EPAS1 and BBS2

Data Source:
BioGRID (two hybrid)

		EPAS1	BBS2
Description		endothelial PAS domain protein 1	Bardet-Biedl syndrome 2
Image			No pdb structure
GO Annotations	Cellular Component	Chromatin Nucleoplasm Transcription Regulator Complex Cytosol Nuclear Speck	Cytosol Microvillus Membrane Motile Cilium Stereocilium BBSome Ciliary Basal Body Neuron Projection Ciliary Membrane
	Molecular Function	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 DNA-binding Transcription Activator Activity, RNA Polymerase II-specific DNA Binding Protein Binding Transcription Factor Binding Histone Acetyltransferase Binding Sequence-specific DNA Binding Protein Heterodimerization Activity	RNA Polymerase II Repressing Transcription Factor Binding Protein Binding
	Biological Process	Angiogenesis Response To Hypoxia Embryonic Placenta Development Blood Vessel Remodeling Regulation Of Heart Rate Regulation Of Transcription By RNA Polymerase II Mitochondrion Organization Signal Transduction Visual Perception Protein Ubiquitination Erythrocyte Differentiation Lung Development Norepinephrine Metabolic Process Surfactant Homeostasis Regulation Of Transcription From RNA Polymerase II Promoter In Response To Oxidative Stress Post-translational Protein Modification Positive Regulation Of Transcription By RNA Polymerase II Cell Maturation Myoblast Fate Commitment Iron Ion Homeostasis Regulation Of Transcription From RNA Polymerase II Promoter In Response To Hypoxia Cellular Response To Hypoxia Positive Regulation Of Cold-induced Thermogenesis Regulation Of Protein Neddylation	Sperm Axoneme Assembly Visual Perception Protein Localization Negative Regulation Of Gene Expression Artery Smooth Muscle Contraction Striatum Development Hippocampus Development Cerebral Cortex Development Adult Behavior Melanosome Transport 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 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
Pathways		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	BBSome-mediated cargo-targeting to cilium
Drugs		PT2977
Diseases		Congenital polycythemia; Familial erythrocytosis (ECYT)	Bardet-Biedl syndrome (BBS)
GWAS		Birth weight ( 31043758 27680694) 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 ( 25826619 31231134 21131975)
Interacting Genes		40 interacting genes: APC ARNT ARNT2 ARNTL ARNTL2 BATF BATF2 BATF3 BBS1 BBS2 BBS4 DBP DDIT3 EGLN1 EGLN2 EGLN3 EIF3E EP300 ESR1 ETV4 EWSR1 F12 HSP90AA1 JUN KLHL20 KPNA1 KPNA3 KPNA5 KPNA6 KPNB1 MAX MEF2C NDN PRKD1 SMAD3 SPP1 STAT5A TERF2IP USP20 VHL	15 interacting genes: BHMT EEF1A1 EPAS1 EXOC7 FHOD1 FNDC3B HNRNPF HSCB KRT18 LMO4 MDFI NRF1 PAX2 PSME3 RBPMS
Entrez ID		2034	583
HPRD ID		06787	05855
Ensembl ID		ENSG00000116016	ENSG00000125124
Uniprot IDs		B3KW07 Q99814	Q9BXC9
PDB IDs		1P97 2A24 3F1N 3F1O 3F1P 3H7W 3H82 4GHI 4GS9 4PKY 4XT2 5KIZ 5TBM 5UFP 6BVB 6CZW 6D09 6D0B 6D0C 6I7Q 6I7R
Enriched GO Terms of Interacting Partners?
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