TCF7L2 and PSEN1

Data Source:
HPRD (in vitro, in vivo)

		TCF7L2	PSEN1
Description		transcription factor 7 like 2	presenilin 1
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GO Annotations	Cellular Component	Chromatin Nucleus Nucleoplasm PML Body Protein-DNA Complex Beta-catenin-TCF7L2 Complex Catenin-TCF7L2 Complex Beta-catenin-TCF Complex	Golgi Membrane Kinetochore Nucleus Nuclear Outer Membrane Nucleoplasm Mitochondrion Mitochondrial Inner Membrane Lysosomal Membrane Endoplasmic Reticulum Endoplasmic Reticulum Membrane Smooth Endoplasmic Reticulum Rough Endoplasmic Reticulum Golgi Apparatus Centrosome Plasma Membrane Integral Component Of Plasma Membrane Cell Cortex Synaptic Vesicle Cell Surface Membrane Integral Component Of Membrane Aggresome Apical Plasma Membrane Z Disc Cell Junction Growth Cone Neuromuscular Junction Early Endosome Membrane Nuclear Membrane Protein-containing Complex Ciliary Rootlet Azurophil Granule Membrane Sarcolemma Neuron Projection Neuronal Cell Body Dendritic Shaft Membrane Raft Perinuclear Region Of Cytoplasm Gamma-secretase Complex Integral Component Of Presynaptic Membrane
	Molecular Function	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 RNA Polymerase II Repressing Transcription Factor Binding DNA-binding Transcription Factor Activity Protein Binding Beta-catenin Binding Transcription Factor Binding Protein Kinase Binding Nuclear Hormone Receptor Binding Sequence-specific DNA Binding Gamma-catenin Binding Armadillo Repeat Domain Binding	Endopeptidase Activity Aspartic-type Endopeptidase Activity Calcium Channel Activity Protein Binding Beta-catenin Binding PDZ Domain Binding Aspartic Endopeptidase Activity, Intramembrane Cleaving Cadherin Binding ATPase Binding Growth Factor Receptor Binding
	Biological Process	Negative Regulation Of Transcription By RNA Polymerase II Blood Vessel Development Regulation Of Transcription By RNA Polymerase II Cell Cycle Arrest Wnt Signaling Pathway, Calcium Modulating Pathway Response To Glucose Positive Regulation Of Heparan Sulfate Proteoglycan Biosynthetic Process Pancreas Development Positive Regulation Of Insulin Secretion Positive Regulation Of Protein Binding Regulation Of Hormone Metabolic Process Glucose Homeostasis Negative Regulation Of DNA-binding Transcription Factor Activity Maintenance Of DNA Repeat Elements Canonical Wnt Signaling Pathway Involved In Positive Regulation Of Epithelial To Mesenchymal Transition Fat Cell Differentiation Negative Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription By RNA Polymerase II Positive Regulation Of Protein Export From Nucleus Myoblast Fate Commitment Regulation Of Smooth Muscle Cell Proliferation Positive Regulation Of Epithelial Cell Proliferation Positive Regulation Of Protein Kinase B Signaling Canonical Wnt Signaling Pathway Negative Regulation Of Canonical Wnt Signaling Pathway Beta-catenin-TCF Complex Assembly Negative Regulation Of Type B Pancreatic Cell Apoptotic Process Negative Regulation Of Extrinsic Apoptotic Signaling Pathway	Autophagosome Assembly Negative Regulation Of Transcription By RNA Polymerase II Activation Of MAPKK Activity Blood Vessel Development Cell Fate Specification Somitogenesis Neuron Migration Positive Regulation Of Receptor Recycling Heart Looping Positive Regulation Of L-glutamate Import Across Plasma Membrane Hematopoietic Progenitor Cell Differentiation Astrocyte Activation Involved In Immune Response T Cell Activation Involved In Immune Response Neural Retina Development Protein Glycosylation Membrane Protein Ectodomain Proteolysis Calcium Ion Transport Mitochondrial Transport Cellular Response To DNA Damage Stimulus Response To Oxidative Stress Negative Regulation Of Epidermal Growth Factor-activated Receptor Activity Notch Receptor Processing Learning Or Memory Memory Post-embryonic Development Regulation Of Gene Expression Positive Regulation Of Gene Expression Negative Regulation Of Gene Expression Regulation Of Neuron Projection Development Protein Transport Choline Transport Synaptic Vesicle Targeting Protein Processing Cerebellum Development Cerebral Cortex Cell Migration Cajal-Retzius Cell