SH3PXD2A, SH3 and PX domains 2A, 9644

N. diseases: 32; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.050 AlteredExpression phenotype BEFREE Tyrosine kinase substrate with five SH3 domains (Tks5, also known as SH3PXD2A) and cortactin are required for the formation of invadopodia, actin-based protrusions of tumour cells with associated proteolytic activity implicated in tumour invasion. 22249020 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.110 AlteredExpression disease BEFREE TKS5 overexpression was regulated by the intracellular metabolic environment of RA T cells-specifically, by reduced glycolytic flux that led to deficiencies in ATP and pyruvate. 28737753 2017
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.010 Biomarker phenotype BEFREE Tks5 and Dynamin-2 enhance actin bundle rigidity in invadosomes to promote myoblast fusion. 30894403 2019
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
0.010 Biomarker phenotype BEFREE Fish protein-derived bioactive peptides may improve endothelial dysfunction through an antihypertensive and antioxidant effect. 31271072 2020
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 GeneticVariation disease BEFREE A recent study reported a statistically significant interaction between 2 variants of these genes (rs3740473 for SH3PXD2A and rs11244787 for ADAM12) with respect to the risk of developing AD. 19837132 2010
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.400 GeneticVariation disease GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.050 AlteredExpression phenotype BEFREE Both Girdin and Tks5, but not the Tks5 nonphosphorylatable mutant, were responsible for the enhanced invadopodium formation and invasion of Dlg5-silenced HepG2 cells. 28390157 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 Biomarker disease BEFREE Discs large homolog 5 decreases formation and function of invadopodia in human hepatocellular carcinoma via Girdin and Tks5. 28390157 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.310 Biomarker disease BEFREE Gene-based tests revealed association between common variants in 3 MIR185 target genes (ATAT1, SH3PXD2A, NTRK3) and schizophrenia. 24936775 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.310 Biomarker disease PSYGENET Gene-based tests revealed association between common variants in 3 MIR185 target genes (ATAT1, SH3PXD2A, NTRK3) and schizophrenia. 24936775 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 Biomarker group BEFREE Genetic or pharmacological inhibition of invadopodia initiation (cortactin), maturation (Tks5), or function (Tks4) resulted in an abrogation of cancer cell extravasation and metastatic colony formation in an experimental mouse lung metastasis model. 25176655 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 Biomarker group BEFREE Genetic or pharmacological inhibition of invadopodia initiation (cortactin), maturation (Tks5), or function (Tks4) resulted in an abrogation of cancer cell extravasation and metastatic colony formation in an experimental mouse lung metastasis model. 25176655 2014
CUI: C0040420
Disease: Tonometry
Tonometry
0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018
CUI: C0004096
Disease: Asthma
Asthma
0.100 GeneticVariation disease GWASCAT Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma. 25918132 2015
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.400 GeneticVariation disease GWASCAT Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development. 29290336 2018
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.010 Biomarker disease BEFREE Here we report that Tks5, which has been linked to the formation of proteolytic cellular protrusions known as invadopodia, undergoes an isoform switch during metastatic progression in a genetically engineered mouse model of lung adenocarcinoma. 23873940 2013
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.400 GeneticVariation disease GWASCAT Identification of six new genetic loci associated with atrial fibrillation in the Japanese population. 28416822 2017
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.400 Biomarker disease CTD_human Identification of six new genetic loci associated with atrial fibrillation in the Japanese population. 28416822 2017
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation
0.300 Biomarker disease CTD_human Identification of six new genetic loci associated with atrial fibrillation in the Japanese population. 28416822 2017
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation
0.300 Biomarker phenotype CTD_human Identification of six new genetic loci associated with atrial fibrillation in the Japanese population. 28416822 2017
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation
0.300 Biomarker phenotype CTD_human Identification of six new genetic loci associated with atrial fibrillation in the Japanese population. 28416822 2017
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
0.010 GeneticVariation disease BEFREE Interaction between the ADAM12 and SH3MD1 genes may confer susceptibility to late-onset Alzheimer's disease. 17440933 2007
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.400 GeneticVariation disease GWASCAT Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. 28416818 2017
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Finding of Mean Corpuscular Hemoglobin
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019