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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
8 novel interacting genes:
ANXA5
CNGA1
MAD2L1
MSH6
NDNF
PDE8B
QRFPR
TRPC3
Interacting Genes
4 interacting genes:
FHOD1
JUN
KRT18
PAX2
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
Tagcloud
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