EMP2, epithelial membrane protein 2, 2013

N. diseases: 46; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma 		0.010 Biomarker disease BEFREE EMP2 was identified as a tumor-suppressor gene in urinary tract urothelial carcinoma and may be an innovative co-targeting candidate for designing integrin-based cancer therapy. 23838430 2013
CUI: C1658953
Disease: tumor vasculature
tumor vasculature 		0.010 Biomarker phenotype BEFREE A potential therapeutic effect of a systemic administration of anti-EMP2 IgG1 on intracranial xenografts was observed resulting in both significant reduction of tumor load and decreased tumor vasculature. 28597184 2017
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation 		0.010 AlteredExpression phenotype BEFREE ALDH expression significantly promotes tumor initiation and correlates with the levels of EMP2 expression in both patient samples and tumor cell lines. 28604744 2017
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 Biomarker disease BEFREE The homodimeric MtGMPS catalyzes the conversion of XMP, MgATP, and glutamine into GMP, ADP, PP(i), and glutamate. 22119138 2012
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.010 AlteredExpression disease BEFREE Genistein treatment or exogenous expression of the cAMP responsive element binding protein 1 (CREB1) gene in different UBUC-derived cell lines induced EMP2 transcription and subsequent translation. 25940704 2015
CUI: C0403396
Disease: Steroid-sensitive nephrotic syndrome
Steroid-sensitive nephrotic syndrome 		0.310 Biomarker disease GENOMICS_ENGLAND Mutations in EMP2 cause childhood-onset nephrotic syndrome. 24814193 2014
CUI: C0403396
Disease: Steroid-sensitive nephrotic syndrome
Steroid-sensitive nephrotic syndrome 		0.310 GeneticVariation disease BEFREE Mutations in Epithelial Membrane Protein 2 (<i>EMP2</i>), a member of the GAS3/PMP22 tetraspan family of proteins, were recently implicated as putative monogenic cause of steroid sensitive nephrotic syndrome. 31508419 2019
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.010 AlteredExpression disease BEFREE EMP2 overexpression suppressed foci formation, anchorage-independent growth in vitro, and tumorigenicity in severe combined immunodeficiency mice (all P < 0.05). 23838430 2013
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 AlteredExpression group BEFREE Anti-EMP2 IgG1 reduced the expression and activity of ALDH and correspondingly reduced both primary and secondary tumor load. 28604744 2017
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.010 AlteredExpression group BEFREE EMP2, an integrin regulator, is expressed in the retinal pigment epithelium and understanding EMP2 expression in human retinal disease may help determine whether EMP2 is a potential therapeutic target. 27294805 2016
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy 		0.010 AlteredExpression disease BEFREE However all the PVR subgroups had similar levels of EMP2 expression without statistically significant differences by Kruskal-Wallis test. 27294805 2016
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 Biomarker disease BEFREE EMP2 gene silencing and stable lung cancer cell lines established using EMP2 lentiviral shRNA induced K8 phosphorylation and reorganization. 26876307 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 Biomarker group BEFREE EMP2 functions as an oncogene in human endometrial and ovarian cancers; however, characteristics of EMP2 in urothelial cancer fulfill the criteria of a suppressor gene. 28408326 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 AlteredExpression group BEFREE In particular, EMP2 expression correlates with and helps regulate the expression of several cancer stem cell associated markers including aldehyde dehydrogenase 1 (ALDH1). 28604744 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 Biomarker group BEFREE Translational research suggests that EMP2 may be targeted with antibodies to improve tumor control and survival in a variety of murine models and cancer types. 28720310 2017
CUI: C3280103
Disease: Podocyte foot process effacement
Podocyte foot process effacement 		0.100 Biomarker phenotype HPO
CUI: C0032051
Disease: Placental Insufficiency
Placental Insufficiency 		0.210 Biomarker disease MGD
CUI: C0032051
Disease: Placental Insufficiency
Placental Insufficiency 		0.210 Biomarker disease BEFREE To determine if these results translated to human pregnancy, placentas from normal, term deliveries or those complicated by placental insufficiency resulting in intrauterine growth restriction (IUGR) were stained for EMP2. 28295343 2017
CUI: C0031039
Disease: Pericardial effusion
Pericardial effusion 		0.010 Biomarker disease BEFREE Knockdown of emp2 in zebrafish resulted in pericardial effusion, supporting the pathogenic role of mutated EMP2 in human NS. 24814193 2014
CUI: C4014507
Disease: NEPHROTIC SYNDROME, TYPE 10
NEPHROTIC SYNDROME, TYPE 10 		0.700 Biomarker disease CTD_human
CUI: C4014507
Disease: NEPHROTIC SYNDROME, TYPE 10
NEPHROTIC SYNDROME, TYPE 10 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in EMP2 cause childhood-onset nephrotic syndrome. 24814193 2014
CUI: C4014507
Disease: NEPHROTIC SYNDROME, TYPE 10
NEPHROTIC SYNDROME, TYPE 10 		0.700 GeneticVariation disease UNIPROT Mutations in EMP2 cause childhood-onset nephrotic syndrome. 24814193 2014
CUI: C4014507
Disease: NEPHROTIC SYNDROME, TYPE 10
NEPHROTIC SYNDROME, TYPE 10 		0.700 CausalMutation disease CLINVAR
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.300 GermlineCausalMutation disease ORPHANET Mutations in EMP2 cause childhood-onset nephrotic syndrome. 24814193 2014