ERC2 and HNF1B

		ERC2	HNF1B
Description		ELKS/RAB6-interacting/CAST family member 2	HNF1 homeobox B
Image		No pdb structure
GO Annotations	Cellular Component	Cytoplasm Cytoskeleton Growth Cone Presynaptic Membrane Cell Projection Synapse Presynaptic Active Zone Presynapse Presynaptic Active Zone Cytoplasmic Component Glutamatergic Synapse GABA-ergic Synapse	Chromatin Nucleus Nucleoplasm Transcription Regulator Complex Cytosol
	Molecular Function	Protein Binding Structural Constituent Of Presynaptic Active Zone	Transcription Cis-regulatory Region Binding RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific Cis-regulatory Region Sequence-specific DNA Binding Transcription Coregulator Binding DNA Binding DNA-binding Transcription Factor Activity Protein Binding Identical Protein Binding Protein Homodimerization Activity Promoter-specific Chromatin Binding
	Biological Process	Synaptic Vesicle Priming Maintenance Of Presynaptic Active Zone Structure Regulation Of Presynaptic Cytosolic Calcium Ion Concentration Regulation Of Calcium-dependent Activation Of Synaptic Vesicle Fusion	Negative Regulation Of Transcription By RNA Polymerase II Endodermal Cell Fate Specification Kidney Development Inner Cell Mass Cell Differentiation Liver Development Regulation Of Transcription By RNA Polymerase II Apoptotic Process Notch Signaling Pathway Endoderm Development Response To Glucose Anterior/posterior Pattern Specification Gene Expression Positive Regulation Of Gene Expression Insulin Secretion Regulation Of Wnt Signaling Pathway Hindbrain Development Pancreas Development Endocrine Pancreas Development Regulation Of Pronephros Size Pronephric Nephron Tubule Development Negative Regulation Of Apoptotic Process Positive Regulation Of DNA-templated Transcription Positive Regulation Of Transcription By RNA Polymerase II Animal Organ Development Embryonic Digestive Tract Morphogenesis System Development Branching Morphogenesis Of An Epithelial Tube Pronephros Development Genitalia Development Epithelial Cell Proliferation Positive Regulation Of Transcription Initiation By RNA Polymerase II Epithelium Development Ureteric Bud Elongation Kidney Morphogenesis Hepatoblast Differentiation Negative Regulation Of Mesenchymal Cell Apoptotic Process Involved In Mesonephric Nephron Morphogenesis Regulation Of Branch Elongation Involved In Ureteric Bud Branching Mesonephric Tubule Development Nephric Duct Development Mesonephric Duct Development Nephric Duct Formation Mesonephric Duct Formation Mesenchymal Cell Apoptotic Process Involved In Metanephros Development Negative Regulation Of Mesenchymal Cell Apoptotic Process Involved In Metanephros Development
Pathways			Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells Regulation of gene expression in early pancreatic precursor cells Nephron development Developmental Lineage of Pancreatic Acinar Cells Developmental Lineage of Pancreatic Ductal Cells Developmental Lineage of Multipotent Pancreatic Progenitor Cells
Drugs
Diseases			Uromodulin-associated kidney diseases, including: Medullary cystic kidney disease 2; Familial juvenile hyperuremic nephropathy; Glomerulocystic kidney disease Maturity onset diabetes of the young (MODY) Type II diabetes mellitus
GWAS		Acute lymphoblastic leukemia (childhood) ( 22076464) Adult body size ( 32376654) Alcohol dependence ( 24166409) Bipolar disorder and schizophrenia ( 21057379) Brain morphology (min-P) ( 32665545) Brain morphology (MOSTest) ( 32665545) Chronotype ( 26955885) Cortical surface area (MOSTest) ( 32665545) Daytime sleep phenotypes ( 27126917) Electrocardiogram morphology (amplitude at temporal datapoints) ( 32916098) Heel bone mineral density ( 30598549 28869591) Hip bone size ( 31053729) Hip circumference adjusted for BMI ( 34021172) Hip geometry ( 17903296) Intertrochanteric region size ( 31053729) Lateral thalamic nuclei volume ( 34006833) Lung function in never smokers (high FEV1 vs average FEV1) ( 26423011) Morning vs. evening chronotype ( 26955885 27494321) Night sleep phenotypes ( 27126917) Periodontitis (Mean PAL) ( 24024966) Post bronchodilator FEV1/FVC ratio ( 26634245) Refractive error ( 32231278) Sense of smell ( 26632684) Subcortical volume (min-P) ( 32665545) Subcortical volume (MOSTest) ( 32665545) Tourette syndrome ( 30818990) Trochanter size ( 31053729)	Alanine aminotransferase levels ( 34315874 33547301) Aspartate aminotransferase levels ( 34315874 33547301) Benign prostatic hyperplasia and lower urinary tract symptoms ( 30410027) Blood urea nitrogen levels ( 29403010 31152163) Body mass index ( 28892062) C-reactive protein levels ( 33339817) Cancer ( 27197191) Cancer (pleiotropy) ( 27197191) Endometrial cancer ( 21499250 27135401 27008869 30093612) Endometrial cancer (endometrioid histology) ( 30093612) Endometrial endometrioid carcinoma ( 