POU3F2, POU class 3 homeobox 2, 5454

N. diseases: 40; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma 		0.100 AlteredExpression disease BEFREE Brn-2 has also been found to regulate the melanocytic phenotype with N-Oct-3 DNA binding activity elevated in malignant melanoma, however, its mode of action is yet to be defined. 11029584 2000
CUI: C0025202
Disease: melanoma
melanoma 		0.100 AlteredExpression disease LHGDN N Oct-3 is a master gene for central nervous system development but also for melanoma progression. 18996486 2009
CUI: C0025202
Disease: melanoma
melanoma 		0.100 Biomarker disease BEFREE N Oct-3 is a master gene for central nervous system development but also for melanoma progression. 18996486 2009
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 AlteredExpression disease BEFREE BRN2 and NFI may be key factors regulating the expression of FABP7 in certain RCC-derived cell lines. 21771320 2011
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 AlteredExpression disease BEFREE BRN2 and NFI may be key factors regulating the expression of FABP7 in certain RCC-derived cell lines. 21771320 2011
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.030 AlteredExpression phenotype BEFREE BRN2 is a POU domain transcription factor expressed in melanoma cell lines and is involved in proliferation and invasion, at least in part by regulating the expression of MITF-M and PAX3. 22290434 2012
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.030 Biomarker phenotype BEFREE BRN2 depletion left a cell population with intact proliferation and invasion in vitro; however metastatic growth was significantly reduced in the mouse xenograft model. 28883623 2017
CUI: C0025202
Disease: melanoma
melanoma 		0.100 AlteredExpression disease BEFREE BRN2 transcription factor is associated with the development of malignant melanoma. 30417795 2019
CUI: C0025202
Disease: melanoma
melanoma 		0.100 AlteredExpression disease BEFREE Brn-2 is normally expressed at high levels in melanoblasts and melanomas but only at low levels in normal melanocytes. 8873046 1996
CUI: C0025202
Disease: melanoma
melanoma 		0.100 Biomarker disease BEFREE Brn-2 C-terminal antibody Western blot analysis of melanoma cell line nuclear extracts prepared using a combination of sodium dodecyl sulphate and NP-40 detergent cell lysis procedures demonstrated the formation of N-Oct-5 DNA binding activity via N-terminal proteolytic clipping of Brn-2/N-Oct-3. 9508370 1998
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.020 GeneticVariation disease BEFREE A De Novo Missense Variant in POU3F2 Identified in a Child with Global Developmental Delay. 30199896 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.020 AlteredExpression disease BEFREE A number of genes that undergo radical changes in expression during this transition include candidates for schizophrenia (SZ), bipolar disorder (BD) and autism spectrum disorders (ASD) that function as transcription factors and chromatin modifiers, such as POU3F2 and ZNF804A, and genes coding for cell adhesion proteins implicated in these conditions including NRXN1 and NLGN1. 21915259 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.520 Biomarker disease PSYGENET A number of genes that undergo radical changes in expression during this transition include candidates for schizophrenia (SZ), bipolar disorder (BD) and autism spectrum disorders (ASD) that function as transcription factors and chromatin modifiers, such as POU3F2 and ZNF804A, and genes coding for cell adhesion proteins implicated in these conditions including NRXN1 and NLGN1. 21915259 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.520 AlteredExpression disease BEFREE A number of genes that undergo radical changes in expression during this transition include candidates for schizophrenia (SZ), bipolar disorder (BD) and autism spectrum disorders (ASD) that function as transcription factors and chromatin modifiers, such as POU3F2 and ZNF804A, and genes coding for cell adhesion proteins implicated in these conditions including NRXN1 and NLGN1. 21915259 2011
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 AlteredExpression disease BEFREE A number of genes that undergo radical changes in expression during this transition include candidates for schizophrenia (SZ), bipolar disorder (BD) and autism spectrum disorders (ASD) that function as transcription factors and chromatin modifiers, such as POU3F2 and ZNF804A, and genes coding for cell adhesion proteins implicated in these conditions including NRXN1 and NLGN1. 21915259 2011
CUI: C0025202
Disease: melanoma
melanoma 		0.100 Biomarker disease BEFREE A PAX3/BRN2 rheostat controls the dynamics of BRAF mediated MITF regulation in MITF<sup>high</sup> /AXL<sup>low</sup> melanoma. 30277012 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.040 Biomarker phenotype BEFREE All intravenously injected mice had metastases in the lung (4/4) and some of them had metastases in the brain (2/4) and other organs (1/4) as detected by GFP expression in fresh tissue. 9252650 1997
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 Biomarker group BEFREE All intravenously injected mice had metastases in the lung (4/4) and some of them had metastases in the brain (2/4) and other organs (1/4) as detected by GFP expression in fresh tissue. 9252650 1997
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.020 Biomarker disease BEFREE Androgen receptor repressed genes, such as BRN2 and PEG10, are also necessary for treatment-related neuroendocrine prostate cancer. 29396873 2018
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 Biomarker disease BEFREE Androgen receptor repressed genes, such as BRN2 and PEG10, are also necessary for treatment-related neuroendocrine prostate cancer. 29396873 2018
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.030 AlteredExpression disease BEFREE Antisense RNA-mediated inhibition of brn-2 gene expression in melanoma cells was associated with a change in morphology and loss of melanocytic and neural crest markers, including the melanocyte transcription factor microphthalmia and the TYRP pigmentation genes. 7651733 1995
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.010 Biomarker group BEFREE Between Oct 7, 2011, and Oct 31, 2017, there were 48 patients in Cohort B with new-onset or worsening neurological symptoms not caused by herpes simplex virus reactivation (median age 8·8 years [IQR 1·1-44·2]; n=27 male); 44 (92%) patients had antibody-confirmed autoimmune encephalitis (34 had NMDAR antibodies and ten had other antibodies). 30049614 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.040 GeneticVariation phenotype BEFREE Bone was the most common site of distant metastasis (14/23) followed by lungs (9/23), liver (4/23), brain (2/23), and adrenal (1/23). 30312217 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 AlteredExpression disease BEFREE Both SCLC cells and lung adenocarcinoma cells predominantly expressed isoform 2 of TTF1, and TTF1 promoter assays in SCLC cells revealed that the crucial region for activation of the promoter, which is adjacent to the transcription start site of TTF1 isoform 2, has potent FOX-, LHX-, and BRN2-binding sites. 23358112 2013
CUI: C0025202
Disease: melanoma
melanoma 		0.100 Biomarker disease BEFREE By promoting error-prone DNA damage repair via NHEJ and suppressing apoptosis of damaged cells, our results suggest that BRN2 contributes to the generation of melanomas with a high mutation burden. 30804224 2019