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: 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.060 Biomarker group BEFREE In this issue of Cancer Cell, Huntly and colleagues report a striking difference in the ability of two leukemia-associated fusion proteins, MOZ-TIF2 and BCR-ABL, to transform myeloid progenitor populations. 15607956 2004
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.060 Biomarker group BEFREE In this issue of Cancer Cell, Huntly and colleagues report a striking difference in the ability of two leukemia-associated fusion proteins, MOZ-TIF2 and BCR-ABL, to transform myeloid progenitor populations. 15607956 2004
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 Biomarker disease BEFREE MOZ-TIF2-transduced progenitors could be serially replated in methylcellulose cultures and continuously propagated in liquid culture, and resulted in an acute myeloid leukemia in vivo that could be serially transplanted. 15607963 2004
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 Biomarker disease BEFREE In summary, our results indicate that disruption of the normal function of CBP and CBP-dependent activators is an important feature of MOZ-TIF2 action in AML. 15657427 2005
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.380 AlteredExpression disease BEFREE AR coactivators SRC-1 and TIF-2 are up-regulated in tissue specimens obtained from patients who failed prostate cancer endocrine therapy. 15663989 2004
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.080 AlteredExpression disease BEFREE AR coactivators SRC-1 and TIF-2 are up-regulated in tissue specimens obtained from patients who failed prostate cancer endocrine therapy. 15663989 2004
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.380 AlteredExpression disease BEFREE Cofactors SRC-1, RAC3, p300/CBP, TIF-2, and Tip60 are upregulated in advanced prostate cancer. 16598769 2006
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.080 AlteredExpression disease BEFREE Cofactors SRC-1, RAC3, p300/CBP, TIF-2, and Tip60 are upregulated in advanced prostate cancer. 16598769 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE ACTR and AR, but not TIF2, are required for proliferation of androgen-dependent and -independent cells, and for tumor growth. 16921507 2006
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.380 AlteredExpression disease BEFREE Depletion of TIF2 reduced expression of AR-induced target genes and slowed proliferation of AR-dependent and AR-independent prostate cancer cells. 17079484 2006
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.080 AlteredExpression disease BEFREE Depletion of TIF2 reduced expression of AR-induced target genes and slowed proliferation of AR-dependent and AR-independent prostate cancer cells. 17079484 2006
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.060 AlteredExpression group BEFREE In agreement with our in vitro findings, the highest expression of TIF2 was found in patients whose cancer relapsed after androgen ablation therapy, supporting the idea that AR blockade might activate pathways that lead to stimulation of AR-dependent and AR-independent proliferation of prostate epithelium. 17079484 2006
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.060 AlteredExpression group BEFREE In agreement with our in vitro findings, the highest expression of TIF2 was found in patients whose cancer relapsed after androgen ablation therapy, supporting the idea that AR blockade might activate pathways that lead to stimulation of AR-dependent and AR-independent proliferation of prostate epithelium. 17079484 2006
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.010 GeneticVariation disease BEFREE The mutant receptor hGRalphaF737L causes generalized glucocorticoid resistance because of decreased affinity for the ligand, marked delay in nuclear translocation, and/or abnormal interaction with the glucocorticoid receptor-interacting protein 1 coactivator. 17635946 2007
CUI: C0023418
Disease: leukemia
leukemia 		0.060 Biomarker disease BEFREE Although leukemia-derived fusion proteins such as MOZ-TIF2 promote self-renewal of leukemic stem cells, recent studies indicate that murine MOZ and MORF are important for proper development of hematopoietic and neurogenic progenitors, respectively, thereby highlighting the importance of epigenetic integrity in safeguarding stem cell identity. 17694082 2007
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.050 Biomarker disease BEFREE Although leukemia-derived fusion proteins such as MOZ-TIF2 promote self-renewal of leukemic stem cells, recent studies indicate that murine MOZ and MORF are important for proper development of hematopoietic and neurogenic progenitors, respectively, thereby highlighting the importance of epigenetic integrity in safeguarding stem cell identity. 17694082 2007
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: C2826025
Disease: Mixed phenotype acute leukemia
Mixed phenotype acute 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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 Biomarker disease BEFREE To our knowledge, this is the eighth overall and the fourth childhood case of acute myeloid leukemia with inv(8) (p11q13) with MOZ-TIF2 fusion. 17805042 2007
CUI: C0220621
Disease: Childhood Acute Myeloid Leukemia
Childhood Acute Myeloid Leukemia 		0.010 GeneticVariation disease BEFREE Childhood acute myeloid leukemia with hemophagocytosis by the blasts and inv(8)(p11q13) with MOZ-TIF2 fusion transcripts. 17805042 2007
CUI: C0876991
Disease: Histiocytosis haematophagic
Histiocytosis haematophagic 		0.010 Biomarker disease BEFREE Childhood acute myeloid leukemia with hemophagocytosis by the blasts and inv(8)(p11q13) with MOZ-TIF2 fusion transcripts. 17805042 2007
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.320 AlteredExpression group LHGDN Steroid receptor coactivator 2 is required for female fertility and mammary morphogenesis: insights from the mouse, relevance to the human. 18174919 2007
CUI: C0023418
Disease: leukemia
leukemia 		0.060 GeneticVariation disease LHGDN 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: C0023418
Disease: leukemia
leukemia 		0.060 Biomarker disease BEFREE In addition, ETV6-NCOA2 leukemia shows a high frequency of heterozygous activating NOTCH1 mutations, which disrupt the heterodimerization or the PEST domains. 18281529 2008