| 1 | NR2F2, del15QD
|
| Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
|
| Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A; Undiagnosed Diseases Network; Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E.
|
| Eur J Hum Genet. Oct;31(10):1117-1124. doi: 10.1038/s41431-023-01434-5. Epub 2023 Jul 27 2023
|
| 2 | BCL11A, NR2F2
|
| Transcription Factor BCL11A Regulates Schwann Cell Behavior During Peripheral Nerve Regeneration.
|
| Zhang Y, Shen Y, Zhao L, Zhao Q, Zhao L, Yi S.
|
| Mol Neurobiol. Sep;60(9):5352-5365. doi: 10.1007/s12035-023-03432-6. Epub 2023 Jun 14. 2023
|
| 3 | INSL3, NR2F2, NR5A1
|
| The nuclear receptors SF1 and COUP-TFII cooperate on the Insl3 promoter in Leydig cells.
|
| Di-Luoffo M, Pierre KJ, Robert NM, Girard MJ, Tremblay JJ.
|
| Reproduction. Jun 27;164(2):31-40. doi: 10.1530/REP-22-0109. 2022
|
| 4 | NR2F2
|
| NR2F2 plays a major role in insulin-induced epithelial-mesenchymal transition in breast cancer cells.
|
| Xia B, Hou L, Kang H, Chang W, Liu Y, Zhang Y, Ding Y
|
| BMC Cancer. Jul 6;20(1):626. doi: 10.1186/s12885-020-07107-6. 2020
|
| 5 | NR2F2, SRXX5
|
| The Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing NR2F2 Gene
|
| Carvalheira G, Malinverni AM, Moysés-Oliveira M, Ueta R, Cardili L, Monteagudo P, Mathez ALG, Verreschi IT, Maluf MA, Shida MEF, Leite MTC, Mazzotti D, Melaragno MI, Dias-da-Silva MR.
|
| J Endocr Soc. Aug 28;3(11):2107-2113. doi: 10.1210/js.2019-00241. Erratum in: J Endocr Soc. 2020 Mar 10;4(3):bvaa022. 2020
|
| 6 | NR2F2
|
| NR2F2 loss‑of‑function mutation is responsible for congenital bicuspid aortic valve
|
| Wang J, Abhinav P, Xu YJ, Li RG, Zhang M, Qiu XB, Di RM, Qiao Q, Li XM, Huang RT, Xue S, Yang YQ.
|
| Int J Mol Med. Apr;43(4):1839-1846. doi: 10.3892/ijmm.2019.4087. Epub 2019 Jan 31. 2019
|
| 7 | NR2F2, SRXX5
|
| Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.
|
| Bashamboo A, Eozenou C, Jorgensen A, Bignon-Topalovic J, Siffroi JP, Hyon C, Tar A, Nagy P, Sólyom J, Halász Z, Paye-Jaouen A, Lambert S, Rodriguez-Buritica D, Bertalan R, Martinerie L, Rajpert-De Meyts E, Achermann JC, McElreavey K.
|
| Am J Hum Genet 102(3):487-493. doi: 10.1016/j.ajhg.2018.01.021. Epub 2018 Feb 22. 2018
|
| 8 | NR2F2, del15QD
|
| Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features.
|
| Upadia J, Gonzales PR, Robin NH.
|
| Am J Med Genet A. Jun;176(6):1423-1426. doi: 10.1002/ajmg.a.38700. Epub 2018 Apr 16. 2018
|
| 9 | NR2F2
|
| A novel NR2F2 loss-of-function mutation predisposes to congenital heart defect.
|
| Qiao XH, Wang Q, Wang J, Liu XY, Xu YJ, Huang RT, Xue S, Li YJ, Zhang M, Qu XK, Li RG, Qiu XB, Yang YQ.
|
| Eur J Med Genet. Apr;61(4):197-203. doi: 10.1016/j.ejmg.2017.12.003. Epub 2017 Dec 6. 2018
|
| 10 | FGF2, NR2F2
|
| FGF2 Stimulates COUP-TFII Expression via the MEK1/2 Pathway to Inhibit Osteoblast Differentiation in C3H10T1/2 Cells.
|
| Lee MN, Kim JW, Oh SH, Jeong BC, Hwang YC, Koh JT.
|
| PLoS One 11(7):e0159234. doi: 10.1371/journal.pone.0159234. eCollection 2016.
