BBS2 and EPAS1

Number of citations: 0 (PubMedID 18000879)
Data Source: BioGRID (two hybrid)

		BBS2	EPAS1
Name		Bardet-Biedl syndrome 2	endothelial PAS domain protein 1
Structure		No pdb structure
GO Annotations	Cellular Component	Cytoplasm Cytosol Cytoskeleton Plasma Membrane Microvillus Cilium Membrane Motile Cilium Stereocilium Centriolar Satellite BBSome Ciliary Basal Body Cell Projection Neuron Projection Ciliary Membrane	Chromatin Nucleus Nucleoplasm Transcription Regulator Complex Cytoplasm Cytosol Nuclear Speck
	Molecular Function	Protein Binding RNA Polymerase II-specific DNA-binding Transcription Factor Binding	RNA Polymerase II 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 Transcription Coactivator Binding DNA-binding Transcription Activator Activity, RNA Polymerase II-specific DNA Binding DNA-binding Transcription Factor Activity Protein Binding Sequence-specific DNA Binding Protein Heterodimerization Activity Protein Dimerization Activity RNA Polymerase II-specific DNA-binding Transcription Factor Binding
	Biological Process	Sperm Axoneme Assembly Visual Perception Intracellular Protein Localization Gene Expression Negative Regulation Of Gene Expression Artery Smooth Muscle Contraction Protein Transport Striatum Development Hippocampus Development Cerebral Cortex Development Cell Projection Organization Adult Behavior Melanosome Transport Leptin-mediated Signaling Pathway Protein Localization To Organelle Negative Regulation Of Appetite By Leptin-mediated Signaling Pathway Negative Regulation Of Multicellular Organism Growth Positive Regulation Of Multicellular Organism Growth Vasodilation Golgi To Plasma Membrane Protein Transport Response To Leptin Fat Cell Differentiation Photoreceptor Cell Maintenance Brain Morphogenesis Cartilage Development Cilium Assembly Regulation Of Cilium Beat Frequency Involved In Ciliary Motility Non-motile Cilium Assembly	Angiogenesis Response To Hypoxia Embryonic Placenta Development Blood Vessel Remodeling Regulation Of Heart Rate Epithelial Cell Maturation Regulation Of DNA-templated Transcription Regulation Of Transcription By RNA Polymerase II Transcription By RNA Polymerase II Response To Oxidative Stress Mitochondrion Organization Signal Transduction Visual Perception Gene Expression Hemopoiesis Cell Differentiation Erythrocyte Differentiation Lung Development Intracellular Oxygen Homeostasis Norepinephrine Metabolic Process MRNA Transcription By RNA Polymerase II Surfactant Homeostasis Positive Regulation Of Transcription By RNA Polymerase II Myoblast Fate Commitment Multicellular Organismal-level Iron Ion Homeostasis Cellular Response To Hypoxia Positive Regulation Of Cold-induced Thermogenesis Regulation Of Protein Neddylation
Pathways		BBSome-mediated cargo-targeting to cilium	Regulation of gene expression by Hypoxia-inducible Factor Cellular response to hypoxia Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha Transcriptional regulation of pluripotent stem cells PTK6 Expression Neddylation Pexophagy Regulation of PD-L1(CD274) transcription
Drugs		None	Vadadustat Belzutifan
Diseases		Bardet-Biedl syndrome (BBS)	Congenital polycythemia; Familial erythrocytosis (ECYT)
GWAS		No GWAS studies recorded	Appendicular lean mass ( 33097823 ) Birth weight ( 27680694 31043758 ) Cerebral amyloid deposition in APOEe4 non-carriers (PET imaging) ( 26252872 ) Craniofacial microsomia ( 26853712 ) Diisocyanate-induced asthma ( 25918132 ) Electrocardiogram morphology (amplitude at temporal datapoints) ( 32916098 ) Facial morphology ( 29921221 ) Hematocrit ( 32888494 ) Hemoglobin ( 32888494 ) Hemoglobin levels ( 30188897 ) High altitude adaptation ( 28373541 ) Offspring birth weight ( 31043758 ) Oxygenated hemoglobin levels ( 30188897 ) P wave duration ( 28794112 ) Peak velocity of the mitral A-wave ( 28394258 ) PR interval ( 32439900 ) Refractive error ( 32231278 ) Renal cell carcinoma ( 21131975 31231134 25826619 )
