BBS2 - New-wiki

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	APOC2	apolipoprotein C2	Chylomicron assembly Assembly of active LPL and LIPC lipase complexes Chylomicron remodeling HDL remodeling NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux Retinoid metabolism and transport Retinoid metabolism and transport	Copper	Hyperlipoproteinemia, type I
Novel	CES1	carboxylesterase 1	Metabolism of Angiotensinogen to Angiotensins Phase I - Functionalization of compounds Physiological factors Aspirin ADME	Tacrine Meperidine Levocarnitine Dextropropoxyphene Cocaine Naloxone Diamorphine Probucol Hydroxy-Phenyl-Acetic Acid 8-Methyl-8-Aza-Bicyclo[3.2.1]Oct-3-Yl Ester Cholic Acid 4-Piperidino-Piperidine N-acetyl-alpha-neuraminic acid Thenoyltrifluoroacetone Cyclandelate Avasimibe (1R)-1,2,2-trimethylpropyl (R)-methylphosphinate (1S,7S,8S,8AR)-1,2,3,7,8,8A-HEXAHYDRO-7-METHYL-8-[2-[(2R,4R)-TETRAHYDRO-4-HY DROXY-6-OXO-2H-PYRAN-2-YL]ETHYL]-1-NAPHTHALENOL
Novel	CETP	cholesteryl ester transfer protein	LDL remodeling HDL remodeling NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux	Torcetrapib
Novel	CNOT1	CCR4-NOT transcription complex subunit 1	Deadenylation of mRNA TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain M-decay: degradation of maternal mRNAs by maternally stored factors
Novel	GOT2	glutamic-oxaloacetic transaminase 2	Degradation of cysteine and homocysteine Glyoxylate metabolism and glycine degradation Aspartate and asparagine metabolism Glutamate and glutamine metabolism Malate-aspartate shuttle	Pyridoxal phosphate Aspartic acid Glutamic acid Cysteine 4'-Deoxy-4'-Acetylyamino-Pyridoxal-5'-Phosphate
Novel	HSF4	heat shock transcription factor 4
Novel	KCNK17	potassium two pore domain channel subfamily K member 17	TWIK-related alkaline pH activated K+ channel (TALK) Phase 4 - resting membrane potential
Novel	MAP2K5	mitogen-activated protein kinase kinase 5	Signalling to ERK5	Fostamatinib Pimasertib
Novel	SPTSSA	serine palmitoyltransferase small subunit A	Sphingolipid de novo biosynthesis
Novel	WRNIP1	WRN helicase interacting protein 1
	BHMT	betaine--homocysteine S-methyltransferase	Sulfur amino acid metabolism Choline catabolism	Methionine S-(D-Carboxybutyl)-L-Homocysteine Betaine
	EEF1A1	eukaryotic translation elongation factor 1 alpha 1	Eukaryotic Translation Elongation Eukaryotic Translation Elongation Peptide chain elongation HSF1 activation Neutrophil degranulation Protein methylation Chaperone Mediated Autophagy SARS-CoV-1 modulates host translation machinery	Zinc Guanosine-5'-Diphosphate Copper Artenimol Zinc acetate Zinc chloride Zinc sulfate, unspecified form
	EPAS1	endothelial PAS domain protein 1	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	Vadadustat Belzutifan	Congenital polycythemia; Familial erythrocytosis (ECYT)
	EXOC7	exocyst complex component 7	Translocation of SLC2A4 (GLUT4) to the plasma membrane Insulin processing VxPx cargo-targeting to cilium
	FHOD1	formin homology 2 domain containing 1
	FNDC3B	fibronectin type III domain containing 3B
	HNRNPF	heterogeneous nuclear ribonucleoprotein F	FGFR2 alternative splicing mRNA Splicing - Major Pathway Processing of Capped Intron-Containing Pre-mRNA Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation	Phenethyl Isothiocyanate
	HSCB	HscB mitochondrial iron-sulfur cluster cochaperone	Mitochondrial protein import Mitochondrial protein import Mitochondrial iron-sulfur cluster biogenesis Complex I biogenesis Complex III assembly
	KRT18	keratin 18	Keratinization Formation of the cornified envelope Developmental Lineage of Mammary Gland Luminal Epithelial Cells Developmental Lineage of Mammary Gland Alveolar Cells
	LMO4	LIM domain only 4

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