BBS2 and EPAS1

Data Source:
BioGRID (two hybrid)

		BBS2	EPAS1
Description		Bardet-Biedl syndrome 2	endothelial PAS domain protein 1
Image		No pdb structure
GO Annotations	Cellular Component	Cytosol Microvillus Membrane Motile Cilium Stereocilium BBSome Ciliary Basal Body Neuron Projection Ciliary Membrane	Chromatin Nucleoplasm Transcription Regulator Complex Cytosol Nuclear Speck
	Molecular Function	RNA Polymerase II Repressing Transcription Factor Binding Protein 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 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
	Biological Process	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	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
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
Drugs			PT2977
Diseases		Bardet-Biedl syndrome (BBS)	Congenital polycythemia; Familial erythrocytosis (ECYT)
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		15 interacting genes: BHMT EEF1A1 EPAS1 EXOC7 FHOD1 FNDC3B HNRNPF HSCB KRT18 LMO4 MDFI NRF1 PAX2 PSME3 RBPMS	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
Entrez ID		583	2034
HPRD ID		05855	06787
Ensembl ID		ENSG00000125124	ENSG00000116016
Uniprot IDs		Q9BXC9	B3KW07 Q99814
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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