2016
|
| 11 | NR2F2, TEK
|
| Angiopoietin receptor Tie2 is required for vein specification and maintenance via regulating COUP-TFII. Elife. 2016 Dec 22;5:e21032. doi: 10.7554/eLife.21032. PMID:
|
| Chu M, Li T, Shen B, Cao X, Zhong H, Zhang L, Zhou F, Ma W, Jiang H, Xie P, Liu Z, Dong N, Xu Y, Zhao Y, Xu G, Lu P, Luo J, Wu Q, Alitalo K, Koh GY, Adams RH, He Y.
|
| Elife Dec 22;5:e21032. doi: 10.7554/eLife.21032 2016
|
| 12 | DIH1, NR2F2
|
| De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia.
|
| High FA, Bhayani P, Wilson JM, Bult CJ, Donahoe PK, Longoni M.
|
| Am J Med Genet A Sep;170(9):2457-61. doi: 10.1002/ajmg.a.37830. Epub 2016 Jul 1. 2016
|
| 13 | NR2F2
|
| Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.
|
| Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LC, Swaminathan GJ, Bentham J, Arndt AK, Low J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O'Kelly IM, Salmon AP, Bu'lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, Fitzpatrick DF; UK10K Consortium, Wilson DI, Mital S, Hurles ME.
|
| Am J Hum Genet 94(4):574-85. doi: 10.1016/j.ajhg.2014.03.007.
2014
|
| 14 | CYP7A1, NR2F2
|
| The COUP-TFII variant lacking a DNA-binding domain inhibits the activation of the Cyp7a1 promoter through physical interaction with COUP-TFII.
|
| Yamazaki T, Suehiro J, Miyazaki H, Minami T, Kodama T, Miyazono K, Watabe T.
|
| Biochem J 452(2):345-57. doi: 10.1042/BJ20121200.
2013
|
| 15 | NR2F2, SMAD4, TGFB1
|
| COUP-TFII inhibits TGF-β-induced growth barrier to promote prostate tumorigenesis.
|
| Qin J, Wu SP, Creighton CJ, Dai F, Xie X, Cheng CM, Frolov A, Ayala G, Lin X, Feng XH, Ittmann MM, Tsai SJ, Tsai MJ, Tsai SY.
|
| Nature 493(7431):236-40. doi: 10.1038/nature11674. Epub 2012 Nov 28.
2013
|
| 16 | DIH1, DIH2, GATA4, NR2F2
|
| A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia.
|
| Arrington CB, Bleyl SB, Matsunami N, Bowles NE, Leppert TI, Demarest BL, Osborne K, Yoder BA, Byrne JL, Schiffman JD, Null DM, Digeronimo R, Rollins M, Faix R, Comstock J, Camp NJ, Leppert MF, Yost HJ, Brunelli L.
|
| Am J Med Genet A 158A(12):3137-47. doi: 10.1002/ajmg.a.35664. Epub 2012 Nov 19.
2012
|
| 17 | EYA1, NR2F2, WT1
|
| COUP-TFII is essential for metanephric mesenchyme formation and kidney precursor cell survival.
|
| Yu CT, Tang K, Suh JM, Jiang R, Tsai SY, Tsai MJ.
|
| Development 139(13):2330-9. doi: 10.1242/dev.076299.
2012
|
| 18 | DEL15QD, NR2F2
|
| 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects.
|
| Nakamura E, Makita Y, Okamoto T, Nagaya K, Hayashi T, Sugimoto M, Manabe H, Taketazu G, Kajino H, Fujieda K.
|
| Eur J Med Genet 54(3):354-6. Epub 2010 Dec 21.
2011
|
| 19 | NR2F2, NTS
|
| Characterization of promoter elements regulating the expression of the human neurotensin/neuromedin N gene.
|
| Wang X, Gulhati P, Li J, Dobner PR, Weiss H, Townsend CM Jr, Evers BM.
|
| J Biol Chem 286(1):542-54. Epub 2010 Oct 28.
2011
|
| 20 | CYP3A4, NR1I2, NR2F1, NR2F2, THRA, THRB
|
| Regulation of CYP3A4 by pregnane X receptor: The role of nuclear receptors competing for response element binding.
|
| Istrate MA, Nussler AK, Eichelbaum M, Burk O.
|
| Biochem Biophys Res Commun 393(4):688-93. Epub 2010 Feb 18.PMID: 20171174 2010
|
| 21 | NR2F2
|
| COUP-TFII regulates tumor growth and metastasis by modulating tumor angiogenesis.
|
| Qin J, Chen X, Xie X, Tsai MJ, Tsai SY.
|
| Proc Natl Acad Sci U S A 107(8):3687-92. Epub 2010 Feb 3.