Novel Interactors		10 novel interactors: APOC2 CES1 CETP CNOT1 GOT2 HSF4 KCNK17 MAP2K5 SPTSSA WRNIP1	None recorded
Interacting Genes		17 interacting genes: BHMT EEF1A1 EPAS1 EXOC7 FHOD1 FNDC3B HNRNPF HSCB KRT18 LMO4 MDFI NRF1 PAX2 PJA2 PSME3 RBPMS UBC	41 interacting genes: APC ARNT ARNT2 BATF BATF2 BATF3 BBS1 BBS2 BBS4 BMAL1 BMAL2 CHD4 DBP DDIT3 EGLN1 EGLN2 EGLN3 EIF3E EP300 ESR1 ETV4 EWSR1 F12 JUN KLHL20 KPNA1 KPNA3 KPNA5 KPNA6 KPNB1 MAX MEF2C NDN PRKD1 SMAD3 SPP1 STAT5A TERF2IP UBE3B USP20 VHL
Entrez ID		583	2034
HPRD ID		05855	06787
Ensembl ID		ENSG00000125124	ENSG00000116016
Uniprot IDs		A0A804HIE1 A0A804HKG1 Q9BXC9	B3KW07 Q99814
PDB IDs		Not available	1P97 2A24 3F1N 3F1O 3F1P 3H7W 3H82 4GHI 4GS9 4PKY 4XT2 5KIZ 5TBM 5UFP 6BVB 6CZW 6D09 6D0B 6D0C 6I7Q 6I7R 6X21 6X28 6X2H 6X37 6X3D 7Q5V 7Q5X 7UJV 8CK3 8CK4 8CK8 8Q5S 8Q64 8Q6D 8Q6E 8RUT 8RUV 8RUZ 8RV1
GO Terms Enriched among Interactors		Reverse Cholesterol Transport Very-low-density Lipoprotein Particle Remodeling Centriolar Satellite Cholesterol Transport Triglyceride-rich Lipoprotein Particle Remodeling Regulation Of Cholesterol Transport Regulation Of Primary Metabolic Process Sterol Transport Sterol Homeostasis Cholesterol Homeostasis Microtubule Organizing Center	Positive Regulation Of RNA Biosynthetic Process Positive Regulation Of DNA-templated Transcription Positive Regulation Of Nucleobase-containing Compound Metabolic Process Chromatin DNA-binding Transcription Factor Activity Positive Regulation Of RNA Metabolic Process RNA Polymerase II Transcription Regulator Complex Positive Regulation Of Macromolecule Metabolic Process Positive Regulation Of Metabolic Process Regulation Of Primary Metabolic Process Positive Regulation Of Transcription By RNA Polymerase II NLS-dependent Protein Nuclear Import Complex Positive Regulation Of Macromolecule Biosynthetic Process Regulation Of Macromolecule Metabolic Process RNA Polymerase II-specific DNA-binding Transcription Factor Binding Regulation Of DNA-templated Transcription Regulation Of RNA Biosynthetic Process Regulation Of Metabolic Process Positive Regulation Of Biosynthetic Process Regulation Of Gene Expression Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of RNA Metabolic Process Nucleus RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding Regulation Of Macromolecule Biosynthetic Process Regulation Of Transcription By RNA Polymerase II Nucleoplasm Nuclear Import Signal Receptor Activity DNA-binding Transcription Factor Activity, RNA Polymerase II-specific Nuclear Localization Sequence Binding Aryl Hydrocarbon Receptor Complex NLS-bearing Protein Import Into Nucleus Transcription Regulator Complex DNA-binding Transcription Factor Binding Peptidyl-proline 4-dioxygenase Activity Integrated Stress Response Signaling Cellular Response To Stress Hypoxia-inducible Factor-proline Dioxygenase Activity DNA-binding Transcription Activator Activity, RNA Polymerase II-specific DNA Binding Sequence-specific Double-stranded DNA Binding Protein Localization To Organelle Response To Stress Response To Hypoxia BBSome Response To Decreased Oxygen Levels Aryl Hydrocarbon Receptor Binding Regulation Of Cilium Beat Frequency Involved In Ciliary Motility Response To Oxygen Levels Cytoplasm