BBS7 and MSH6

Data Source:
BioGRID (affinity chromatography technology)

		BBS7	MSH6
Description		Bardet-Biedl syndrome 7	mutS homolog 6
Image		No pdb structure
GO Annotations	Cellular Component	Photoreceptor Outer Segment Nucleus Centrosome Cytosol Axoneme Membrane BBSome Ciliary Basal Body Neuron Projection Ciliary Membrane	Chromatin Nucleus Nucleoplasm Golgi Apparatus Cytosol Mismatch Repair Complex MutSalpha Complex Intracellular Membrane-bounded Organelle
	Molecular Function	RNA Polymerase II Repressing Transcription Factor Binding Protein Binding	Magnesium Ion Binding Four-way Junction DNA Binding Chromatin Binding Double-stranded DNA Binding Protein Binding ATP Binding DNA-dependent ATPase Activity ATPase Activity Enzyme Binding Mismatched DNA Binding Guanine/thymine Mispair Binding Single Guanine Insertion Binding Single Thymine Insertion Binding Oxidized Purine DNA Binding MutLalpha Complex Binding Methylated Histone Binding Protein Homodimerization Activity ADP Binding
	Biological Process	Eye Development Heart Looping Regulation Of Transcription By RNA Polymerase II Smoothened Signaling Pathway Determination Of Left/right Symmetry Brain Development Visual Perception Protein Localization Protein Transport Melanosome Transport Positive Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Fat Cell Differentiation Intracellular Transport Digestive Tract Morphogenesis Pigment Granule Aggregation In Cell Center Limb Development Cilium Assembly Primary Palate Development Non-motile Cilium Assembly	Meiotic Mismatch Repair DNA Repair Pyrimidine Dimer Repair Mismatch Repair Determination Of Adult Lifespan Intrinsic Apoptotic Signaling Pathway In Response To DNA Damage Response To UV Viral Process Somatic Hypermutation Of Immunoglobulin Genes Somatic Recombination Of Immunoglobulin Gene Segments Interstrand Cross-link Repair Maintenance Of DNA Repeat Elements Isotype Switching Negative Regulation Of DNA Recombination Positive Regulation Of Helicase Activity Intrinsic Apoptotic Signaling Pathway
Pathways		BBSome-mediated cargo-targeting to cilium	Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) Defective Mismatch Repair Associated With MSH2 Defective Mismatch Repair Associated With MSH6
Drugs
Diseases		Bardet-Biedl syndrome (BBS)	Colorectal cancer Mismatch repair deficiency, including: Hereditary non-polyposis colorectal cancer (HNPCC); Lynch syndrome; Muir-Torre syndrome; Turcot syndrome
GWAS		Asthma ( 31959851)	General risk tolerance (MTAG) ( 30643258) Heel bone mineral density ( 30598549) Lifetime average cigarettes per day in chronic obstructive pulmonary disease ( 21685187) Menopause (age at onset) ( 26414677) Takayasu arteritis ( 25604533) Tea consumption ( 31046077)
Interacting Genes		4 interacting genes: FHOD1 JUN KRT18 PAX2	18 interacting genes: BARD1 BRCA1 CHAF1A CREBBP CSNK2A1 EP300 HRAS HUS1 MAP2K1 MSH2 MUTYH NANS PCNA PTEN RAD1 RAD9A SMC1A SUMO2
Entrez ID		55212	2956
HPRD ID		07399	07202
Ensembl ID		ENSG00000138686	ENSG00000116062
Uniprot IDs		Q8IWZ6	P52701 Q3SWU9
PDB IDs			2GFU 2O8B 2O8C 2O8D 2O8E 2O8F 6OQM
Enriched GO Terms of Interacting Partners?
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