2010
|
| 22 | NR2F1, NR2F2
|
| COUP-TFs regulate eye development by controlling factors essential for optic vesicle morphogenesis.
|
| Tang K, Xie X, Park JI, Jamrich M, Tsai S, Tsai MJ.
|
| Development 137(5):725-34.PMID: 20147377 2010
|
| 23 | NR2F1, NR2F2
|
| COUP-TFI and -TFII nuclear receptors are expressed in amacrine cells and play roles in regulating the differentiation of retinal progenitor cells.
|
| Inoue M, Iida A, Satoh S, Kodama T, Watanabe S.
|
| Exp Eye Res 90(1):49-56. Epub 2009 Sep 17.PMID: 19766631 2010
|
| 24 | NR2F2, PROX1
|
| COUP-TFII regulates the functions of Prox1 in lymphatic endothelial cells through direct interaction.
|
| Yamazaki T, Yoshimatsu Y, Morishita Y, Miyazono K, Watabe T.
|
| Genes Cells 14(3):425-34. Epub 2009 Feb 4.PMID: 19210544 2009
|
| 25 | NR2F2, PROX1
|
| Prox1 physically and functionally interacts with COUP-TFII to specify lymphatic endothelial cell fate.
|
| Lee S, Kang J, Yoo J, Ganesan SK, Cook SC, Aguilar B, Ramu S, Lee J, Hong YK.
|
| Blood 113(8):1856-9. Epub 2008 Sep 24.PMID: 18815287 2009
|
| 26 | NR2F2
|
| Deletion of the orphan nuclear receptor COUP-TFII in uterus leads to placental deficiency.
|
| Petit FG, Jamin SP, Kurihara I, Behringer RR, DeMayo FJ, Tsai MJ, Tsai SY.
|
| Proc Natl Acad Sci U S A 104(15):6293-8. Epub 2007 Apr 2. 2007
|
| 27 | NR2F2
|
| Suppression of Notch signalling by the COUP-TFII transcription factor regulates vein identity.
|
| You LR, Lin FJ, Lee CT, DeMayo FJ, Tsai MJ, Tsai SY.
|
| Nature 435(7038):98-104. 2005
|
| 28 | NR0B1, NR2F2, NR5A1
|
| Immunolocalization of nuclear transcription factors, DAX-1 and COUP-TF II, in the normal human ovary: correlation with adrenal 4 binding protein/steroidogenic factor-1 immunolocalization during the menstrual cycle.
|
| Sato Y, Suzuki T, Hidaka K, Sato H, Ito K, Ito S, Sasano H.
|
| J Clin Endocrinol Metab 88(7):3415-20. 2003
|
| 29 | CYP11A1, CYP11B1, CYP11B2, CYP17A1D, CYP19A1, GATA4, NR0B1, NR2F1, NR2F2, NR5A1, PCNA, COPS2
|
| DAX1 and its network partners: exploring complexity in development.
|
| Clipsham R, McCabe ER.
|
| Mol Genet Metab 80(1-2):81-120. 2003
|
| 30 | NR2F2
|
| The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development.
|
| Pereira FA, et al.
|
| Genes Dev 13(8):1037-49 1999
|
| 31 | MYOD1, NR2F2
|
| The orphan nuclear receptor, COUP-TF II, inhibits myogenesis by post-transcriptional regulation of MyoD function : COUP-TF II directly interacts with p300 and MyoD.
|
| Bailey P, Sartorelli V, Hamamori Y, Muscat GE.
|
| Nucleic Acids Res 26(23):5501-10. 1998
|
| 32 | NR2F1, NR2F2
|
| Isolation, characterization, and chromosomal localization of mouse and human COUP-TF I and II genes.
|
| Qiu Y, et al.
|
| Genomics 29 : 240-246. 1995
|
| 33 | NR2F2
|
| Chromosomal localization of the ARP-1 gene to 15q26.
|
| Modi WS, et al.
|
| (HGM11) Cytogenet Cell Genet 58 : 1995. 1991
|
| 34 | NR2F2
|
| Regulation of the apolipoprotein AI gene by ARP-1, a novel member of the steroid receptor superfamily.
|
| Ladias JAA, et al.
|
| Science 251 : 561-565. 1991
|