Citations for
1IRF6, MACF1, RBM15, SETD2, TFAP2A, ZFHX3, ZFHX4
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios
Bishop MR, Diaz Perez KK, Sun M, Ho S, Chopra P, Mukhopadhyay N, Hetmanski JB, Taub MA, Moreno-Uribe LM, Valencia-Ramirez LC, Restrepo Muņeton CP, Wehby G, Hecht JT, Deleyiannis F, Weinberg SM, Wu-Chou YH, Chen PK, Brand H, Epstein MP, Ruczinski I, Murray JC, Beaty TH, Feingold E, Lipinski RJ, Cutler DJ, Marazita ML, Leslie EJ
Am J Hum Genet. Jul 2;107(1):124-136. doi: 10.1016/j.ajhg.2020.05.018. Epub 2020 Jun 22. 2020
2ACRBP, SETD2
The histone methyltransferase SETD2 is required for expression of acrosin-binding protein 1 and protamines and essential for spermiogenesis in mice.
Zuo X, Rong B, Li L, Lv R, Lan F, Tong MH.
J Biol Chem. Jun 15;293(24):9188-9197. doi: 10.1074/jbc.RA118.002851. Epub 2018 May 1. 2018
3H2AZ1, NKX2-4, SETD2
Brain-specific deletion of histone variant H2A.z results in cortical neurogenesis defects and neurodevelopmental disorder.
Shen T, Ji F, Wang Y, Lei X, Zhang D, Jiao J.
Nucleic Acids Res. Mar 16;46(5):2290-2307. doi: 10.1093/nar/gkx1295. 2018
4MYOG, SETD2
Histone methyltransferase Setd2 is critical for the proliferation and differentiation of myoblasts.
Yi X, Tao Y, Lin X, Dai Y, Yang T, Yue X, Jiang X, Li X, Jiang DS, Andrade KC, Chang J.
Biochim Biophys Acta Mol Cell Res 1864(4):697-707. doi: 10.1016/j.bbamcr.2017.01.012. Epub 2017 Jan 24. 2017
5ASH1L, SETD2
Kinetic characterization of human histone H3 lysine 36 methyltransferases, ASH1L and SETD2.
Eram MS, Kuznetsova E, Li F, Lima-Fernandes E, Kennedy S, Chau I, Arrowsmith CH, Schapira M, Vedadi M.
Biochim Biophys Acta 1850(9):1842-8. doi: 10.1016/j.bbagen.2015.05.013. Epub 2015 May 19. 2015
6SETD2
SETD2-dependent histone H3K36 trimethylation is required for homologous recombination repair and genome stability.
Pfister SX, Ahrabi S, Zalmas LP, Sarkar S, Aymard F, Bachrati CZ, Helleday T, Legube G, La Thangue NB, Porter AC, Humphrey TC.
Cell Rep 7(6):2006-18. doi: 10.1016/j.celrep.2014.05.026. Epub 2014 Jun 12. 2014
7SETD2, STOL2
Mutations in SETD2 cause a novel overgrowth condition.
Luscan A, Laurendeau I, Malan V, Francannet C, Odent S, Giuliano F, Lacombe D, Touraine R, Vidaud M, Pasmant E, Cormier-Daire V.
J Med Genet 51(8):512-7. doi: 10.1136/jmedgenet-2014-102402. Epub 2014 May 22. 2014
8SETD2
Identification of functional cooperative mutations of SETD2 in human acute leukemia.
Zhu X, He F, Zeng H, Ling S, Chen A, Wang Y, Yan X, Wei W, Pang Y, Cheng H, Hua C, Zhang Y, Yang X, Lu X, Cao L, Hao L, Dong L, Zou W, Wu J, Li X, Zheng S, Yan J, Zhou J, Zhang L, Mi S, Wang X, Zhang L, Zou Y, Chen Y, Geng Z, Wang J, Zhou J, Liu X, Wang J, Yuan W, Huang G, Cheng T, Wang QF.
Nat Genet 46(3):287-93. doi: 10.1038/ng.2894. Epub 2014 Feb 9. 2014
9SETD2, SSRP1
Histone methyltransferase SETD2 coordinates FACT recruitment with nucleosome dynamics during transcription.
Carvalho S, Raposo AC, Martins FB, Grosso AR, Sridhara SC, Rino J, Carmo-Fonseca M, de Almeida SF.
Nucleic Acids Res 41(5):2881-93. doi: 10.1093/nar/gks1472. Epub 2013 Jan 15. 2013
10SETD2
Evidence for a tumour suppressor function of SETD2 in human breast cancer: a new hypothesis.
Newbold RF, Mokbel K.
Anticancer Res 30(9):3309-11. 2010
11SETD2
The mRNA expression of SETD2 in human breast cancer: correlation with clinico-pathological parameters.
Al Sarakbi W, Sasi W, Jiang WG, Roberts T, Newbold RF, Mokbel K.
BMC Cancer 9:290. 2009
12SETD2
Histone methyltransferase protein SETD2 interacts with p53 and selectively regulates its downstream genes.
Xie P, Tian C, An L, Nie J, Lu K, Xing G, Zhang L, He F.
Cell Signal 20(9):1671-8. Epub 2008 Jun 27. 2008
13IWS1, SETD2, SUPT6H
The Iws1:Spt6:CTD complex controls cotranscriptional mRNA biosynthesis and HYPB/Setd2-mediated histone H3K36 methylation.
Yoh SM, Lucas JS, Jones KA.
Genes Dev 22(24):3422-34.PMID: 19141475 2008
14SETD2
Solution structure of the Set2-Rpb1 interacting domain of human Set2 and its interaction with the hyperphosphorylated C-terminal domain of Rpb1.
Li M, Phatnani HP, Guan Z, Sage H, Greenleaf AL, Zhou P.
Proc Natl Acad Sci U S A 102(49):17636-41. Epub 2005 Nov 28. 2005
15SETD2
Identification and characterization of a novel human histone H3 lysine 36-specific methyltransferase.
Sun XJ, Wei J, Wu XY, Hu M, Wang L, Wang HH, Zhang QH, Chen SJ, Huang QH, Chen Z.
J Biol Chem 280(42):35261-71. Epub 2005 Aug 22. 2005
16SETD2
Identification of the full-length huntingtin- interacting protein p231HBP/HYPB as a DNA-binding factor.
Rega S, Stiewe T, Chang DI, Pollmeier B, Esche H, Bardenheuer W, Marquitan G, Putzer BM.
Mol Cell Neurosci 18(1):68-79. 2001
17PRPF40A, SETD2, PRPF40B
Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis.
Passani LA, Bedford MT, Faber PW, McGinnis KM, Sharp AH, Gusella JF, Vonsattel JP, MacDonald ME.
Hum Mol Genet 9(14):2175-82. 2000
18FBL, HTT, PRPF40A, SETD2
Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles.
Hilditch-Maguire P, Trettel F, Passani LA, Auerbach A, Persichetti F, MacDonald ME.
Hum Mol Genet 9(19):2789-97. 2000
19AP2A1, AP2A2, C15orf63, CXorf27, FICD, HTT, PRPF40A, PRPF40B, SETD2, SYMPK, ZDHHC17
Huntingtin interacts with a family of WW domain proteins.
Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME.
Hum Mol Genet 7(9):1463-74. 1998