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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.050 AlteredExpression phenotype BEFREE They included secreted factors (CSF2, SDF-1), proteolytic enzymes (MMP9, CST7), cytoskeleton modulators (SDC2, Twinfilin, SH3PXD2A), intracellular signaling molecules (DUSP1, SPHK1, RASD1) and transcription factors (Sox9, SNAI2, SMAD3) functioning in epithelium to mesenchyme transition (EMT), tissue invasion, as well as homing and attachment to bone. 20863401 2010
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: 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 Biomarker disease BEFREE Rescue assays were used to determine whether P57 and Kruppel-like factor 2 (KLF2) were involved in SH3PXD2A-ASl-dependent CRC proliferation. 29734178 2018
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		0.010 PosttranslationalModification phenotype BEFREE Methylation in six out of nine (67%) gestational diabetes-associated genes was validated and we also showed that methylation of SH3PXD2A was significantly (P<0.05) associated with multiple adiposity-related outcomes. 29461653 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE Rescue experiments suggested that SH3PXD2A-ASl-mediated oncogenesis was impaired by overexpression of P57 or KLF2. 29734178 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE Our research has identified several examples in which reduced VEGF-A binding to deficient vascular extracellular matrix leads to deficits in tumor vascularization and tumor growth: (1) germline ablation of collagen VI in the stroma of intracranial B16F10 melanomas; (2) knockdown of the Tks5 scaffolding protein in MDA-MB-231 mammary tumor cells; (3) germline ablation of NG2 proteoglycan in the stroma of MMTV-PyMT mammary tumors; and (4) myeloid-specific ablation of NG2 in the stroma of intracranial B16F10 melanomas. 28788063 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: C0025202
Disease: melanoma
melanoma 		0.010 AlteredExpression disease BEFREE Moreover, metastatic melanoma cases showed higher expression of Tks5 than primary melanoma cases. 27802184 2016
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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE These data indicate that tipping the Tks5 isoform balance to a high Tks5long to Tks5short ratio promotes invadopodia-mediated invasion and metastasis. 23873940 2013
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: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.010 Biomarker group BEFREE These results suggest a prognostic relevance for the Tks5 invadopodial protein in glial-derived brain tumours. 22249020 2012
CUI: C0017638
Disease: Glioma
Glioma 		0.010 AlteredExpression disease BEFREE We investigated the prognostic significance of Tks5 and cortactin expression in 57 patients with various grades of glioma. 22249020 2012
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: 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