Differentiation Dorsal/ventral Neural Tube Patterning Embryonic Limb Morphogenesis Membrane Protein Intracellular Domain Proteolysis Positive Regulation Of Protein Binding Positive Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Endoplasmic Reticulum Calcium Ion Homeostasis Positive Regulation Of Tumor Necrosis Factor Production Amyloid-beta Formation Notch Receptor Processing, Ligand-dependent Intracellular Signal Transduction Positive Regulation Of Protein Import Into Nucleus Regulation Of Phosphorylation Positive Regulation Of Phosphorylation Amyloid Precursor Protein Metabolic Process Amyloid Precursor Protein Catabolic Process Myeloid Dendritic Cell Differentiation Positive Regulation Of Apoptotic Process Negative Regulation Of Apoptotic Process Positive Regulation Of Catalytic Activity Neutrophil Degranulation Positive Regulation Of MAP Kinase Activity Negative Regulation Of Neuron Apoptotic Process Skin Morphogenesis Positive Regulation Of Glycolytic Process Positive Regulation Of Transcription, DNA-templated Ephrin Receptor Signaling Pathway Astrocyte Activation Regulation Of Synaptic Plasticity Thymus Development Neuron Development Skeletal System Morphogenesis Brain Morphogenesis Amyloid-beta Metabolic Process Epithelial Cell Proliferation Negative Regulation Of Axonogenesis Synapse Organization Positive Regulation Of Coagulation T Cell Receptor Signaling Pathway Sequestering Of Calcium Ion Neuron Apoptotic Process Negative Regulation Of Ubiquitin-protein Transferase Activity Smooth Endoplasmic Reticulum Calcium Ion Homeostasis Regulation Of Synaptic Transmission, Glutamatergic Regulation Of Resting Membrane Potential Regulation Of Canonical Wnt Signaling Pathway Positive Regulation Of Dendritic Spine Development Calcium Ion Transmembrane Transport Modulation Of Age-related Behavioral Decline Cell-cell Adhesion L-glutamate Import Across Plasma Membrane Cellular Response To Amyloid-beta Negative Regulation Of Core Promoter Binding Negative Regulation Of Low-density Lipoprotein Receptor Activity Positive Regulation Of Amyloid Fibril Formation Neuron Projection Maintenance Negative Regulation Of Ubiquitin-dependent Protein Catabolic Process Negative Regulation Of Apoptotic Signaling Pathway
Pathways		Formation of the beta-catenin:TCF transactivating complex Formation of the beta-catenin:TCF transactivating complex Deactivation of the beta-catenin transactivating complex Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) Ca2+ pathway Binding of TCF/LEF:CTNNB1 to target gene promoters Repression of WNT target genes Repression of WNT target genes Signaling by TCF7L2 mutants Transcriptional Regulation by VENTX RUNX3 regulates WNT signaling	Nuclear signaling by ERBB4 Degradation of the extracellular matrix Regulated proteolysis of p75NTR NRIF signals cell death from the nucleus Activated NOTCH1 Transmits Signal to the Nucleus Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants NOTCH2 Activation and Transmission of Signal to the Nucleus EPH-ephrin mediated repulsion of cells Neutrophil degranulation NOTCH3 Activation and Transmission of Signal to the Nucleus NOTCH4 Activation and Transmission of Signal to the Nucleus Noncanonical activation of NOTCH3
Drugs
Diseases		Type II diabetes mellitus	Acne inversa; Hidradenitis supprativa Frontotemporal lobar degeneration (FTLD), including: Pick disease of brain; Frontotemporal dementia (FTD); Ubiquitin-positive frontotemporal dementia (UP-FTD); Progressive supranuclear palsy type 1 (PSNP1); Inclusion body myopathy with early-onset paget disease and frontotemporal dementia (IBMPFD); Frontotemporal dementia, chromosome 3-linked (FTD3) Alzheimer's disease (AD)
