NCOA2, nuclear receptor coactivator 2, 10499

N. diseases: 95; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023464
Disease: Acute biphenotypic leukemia
Acute biphenotypic leukemia
0.020 GeneticVariation disease BEFREE Acute mixed lineage leukemia with an inv(8)(p11q13) resulting in fusion of the genes for MOZ and TIF2. 9731070 1998
CUI: C0023464
Disease: Acute biphenotypic leukemia
Acute biphenotypic leukemia
0.020 GeneticVariation disease BEFREE Fusion of the MOZ and TIF2 genes by an inv (8) (p11q13) translocation has been identified in patients with acute mixed-lineage leukemia. 17697320 2007
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.030 AlteredExpression disease BEFREE The MOZ-TIF2 fusion is one of a new family of chromosomal rearrangements that associate HAT activity, transcriptional coactivation, and acute leukemia. 9731070 1998
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.030 GeneticVariation disease BEFREE The ETV6-NCOA2 fusion may define a novel subgroup of acute leukemia with T-lymphoid and myeloid features, which is associated with a high prevalence of NOTCH1 mutations. 18281529 2008
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.030 Biomarker disease BEFREE Pharmacological inhibition of KDM4C/PRMT1 suppresses transcription and transformation ability of MLL fusions and MOZ-TIF2, revealing a tractable aberrant epigenetic circuitry mediated by KDM4C and PRMT1 in acute leukemia. 26766589 2016
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.010 Biomarker disease BEFREE Consistent fusion of MOZ and TIF2 in AML with inv(8)(p11q13). 10459350 1999
CUI: C0023479
Disease: Acute myelomonocytic leukemia
Acute myelomonocytic leukemia
0.010 GeneticVariation disease BEFREE A further case of acute myelomonocytic leukemia with inv(8) chromosomal rearrangement and MOZ-NCOA2 gene fusion. 12964013 2003
CUI: C0279627
Disease: Adult Acute Myelomonocytic Leukemia
Adult Acute Myelomonocytic Leukemia
0.010 GeneticVariation disease BEFREE A further case of acute myelomonocytic leukemia with inv(8) chromosomal rearrangement and MOZ-NCOA2 gene fusion. 12964013 2003
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
0.030 Biomarker disease BEFREE This revealed a tumor suppressor role for Steroid Receptor Coactivator 2/Nuclear Receptor Coactivator 2 (Src-2/Ncoa2) in liver cancer. 28273073 2017
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
0.030 Biomarker disease BEFREE Correction: SRC-2-mediated coactivation of anti-tumorigenic target genes suppresses MYC-induced liver cancer. 29641518 2018
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
0.030 Biomarker disease BEFREE A Sleeping Beauty mutagenesis screen reveals a tumor suppressor role for Ncoa2/Src-2 in liver cancer. 22556267 2012
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
0.030 Biomarker disease BEFREE PAX3-NCOA2 fusion gene has a dual role in promoting the proliferation and inhibiting the myogenic differentiation of rhabdomyosarcoma cells. 24213582 2014
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
0.030 Biomarker disease BEFREE Awareness of this phenomenon and judicious application of molecular diagnostic testing for the HEY1-NCOA2 fusion are critical to avoid misclassification of mesenchymal chondrosarcoma as rhabdomyosarcoma, with potentially adverse patient impact. 29559236 2018
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
0.030 GeneticVariation disease BEFREE Recent studies have significantly impacted this classification with the emergence of three distinct new subtypes of rhabdomyosarcomas, namely rhabdomyosarcoma with MYOD1 mutations, rhabdomyosarcoma with TFCP2 fusions, and rhabdomyosarcoma with VGLL2/NCOA2 fusions. 31696361 2020
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement
0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma
0.020 Biomarker disease BEFREE This is the first evidence of occurrence of PAX3-NCOA2 in primary CNS ARMS. 31553442 2019
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma
0.020 Biomarker disease BEFREE Our results may explain why NCOA2 rearrangement is mainly found in embryonal rhabdomyosarcoma, which has a better prognosis than alveolar rhabdomyosarcoma, which expresses the PAX3-FOXO1A fusion gene. 24213582 2014
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.020 GeneticVariation disease BEFREE These results indicate that residue Q902 is involved in TIF2 and NH2/COOH interaction and that the Q to K mutation results in a mild impairment of AR function, which can explain the partial AIS phenotype of the patient. 15486055 2005
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.020 GeneticVariation disease BEFREE For the first time, we studied by immunohistochemistry and RT-PCR, the expression and distribution of these two coregulators during human testicular ontogenesis, in patients with altered AR signaling (Androgen insensitivity syndrome, AIS) and evaluated the functional impact of SRC-2 and HBO1 on AR signaling in a Sertoli cell context. 23707616 2013
CUI: C0206731
Disease: Angiofibroma
Angiofibroma
0.070 Biomarker disease BEFREE We designed an original DNA probe for detecting NCOA2 split signals on fluorescence in situ hybridization (FISH) and estimated its utility with 20 fibrovascular tumors: 4 each of STAs, solitary fibrous tumors (SFTs), and cellular angiofibromas and 3 each of low-grade myxofibrosarcomas, myxoid liposarcomas, and low-grade fibromyxoid sarcomas. 24856853 2014
CUI: C0206731
Disease: Angiofibroma
Angiofibroma
0.070 Biomarker disease BEFREE The morphologic features are distinct from other sarcomas associated with NCOA2 gene fusions, including mesenchymal chondrosarcoma, congenital/infantile spindle cell rhabdomyosarcoma, and soft tissue angiofibroma. 30179902 2018
CUI: C0206731
Disease: Angiofibroma
Angiofibroma
0.070 Biomarker disease BEFREE In conclusion, the AHRR-NCOA2 fusion is a frequent finding in soft tissue angiofibroma, while GTF2I-NCOA2 seems to be a rare genetic event. 28639284 2017
CUI: C0206731
Disease: Angiofibroma
Angiofibroma
0.070 Biomarker disease BEFREE Our findings indicate that, in spite of the recurrence of AHRR‑NCOA2 in angiofibroma of soft tissue, additional genetic events (or fusion genes) might be required for the development of this tumor. 27633981 2016
CUI: C0206731
Disease: Angiofibroma
Angiofibroma
0.070 GeneticVariation disease BEFREE Angiofibroma of soft tissue with fibrohistiocytic features and intratumor genetic heterogeneity of NCOA2 gene rearrangement revealed by chromogenic in situ hybridization: a case report. 24888778 2014
CUI: C0206731
Disease: Angiofibroma
Angiofibroma
0.070 GeneticVariation disease BEFREE Fusion of the AHRR and NCOA2 genes through a recurrent translocation t(5;8)(p15;q13) in soft tissue angiofibroma results in upregulation of aryl hydrocarbon receptor target genes. 22337624 2012