Striatum Development Hippocampus Development Cerebral Cortex Development Cell Projection Organization Adult Behavior Melanosome Transport Leptin-mediated Signaling Pathway Protein Localization To Organelle Negative Regulation Of Appetite By Leptin-mediated Signaling Pathway Negative Regulation Of Multicellular Organism Growth Positive Regulation Of Multicellular Organism Growth Vasodilation Golgi To Plasma Membrane Protein Transport Response To Leptin Fat Cell Differentiation Photoreceptor Cell Maintenance Brain Morphogenesis Cartilage Development Cilium Assembly Regulation Of Cilium Beat Frequency Involved In Ciliary Motility Non-motile Cilium Assembly
Pathways		BBSome-mediated cargo-targeting to cilium
Drugs
Diseases		Bardet-Biedl syndrome (BBS)
GWAS
Novel Interacting Genes		27 novel interacting genes: APOC2 BHMT CES1 CETP CNOT1 EEF1A1 EPAS1 EXOC7 FHOD1 FNDC3B GOT2 HNRNPF HSCB HSF4 KCNK17 KRT18 LMO4 MAP2K5 MDFI NRF1 PAX2 PJA2 PSME3 RBPMS SPTSSA UBC WRNIP1
Interacting Genes		27 interacting genes: APOC2 BHMT CES1 CETP CNOT1 EEF1A1 EPAS1 EXOC7 FHOD1 FNDC3B GOT2 HNRNPF HSCB HSF4 KCNK17 KRT18 LMO4 MAP2K5 MDFI NRF1 PAX2 PJA2 PSME3 RBPMS SPTSSA UBC WRNIP1
Entrez ID		583
HPRD ID		05855
Ensembl ID		ENSG00000125124
Uniprot IDs		A0A804HIE1 A0A804HKG1 Q9BXC9
PDB IDs
Enriched GO Terms of Interacting Partners?		Reverse Cholesterol Transport Very-low-density Lipoprotein Particle Remodeling Centriolar Satellite Cholesterol Transport Triglyceride-rich Lipoprotein Particle Remodeling Regulation Of Cholesterol Transport Regulation Of Primary Metabolic Process Sterol Transport Sterol Homeostasis Cholesterol Homeostasis Microtubule Organizing Center
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