BBS4 and PAX2

Data Source:
BioGRID (two hybrid)

		BBS4	PAX2
Description		Bardet-Biedl syndrome 4	paired box 2
Image			No pdb structure
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	Chromatin Nucleus Nucleoplasm Lysosome Microtubule Organizing Center Protein-containing Complex Protein-DNA Complex Centriolar Satellite
	Molecular Function	RNA Polymerase II Repressing Transcription Factor Binding Protein Binding Protein-macromolecule Adaptor Activity Dynactin Binding Alpha-tubulin Binding Beta-tubulin Binding	Transcription Regulatory Region Sequence-specific DNA Binding RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific Cis-regulatory Region Sequence-specific DNA Binding DNA Binding DNA-binding Transcription Factor Activity Protein Binding Transcription Factor Binding Sequence-specific Double-stranded DNA 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	Urogenital System Development Branching Involved In Ureteric Bud Morphogenesis Cell Fate Determination Mesonephros Development Neural Tube Closure Optic Cup Morphogenesis Involved In Camera-type Eye Development Mesenchymal To Epithelial Transition Involved In Metanephros Morphogenesis Retinal Pigment Epithelium Development Regulation Of Transcription By RNA Polymerase II Axonogenesis Mesodermal Cell Fate Specification Aging Visual Perception Glial Cell Differentiation Optic Nerve Development Optic Nerve Morphogenesis Optic Nerve Structural Organization Vestibulocochlear Nerve Formation Response To Nutrient Levels Regulation Of Metanephros Size Ureter Maturation Pronephric Field Specification Inner Ear Morphogenesis Camera-type Eye Development Negative Regulation Of Apoptotic Process Negative Regulation Of Programmed Cell Death Negative Regulation Of Cysteine-type Endopeptidase Activity Involved In Apoptotic Process Protein Kinase B Signaling Negative Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription By RNA Polymerase II Pronephros Development Brain Morphogenesis Anatomical Structure Development Stem Cell Differentiation Positive Regulation Of Epithelial Cell Proliferation Mesenchymal To Epithelial Transition Optic Chiasma Development Cellular Response To Hydrogen Peroxide Cellular Response To Retinoic Acid Cellular Response To Glucose Stimulus Cellular Response To Epidermal Growth Factor Stimulus Metanephric Mesenchyme Development Positive Regulation Of Mesenchymal To Epithelial Transition Involved In Metanephros Morphogenesis Metanephric Mesenchymal Cell Differentiation Nephric Duct Formation Ureter Development Metanephric Collecting Duct Development Metanephric Epithelium Development Metanephric Distal Convoluted Tubule Development Metanephric Nephron Tubule Formation Positive Regulation Of Metanephric Glomerulus Development Negative Regulation Of Mesenchymal Cell Apoptotic Process Involved In Metanephric Nephron Morphogenesis Regulation Of Metanephric Nephron Tubule Epithelial Cell Differentiation Reactive Oxygen Species Metabolic Process Cochlea Development Cochlea Morphogenesis Positive Regulation Of Branching Involved In Ureteric Bud Morphogenesis Negative Regulation Of Mesenchymal Cell Apoptotic Process Involved In Metanephros Development Negative Regulation Of Apoptotic Process Involved In Metanephric Collecting Duct Development Negative Regulation Of Apoptotic Process Involved In Metanephric Nephron Tubule Development Negative Regulation Of Reactive Oxygen Species Metabolic Process Positive Regulation Of Metanephric DCT Cell Differentiation Positive Regulation Of Optic Nerve Formation
Pathways		BBSome-mediated cargo-targeting to cilium
Drugs
Diseases		Bardet-Biedl syndrome (BBS)	Renal coloboma syndrome (RCS); Papillorenal syndrome
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)	Adult body size ( 32376654) Alcohol consumption (drinks per week) ( 30679032) Alzheimer's disease ( 20061627) Bitter alcoholic beverage consumption ( 31046077) BMI (adjusted for smoking behaviour) ( 28443625) Body mass index ( 28892062) Body mass index (joint analysis main effects and smoking interaction) ( 28443625) Body size at age 10 ( 32376654) Cerebrospinal fluid t-tau:AB1-42 ratio ( 30153862) Diastolic blood pressure ( 27841878) Heart rate increase in response to exercise ( 29497042) Heart rate response to exercise ( 29769521) Heart rate response to recovery post exercise ( 29769521) Heart rate response to recovery post exercise (10 sec) ( 29497042) Heart rate response to recovery post exercise (20 sec) ( 29497042) Heart rate response to recovery post exercise (30 sec) ( 29497042) Heart rate response to recovery post exercise (40 sec) ( 29497042) Heart rate response to recovery post exercise (50 sec) ( 29497042) Refractive error ( 32231278) Regular attendance at a pub or social club ( 29970889) Systolic blood pressure ( 28135244 27841878 30578418)
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	24 interacting genes: BBS1 BBS2 BBS4 BBS7 BEX1 BLID GLCE ID2 IL13RA2 KLK6 KLK9 MAPK8 MAPK8IP1 MRC2 NSD3 PAXIP1 PRDM14 RASL10B RB1 SFRP2 SNAI1 TRIM25 VPS45 WT1
Entrez ID		585	5076
HPRD ID		08982	01330
Ensembl ID		ENSG00000140463	ENSG00000075891
Uniprot IDs		A0A0S2Z3A9 Q96RK4	Q02962
PDB IDs		6XT9
Enriched GO Terms of Interacting Partners?
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