BBS7

Description		Bardet-Biedl syndrome 7
Image		No pdb structure
GO Annotations	Cellular Component	Photoreceptor Outer Segment Nucleus Cytoplasm Centrosome Cytosol Cytoskeleton Plasma Membrane Cilium Axoneme Membrane 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	Eye Development Heart Looping Regulation Of Transcription By RNA Polymerase II Smoothened Signaling Pathway Determination Of Left/right Symmetry Brain Development Heart Development Visual Perception Intracellular Protein Localization Protein Transport Cell Projection Organization Melanosome Transport Positive Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Fat Cell Differentiation Intracellular Transport Digestive Tract Morphogenesis Pigment Granule Aggregation In Cell Center Limb Development Cilium Assembly Primary Palate Development Non-motile Cilium Assembly
Pathways		BBSome-mediated cargo-targeting to cilium
Drugs
Diseases		Bardet-Biedl syndrome (BBS)
GWAS		Asthma ( 31959851) Hip circumference adjusted for BMI ( 34021172) Psoriasis ( 31376382)
Novel Interacting Genes		12 novel interacting genes: ANXA5 CNGA1 FHOD1 JUN KRT18 MAD2L1 MSH6 NDNF PAX2 PDE8B QRFPR TRPC3
Interacting Genes		12 interacting genes: ANXA5 CNGA1 FHOD1 JUN KRT18 MAD2L1 MSH6 NDNF PAX2 PDE8B QRFPR TRPC3
Entrez ID		55212
HPRD ID		07399
Ensembl ID		ENSG00000138686
Uniprot IDs		Q8IWZ6
PDB IDs
Enriched GO Terms of Interacting Partners?		Establishment Of Centrosome Localization Negative Regulation Of Programmed Cell Death Endothelial Microparticle Signal Transduction Negative Regulation Of Apoptotic Process Meiotic Mismatch Repair Single Thymine Insertion Binding MutSalpha Complex Response To Light Stimulus Leading Edge Cell Differentiation Mitotic Spindle Assembly Checkpoint MAD1-MAD2 Complex Centrosome Localization Negative Regulation Of Mesenchymal Cell Apoptotic Process Involved In Metanephric Nephron Morphogenesis Pronephric Field Specification Negative Regulation Of Apoptotic Process Involved In Metanephric Nephron Tubule Development Optic Chiasma Development Positive Regulation Of Optic Nerve Formation Regulation Of Metanephros Size Optic Nerve Structural Organization Negative Regulation Of Apoptotic Process Involved In Metanephric Collecting Duct Development Positive Regulation Of Metanephric DCT Cell Differentiation Optic Cup Morphogenesis Involved In Camera-type Eye Development Calcium Channel Activity Regulation Of Programmed Cell Death Regulation Of Apoptotic Process Guanine/thymine Mispair Binding Single Guanine Insertion Binding Response To Anisomycin Cellular Response To Anisomycin Microtubule Organizing Center Mitotic Checkpoint Complex Vestibulocochlear Nerve Formation Negative Regulation Of Mesenchymal Cell Apoptotic Process Involved In Nephron Morphogenesis Metanephric Nephron Tubule Formation Metanephric Distal Convoluted Tubule Development Nephric Duct Formation Positive Regulation Of Metanephric Glomerulus Development Negative Regulation Of Mesenchymal Cell Apoptotic Process Involved In Metanephros Development Ureter Maturation Positive Regulation Of Mesenchymal To Epithelial Transition Involved In Metanephros Morphogenesis Operant Conditioning Intracellular Cyclic Nucleotide Activated Cation Channel Complex Intracellularly Cyclic Nucleotide-activated Monoatomic Cation Channel Activity Intracellularly CGMP-activated Cation Channel Activity Double-stranded DNA Binding Response To Radiation Release From Viral Latency Transcription Factor AP-1 Complex Response To Calcium Ion Centriolar Satellite
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