27135401) Epithelial ovarian cancer ( 25581431) Frontotemporal dementia ( 26154020) Gallstone disease ( 30504769) Liver enzyme levels (gamma-glutamyl transferase) ( 33972514) Medication use (drugs used in diabetes) ( 31015401) Neuritic plaque ( 25188341) Ovarian cancer ( 23535730) Pancreatic cancer ( 29422604) Pancreatic ductal adenocarcinoma ( 30541042) Prostate cancer ( 34012061 30410027 31562322 18264097 25939597 18264096 20676098 26443449 27262462) Prostate-specific antigen levels ( 30410027 28139693) Serum prostate-specific antigen levels ( 21160077) Testicular germ cell tumor ( 28604728 28604732 25877299) Type 2 diabetes ( 24509480 30054458 20581827 22885922 22961080 23945395 32499647 28869590 30718926 26818947 30297969)
Interacting Genes		9 interacting genes: BSN MYB NRIP1 PCLO PPFIA1 PPFIA2 PPFIA3 PPFIA4 RIMS1	35 interacting genes: ATF1 BPIFA1 C10orf55 CREB1 CREBBP CRX H3C1 HNF1A KRTAP26-1 LHX4 MLLT10 OTUD3 OTX2 OXER1 PAX2 PAX6 PAX7 PAX8 POU6F2 PRDM1 SOX10 SOX15 SOX17 SOX2 SOX5 SOX6 SOX9 SP7 TBR1 TLX2 TLX3 UFSP1 USP54 VAC14 YY1
Entrez ID		26059	6928
HPRD ID		10810	08926
Ensembl ID		ENSG00000187672	ENSG00000275410
Uniprot IDs		H7C4G9 O15083	A0A087WZC2 A0A0C4DGS8 E0YMJ6 P35680 Q6FHW6
PDB IDs			2DA6 2H8R 5K9S
Enriched GO Terms of Interacting Partners?		Presynaptic Active Zone Synapse Organization Cell Junction Organization Maintenance Of Synapse Structure Structural Constituent Of Presynaptic Active Zone Maintenance Of Presynaptic Active Zone Structure Cell Junction Maintenance Presynaptic Active Zone Organization Cellular Component Maintenance Cytoskeleton Of Presynaptic Active Zone Synaptic Vesicle Exocytosis Presynaptic Active Zone Assembly Signal Release Organelle Localization Synapse Synaptic Vesicle Docking Presynaptic Active Zone Cytoplasmic Component Vesicle-mediated Transport In Synapse Synaptic Vesicle Clustering Regulated Exocytosis Vesicle Localization Secretion By Cell Presynapse Organization Axon Modulation Of Chemical Synaptic Transmission Secretion Regulation Of Exocytosis Regulation Of Vesicle-mediated Transport Exocytosis Organelle Glutamatergic Synapse Regulation Of Secretion By Cell Vesicle Docking Involved In Exocytosis Regulation Of Secretion Insulin Secretion Postsynaptic Density Regulation Of Synaptic Vesicle Exocytosis Mesonephric Duct Formation Negative Regulation Of Mesenchymal Cell Apoptotic Process Involved In Mesonephric Nephron Morphogenesis Ureteric Bud Elongation Pronephric Nephron Tubule Development Mesenchymal Cell Apoptotic Process Involved In Metanephros Development Ovarian Follicle Rupture Structural Constituent Of Presynapse Vesicle Docking Epididymosome Protein Localization To Synapse Peptide Hormone Secretion Peptide Secretion Organelle Localization By Membrane Tethering	DNA-binding Transcription Factor Activity Chromatin DNA-binding Transcription Factor Activity, RNA Polymerase II-specific RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding DNA Binding Transcription Cis-regulatory Region Binding DNA-binding Transcription Activator Activity, RNA Polymerase II-specific Regulation Of Transcription By RNA Polymerase II Positive Regulation Of Transcription By RNA Polymerase II Regulation Of DNA-templated Transcription Regulation Of RNA Biosynthetic Process Sequence-specific Double-stranded DNA Binding Positive Regulation Of DNA-templated Transcription Positive Regulation Of RNA Biosynthetic Process Regulation Of RNA Metabolic Process Positive Regulation Of RNA Metabolic Process Animal Organ Development Regulation Of Nucleobase-containing Compound Metabolic Process Cell Differentiation Positive Regulation Of Nucleobase-containing Compound Metabolic Process Neuron Differentiation Positive Regulation Of Macromolecule Biosynthetic Process Cell Fate Specification Positive Regulation Of Biosynthetic Process Positive Regulation Of Stem Cell Differentiation Transcription Regulator Complex Regulation Of Gene Expression Regulation Of Macromolecule Biosynthetic Process Cellular Developmental Process Cell Fate Commitment Regulation Of Primary Metabolic Process Regulation Of Macromolecule Metabolic Process Positive Regulation Of Macromolecule Metabolic Process Metanephric Nephron Tubule Formation Sequence-specific DNA Binding Regulation Of Developmental Process Metanephric Tubule Formation Positive Regulation Of Mesenchymal Stem Cell Differentiation Regulation Of Cell Differentiation Positive Regulation Of Metabolic Process Lacrimal Gland Development Regulation Of Metabolic Process Gene Expression Regulation Of Multicellular Organismal Development Ureter Development Developmental Process Central Nervous System Development Regulation Of Stem Cell Differentiation Negative Regulation Of Mesenchymal Cell Apoptotic Process Regulation Of Mesenchymal Stem Cell Differentiation
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