BBS4

Description		Bardet-Biedl syndrome 4
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GO Annotations	Cellular Component	Pericentriolar Material Nucleus Centrosome Centriole Cytosol Cilium Motile Cilium Centriolar Satellite BBSome Ciliary Transition Zone Ciliary Basal Body Ciliary Membrane Non-motile Cilium
	Molecular Function	RNA Polymerase II Repressing Transcription Factor Binding Protein Binding Protein-macromolecule Adaptor Activity Dynactin Binding Alpha-tubulin Binding Beta-tubulin Binding
	Biological Process	Microtubule Cytoskeleton Organization Mitotic Cytokinesis Neural Tube Closure Retina Homeostasis Heart Looping Centrosome Cycle Spermatid Development Visual Perception Sensory Perception Of Smell Protein Transport Dendrite Development Regulation Of Lipid Metabolic Process Striatum Development Hippocampus Development Cerebral Cortex Development Adult Behavior Melanosome Transport Regulation Of Cytokinesis Protein Localization To Organelle Microtubule Anchoring At Centrosome Negative Regulation Of Appetite By Leptin-mediated Signaling Pathway Fat Cell Differentiation Photoreceptor Cell Maintenance Positive Regulation Of Cilium Assembly Retinal Rod Cell Development Intracellular Transport Brain Morphogenesis Sensory Processing Maintenance Of Protein Location In Nucleus Cilium Assembly Regulation Of Cilium Beat Frequency Involved In Ciliary Motility Protein Localization To Cilium Protein Localization To Centrosome Non-motile Cilium Assembly
Pathways		BBSome-mediated cargo-targeting to cilium
Drugs
Diseases		Bardet-Biedl syndrome (BBS)
GWAS		Body mass index ( 29273807 28448500) Body mass index (joint analysis main effects and physical activity interaction) ( 28448500) Body mass index in physically active individuals ( 28448500) Theory of mind score in adolescence (Emotional Triangles Task) ( 29472613) Triglycerides ( 30275531) Waist-to-hip ratio adjusted for BMI ( 26426971) Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) ( 26426971)
Novel Interacting Genes		5 novel interacting genes: AAGAB ANP32A IGDCC3 MRPL28 SEMA7A
Interacting Genes		21 interacting genes: ACTB BHMT C2CD6 CALCA DCTN1 EEF1A1 EIF3A EPAS1 EXOC7 FHOD1 HSCB KRT18 MYOG OAS1 PAX2 PCM1 RARA RARG REL SPIRE1 ZIC1
Entrez ID		585
HPRD ID		08982
Ensembl ID		ENSG00000140463
Uniprot IDs		A0A0S2Z3A9 Q96RK4
PDB IDs		6XT9
Enriched GO Terms of Interacting Partners?
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