GWAS		Adult body size ( 32376654) Alzheimer's disease or fasting glucose levels (pleiotropy) ( 30805717) Bipolar disorder (body mass index interaction) ( 24322204) Blood glucose levels ( 29615537 31928498) BMI (adjusted for smoking behaviour) ( 28443625) BMI in non-smokers ( 28443625) Body mass index ( 29381148 26426971 31453325 28892062 25673413 28448500) Body mass index (age>50) ( 26426971) Body mass index (joint analysis main effects and physical activity interaction) ( 28448500) Body mass index (joint analysis main effects and smoking interaction) ( 28443625) Body mass index in physically active individuals ( 28448500) Body mass index variance ( 31453325) Body mass index x sex x age interaction (4df test) ( 26426971) Brain morphology (MOSTest) ( 32665545) Breast cancer ( 23535729 27117709) Breast Cancer in BRCA1 mutation carriers ( 23544013) Circulating leptin levels or type 2 diabetes ( 32341051) Clinical laboratory measurements ( 27897004) Cognitive decline (age-related) ( 28078323) Colorectal cancer ( 30529582 24836286 29471430) Colorectal cancer or advanced adenoma ( 30510241) Coronary artery disease ( 29212778) Fasting blood glucose ( 25631608 20081858 22581228) Fasting blood glucose (BMI interaction) ( 22581228) Fasting blood insulin ( 22581228) Fasting blood insulin (BMI interaction) ( 22581228) Glucosuria ( 30476138) Glucosuria (mild) ( 30476138) Glucosuria (moderate to severe) ( 30476138) Glycated hemoglobin levels ( 20849430 28898252) Glycemic traits (pleiotropy) ( 31021400) Granulocyte percentage of myeloid white cells ( 27863252) Gut microbiota relative abundance (Ruminococcus belonging to family Lachnospiraceae) ( 33208821) Heel bone mineral density ( 30598549 28869591) Hemoglobin ( 32888494) Hemoglobin A1c levels ( 29403010) High light scatter reticulocyte count ( 32888494) High myopia ( 31816047) Hip circumference ( 25673412) Insulin-related traits (multivariate analysis) ( 32002517) Intraocular pressure ( 29617998 29785010) Ischemic stroke ( 26732560) Medication use (drugs used in diabetes) ( 31015401) Medication use (HMG CoA reductase inhibitors) ( 31015401) Metabolic syndrome ( 20694148) Metabolite levels ( 23823483) Monocyte percentage of white cells ( 32888494 27863252) Myopia ( 27182965) Offspring birth weight ( 31043758) Peak insulin response ( 28490609) Peripheral artery disease ( 31285632) Proinsulin levels ( 21873549) Prostate cancer ( 29892016) Pulse pressure ( 27841878 30578418) Refractive error ( 32231278) Retinopathy x type 2 diabetes interaction ( 32541925) Schizophrenia vs type 2 diabetes ( 30470734) Spherical equivalent or myopia (age of diagnosis) ( 29808027) Systolic blood pressure ( 27841878 30578418) Two-hour glucose challenge ( 20081857) Type 2 diabetes ( 27189021 17668382 22885922 18372903 24509480 17293876 30054458 30470734 22693455 26961502 31324766 29358691 25102180 30297969 19734900 28254843 25483131 17554300 26818947 31049640 23945395 31118516 23300278 32499647 20581827 19401414 24390345 17463246 30718926 17463248 17463249 22101970 21347282 28869590 17460697 19056611 23209189) Urate levels ( 31578528) Waist circumference ( 25673412) Waist-to-hip ratio adjusted for body mass index ( 28430825)	Apolipoprotein B levels ( 32203549) Red cell distribution width ( 32888494) Refractive error ( 32231278) Reticulocyte fraction of red cells ( 32888494)
Interacting Genes		47 interacting genes: AR BPIFA1 C19orf54 CCNG2 CNFN CRX CSNK2A1 CSNK2A2 CTNNB1 CTNNBIP1 CYSRT1 DAXX DAZAP2 EP300 FAM168B FBLN1 HIC1 INTS11 JUP KCNE4 KMT5A KRTAP19-5 KRTAP19-7 KRTAP21-2 KRTAP6-1 KRTAP6-2 KRTAP6-3 KRTAP7-1 MEN1 MSX2 PRKAB2 PRR20A PRR20B PRR20C PRR20D PRR20E PSEN1 PSMA3 RBPMS RNF138 SMUG1 TLE3 TLE5 TRAF1 TSC1 UFSP1 ZNF34	92 interacting genes: ACTN1 AP1M2 APBA1 APH1A APH1B APOE APP BACE1 BCL2 BCL2L1 CASP1 CASP3 CASP4 CASP6 CASP7 CASP8 CDH1 CDK5 CFL1 CIB1 CTNNA1 CTNNB1 CTNND1 CTNND2 CYP2C18 CYP2C8 DLL1 DOCK3 ECSIT EFHD1 EFNB2 ENSA EPB41L3 ERN1 ETFA FBXL12 FBXW7 FGF13 FLNA FLNB GAPDH GCDH GDI1 GFAP GSK3B HERPUD1 HMGB1 ICAM5 ITSN2 JUP KANK2 KCNIP3 KCNIP4 MAPK9 MAPT METTL2B MTCH1 NCSTN NOS3 NOTCH1 NOTCH2 NOTCH3 NOTCH4 OXCT1 PDCD4 PIK3R1 PKP4 PRAM1 PRDX2 PRKACA PRKCZ PSENEN PSMA5 PSMB1 RAB11A RAB3A RAD23A RHEB RMDN3 RNF32 RYR2 SCAF11 SCN1A SLC10A6 ST13 STAMBPL1 TCF7L2 TDP2 TUBA1B UBQLN1 UMPS YME1L1
Entrez ID		6934	5663
HPRD ID		03751	00087
Ensembl ID		ENSG00000148737	ENSG00000080815
Uniprot IDs		A0A0A0MTL7 C6ZRJ7 C6ZRK1 C6ZRK2 C6ZRK5 Q5VVR7 Q6FHW4 Q9NQB0	A0A024R6A3 A0A0S2Z4D2 P49768
PDB IDs		1JDH 1JPW 2GL7	2KR6 4UIS 5A63 5FN2 5FN3 5FN4 5FN5 6IDF 6IYC
Enriched GO Terms of Interacting Partners?
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