BBS7 - New-wiki

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	ANXA5	annexin A5	Platelet degranulation	Fluocinolone acetonide L-Alpha-Glycerophosphorylserine L-thioproline K201 free base sn-glycero-3-phosphoethanolamine 1,4-Dideoxy-O2-Sulfo-Glucuronic Acid N,O6-Disulfo-Glucosamine 1,4-Dideoxy-5-Dehydro-O2-Sulfo-Glucuronic Acid Copper
Novel	CNGA1	cyclic nucleotide gated channel subunit alpha 1	Activation of the phototransduction cascade Inactivation, recovery and regulation of the phototransduction cascade	Dequalinium	Retinitis pigmentosa (RP)
Novel	MAD2L1	mitotic arrest deficient 2 like 1	Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components Inactivation of APC/C via direct inhibition of the APC/C complex Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Cdc20:Phospho-APC/C mediated degradation of Cyclin A APC/C:Cdc20 mediated degradation of mitotic proteins APC-Cdc20 mediated degradation of Nek2A Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion RHO GTPases Activate Formins Mitotic Prometaphase EML4 and NUDC in mitotic spindle formation
Novel	MSH6	mutS homolog 6	Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) Defective Mismatch Repair Associated With MSH2 Defective Mismatch Repair Associated With MSH6		Colorectal cancer Mismatch repair deficiency, including: Hereditary non-polyposis colorectal cancer (HNPCC); Lynch syndrome; Muir-Torre syndrome; Turcot syndrome
Novel	NDNF	neuron derived neurotrophic factor
Novel	PDE8B	phosphodiesterase 8B	G alpha (s) signalling events	Caffeine Trapidil	Pigmented micronodular adrenocortical disease (PPNAD)
Novel	QRFPR	pyroglutamylated RFamide peptide receptor	Orexin and neuropeptides FF and QRFP bind to their respective receptors G alpha (q) signalling events
Novel	TRPC3	transient receptor potential cation channel subfamily C member 3	Effects of PIP2 hydrolysis Elevation of cytosolic Ca2+ levels TRP channels Role of second messengers in netrin-1 signaling MECP2 regulates neuronal receptors and channels
	FHOD1	formin homology 2 domain containing 1
	JUN	Jun proto-oncogene, AP-1 transcription factor subunit	Pre-NOTCH Transcription and Translation Oxidative Stress Induced Senescence Senescence-Associated Secretory Phenotype (SASP) FCERI mediated MAPK activation Activation of the AP-1 family of transcription factors Activation of anterior HOX genes in hindbrain development during early embryogenesis MAPK6/MAPK4 signaling TP53 Regulates Transcription of DNA Repair Genes Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models Regulation of PTEN gene transcription Regulation of PTEN gene transcription Estrogen-dependent gene expression WNT5:FZD7-mediated leishmania damping	Adapalene Vinblastine Pseudoephedrine Irbesartan Arsenic trioxide LGD-1550
	KRT18	keratin 18	Keratinization Formation of the cornified envelope
	PAX2	paired box 2			Renal coloboma syndrome (RCS); Papillorenal syndrome

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