ASXL2, ASXL transcriptional regulator 2, 55252

N. diseases: 89; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.330 GeneticVariation disease BEFREE We identified ASXL2 (34.1%) and ZBTB7A (9.8%) mutations in only AML patients with t(8;21). 30251205 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.330 GeneticVariation disease BEFREE These results identify a high-frequency mutation in t(8;21) AML and identify the need for future studies to investigate the clinical and biological relevance of ASXL2 mutations in this unique subset of AML. 24973361 2014
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.330 GeneticVariation disease BEFREE Clinical features of pediatric acute myeloid leukemia (AML) patients with ASXL2 mutations remain unclear. 28063196 2017
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.110 Biomarker disease BEFREE Although overlapping features with Bohring-Opitz and Bainbridge-Ropers syndromes exist, features that distinguish the ASXL2-associated condition from ASXL1- and ASXL3-related disorders are macrocephaly, absence of growth retardation, and more variability in the degree of intellectual disabilities. 27693232 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group BEFREE Although overlapping features with Bohring-Opitz and Bainbridge-Ropers syndromes exist, features that distinguish the ASXL2-associated condition from ASXL1- and ASXL3-related disorders are macrocephaly, absence of growth retardation, and more variability in the degree of intellectual disabilities. 27693232 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE On ASXL2 depletion, the proliferative potential of MCF7 cells and tumor size of xenograft mice decreased. 26640146 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE Our study demonstrates that ASXL2 functions as a tumour suppressor to maintain normal HSC function. 28593990 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE Here we report that ASXL2 is required for normal haematopoiesis with distinct, non-overlapping effects from ASXL1 and acts as a haploinsufficient tumour suppressor. 28516957 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 AlteredExpression group BEFREE Finally, the protein levels of ASXL2, BAP1 and UBE2E enzymes are highly correlated in mesothelioma tumors suggesting the importance of this signaling axis for tumor suppression. 30349006 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 Biomarker group BEFREE However, the roles of ASXL2 in normal haematopoiesis and the pathogenesis of myeloid malignancies remain unknown. 28593990 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 Biomarker group BEFREE Small-molecule approaches to reactivate latent wild-type UCH activity of these mutants might be therapeutically viable.<b>Significance:</b> Combined computational and biochemical approaches demonstrate that the BAP1-ASXL2 interaction is direct and high affinity and that many <i>BAP1</i> mutations act allosterically to inhibit BAP1-ASXL2 binding.<i>Cancer Res; 78(5); 1200-13.©2017 AACR</i>. 29284740 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 Biomarker group BEFREE The BAP1/ASXL2 Histone H2A Deubiquitinase Complex Regulates Cell Proliferation and Is Disrupted in Cancer. 26416890 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 AlteredExpression disease BEFREE Truncation mutations of ASXL1 occur in colorectal cancers with microsatellite instability (MSI), malignant myeloid diseases, chronic lymphocytic leukaemia, head and neck squamous cell carcinoma, and liver, prostate and breast cancers; those of ASXL2 occur in prostate cancer, pancreatic cancer and breast cancer and those of ASXL3 are observed in melanoma. 23736028 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 Biomarker disease BEFREE Together with our finding on the higher ASXL2 expression in ERα-positive patients, we propose that ASXL2 could be a novel prognostic marker in breast cancer. 26640146 2016
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		0.020 GeneticVariation disease BEFREE We identified ASXL2 (34.1%) and ZBTB7A (9.8%) mutations in only AML patients with t(8;21). 30251205 2019
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		0.020 GeneticVariation disease BEFREE Clinical features of pediatric acute myeloid leukemia (AML) patients with ASXL2 mutations remain unclear. 28063196 2017
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.020 GeneticVariation disease BEFREE These results suggest that ASXL1 and ASXL2 mutations play key roles as cooperating mutations that induce leukemogenesis, particularly in pediatric AML patients with t(8;21), and these mutations might be associated with a better prognosis than that reported previously. 28063196 2017
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.020 Biomarker disease BEFREE These data reveal that Asxl2 is a critical regulator of haematopoiesis and mediates transcriptional effects that promote leukemogenesis driven by AML1-ETO. 28516957 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 Biomarker group BEFREE The BAP1/ASXL2 Histone H2A Deubiquitinase Complex Regulates Cell Proliferation and Is Disrupted in Cancer. 26416890 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 Biomarker group BEFREE Small-molecule approaches to reactivate latent wild-type UCH activity of these mutants might be therapeutically viable.<b>Significance:</b> Combined computational and biochemical approaches demonstrate that the BAP1-ASXL2 interaction is direct and high affinity and that many <i>BAP1</i> mutations act allosterically to inhibit BAP1-ASXL2 binding.<i>Cancer Res; 78(5); 1200-13.©2017 AACR</i>. 29284740 2018
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		0.010 AlteredExpression group BEFREE We propose that chromatin factors like Asxl2 function in the adult heart to regulate cell type- and stage-specific patterns of gene expression, and the disruption of such regulation may be involved in the etiology and/or development of certain forms of human heart disease. 23046516 2012
CUI: C0023418
Disease: leukemia
leukemia 		0.010 GeneticVariation disease BEFREE While there has been great interest in ASXL1 due to its frequent mutation in leukemia, little is known about its paralog ASXL2, which is frequently mutated in acute myeloid leukemia patients bearing the RUNX1-RUNX1T1 (AML1-ETO) fusion. 28516957 2017
CUI: C0025202
Disease: melanoma
melanoma 		0.010 Biomarker disease BEFREE Truncation mutations of ASXL1 occur in colorectal cancers with microsatellite instability (MSI), malignant myeloid diseases, chronic lymphocytic leukaemia, head and neck squamous cell carcinoma, and liver, prostate and breast cancers; those of ASXL2 occur in prostate cancer, pancreatic cancer and breast cancer and those of ASXL3 are observed in melanoma. 23736028 2013
CUI: C0025500
Disease: Mesothelioma
Mesothelioma 		0.010 AlteredExpression disease BEFREE Finally, the protein levels of ASXL2, BAP1 and UBE2E enzymes are highly correlated in mesothelioma tumors suggesting the importance of this signaling axis for tumor suppression. 30349006 2018
CUI: C0220621
Disease: Childhood Acute Myeloid Leukemia
Childhood Acute Myeloid Leukemia 		0.010 GeneticVariation disease BEFREE Clinical features of pediatric acute myeloid leukemia (AML) patients with ASXL2 mutations remain unclear. 28063196 2017