BBS2

Name	Bardet-Biedl syndrome 2
Structure	No pdb structure
Novel Interactors	10 novel interactors: APOC2 CES1 CETP CNOT1 GOT2 HSF4 KCNK17 MAP2K5 SPTSSA WRNIP1
Interactors	17 interactors: BHMT EEF1A1 EPAS1 EXOC7 FHOD1 FNDC3B HNRNPF HSCB KRT18 LMO4 MDFI NRF1 PAX2 PJA2 PSME3 RBPMS UBC
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
Diseases	Bardet-Biedl syndrome (BBS)
GWAS	No GWAS studies recorded
Entrez ID	583
HPRD ID	05855
Ensembl ID	ENSG00000125124
Uniprot IDs	A0A804HIE1 A0A804HKG1 Q9BXC9
PDB IDs	Not available
GO Terms Enriched among Interactors ?	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