MSH6 and BBS7

Data Source:
BioGRID (affinity chromatography technology)

		MSH6	BBS7
Description		mutS homolog 6	Bardet-Biedl syndrome 7
Image			No pdb structure
GO Annotations	Cellular Component	Chromatin Nucleus Nucleoplasm Golgi Apparatus Cytosol Mismatch Repair Complex MutSalpha Complex Intracellular Membrane-bounded Organelle	Photoreceptor Outer Segment Nucleus Centrosome Cytosol Axoneme Membrane BBSome Ciliary Basal Body Neuron Projection Ciliary Membrane
	Molecular Function	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	RNA Polymerase II Repressing Transcription Factor Binding Protein Binding
	Biological Process	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	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
Pathways		Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) Defective Mismatch Repair Associated With MSH2 Defective Mismatch Repair Associated With MSH6	BBSome-mediated cargo-targeting to cilium
Drugs
Diseases		Colorectal cancer Mismatch repair deficiency, including: Hereditary non-polyposis colorectal cancer (HNPCC); Lynch syndrome; Muir-Torre syndrome; Turcot syndrome	Bardet-Biedl syndrome (BBS)
GWAS		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)	Asthma ( 31959851)
Interacting Genes		18 interacting genes: BARD1 BRCA1 CHAF1A CREBBP CSNK2A1 EP300 HRAS HUS1 MAP2K1 MSH2 MUTYH NANS PCNA PTEN RAD1 RAD9A SMC1A SUMO2	4 interacting genes: FHOD1 JUN KRT18 PAX2
Entrez ID		2956	55212
HPRD ID		07202	07399
Ensembl ID		ENSG00000116062	ENSG00000138686
Uniprot IDs		P52701 Q3SWU9	Q8IWZ6
PDB IDs		2GFU 2O8B 2O8C 2O8D 2O8E 2O8F 6OQM
Enriched GO Terms of Interacting Partners?
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