BBS9

Description		Bardet-Biedl syndrome 9
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GO Annotations	Cellular Component	Pericentriolar Material Nucleoplasm Cytoplasm Centrosome Cytosol Cytoskeleton Plasma Membrane Cilium Membrane Centriolar Satellite BBSome Ciliary Transition Zone Ciliary Basal Body Cell Projection Ciliary Membrane
	Molecular Function	Molecular_function Protein Binding
	Biological Process	Visual Perception Protein Transport Cell Projection Organization Fat Cell Differentiation Cilium Assembly Protein Localization To Cilium
Pathways		BBSome-mediated cargo-targeting to cilium
Drugs
Diseases		Bardet-Biedl syndrome (BBS)
GWAS		Acute kidney injury in coronary artery bypass surgery (creatinine rise) ( 26083657) Asthma ( 29273806) Body size at age 10 ( 32376654) Brain morphology (MOSTest) ( 32665545) Disease progression in age-related macular degeneration ( 29346644) Intraocular pressure ( 29785010 31959993) Left–right brain asymmetry ( 33723403) Leprosy ( 27976721) Lung function in never smokers (low FEV1 vs high FEV1) ( 26423011) Metopic nonsyndromic craniosynostosis ( 32266521) Postoperative stroke after cardiac surgery ( 30678657) Sagittal craniosynostosis ( 23160099) Smooth-surface caries ( 24556642) Subcortical volume (MOSTest) ( 32665545) Subjective response to placebo treatment in childhood asthma (change in cough/wheeze) ( 31557306)
Novel Interacting Genes		6 novel interacting genes: CAPN1 CD33 EHMT2 FGF2 NME8 TRGV9
Interacting Genes		2 interacting genes: TOM1 TOM1L2
Entrez ID		27241
HPRD ID		16262
Ensembl ID		ENSG00000122507
Uniprot IDs		A0A090N7W2 A0A090N8P4 A0A5F9ZGY2 A0A5F9ZH14 A0A5F9ZH74 A0A5F9ZHE7 Q3SYG4
PDB IDs		4YD8 6XT9
Enriched GO Terms of Interacting Partners?		Regulation Of Macroautophagy Clathrin Binding Regulation Of Autophagy Negative Regulation Of Monocyte Activation Specific Granule Membrane Growth Factor Dependent Regulation Of Skeletal Muscle Satellite Cell Proliferation Response To Wortmannin Positive Regulation Of Inner Ear Receptor Cell Differentiation Positive Regulation Of Endothelial Cell Chemotaxis To Fibroblast Growth Factor Angiogenesis Involved In Coronary Vascular Morphogenesis Regulation Of Retinal Cell Programmed Cell Death Lymphatic Endothelial Cell Migration Positive Regulation Of Cell Fate Specification Positive Regulation Of Lens Fiber Cell Differentiation Positive Regulation Of Inner Ear Auditory Receptor Cell Differentiation Corticotropin Hormone Secreting Cell Differentiation Ubiquitin Binding Myosin VI Binding Phosphatidylinositol Binding Phenotypic Switching Histone H3K56 Methyltransferase Activity Sperm Cytoplasmic Droplet Calpain Complex Protein Tyrosine Phosphatase Activator Activity Receptor-receptor Interaction Mammary Gland Involution Adult Behavior Chondroblast Differentiation Positive Regulation Of Cerebellar Granule Cell Precursor Proliferation Regulation Of Endosome Organization Peptidyl-lysine Dimethylation
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