Citations for
1FBXL5, HERC2, IREB2
HERC2 Targets the Iron Regulator FBXL5 for Degradation and Modulates Iron Metabolism.
Moroishi T, Yamauchi T, Nishiyama M, Nakayama KI.
J Biol Chem 289(23):16430-41. doi: 10.1074/jbc.M113.541490. Epub 2014 Apr 28. 2014
2HERC2, USP33
Degradation of the deubiquitinating enzyme USP33 is mediated by p97 and the ubiquitin ligase HERC2.
Chan NC, den Besten W, Sweredoski MJ, Hess S, Deshaies RJ, Chan DC.
J Biol Chem 289(28):19789-98. doi: 10.1074/jbc.M114.569392. Epub 2014 May 22. 2014
3ATR, HERC2, USP20
HERC2-USP20 axis regulates DNA damage checkpoint through Claspin.
Yuan J, Luo K, Deng M, Li Y, Yin P, Gao B, Fang Y, Wu P, Liu T, Lou Z.
Nucleic Acids Res 42(21):13110-21. doi: 10.1093/nar/gku1034. Epub 2014 Oct 29. 2014
4CHEK1, CLSPN, HERC2, USP20
HERC2/USP20 coordinates CHK1 activation by modulating CLASPIN stability.
Zhu M, Zhao H, Liao J, Xu X.
Nucleic Acids Res 42(21):13074-81. doi: 10.1093/nar/gku978. Epub 2014 Oct 17. 2014
5HERC2, MRAGI
Mutation of HERC2 causes developmental delay with Angelman-like features.
Harlalka GV, Baple EL, Cross H, Kühnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, Mackay DJ, Chioza BA, Scheffner M, Rosa JL, Crosby AH.
J Med Genet 50(2):65-73. doi: 10.1136/jmedgenet-2012-101367. Epub 2012 Dec 14. 2013
6HERC2, HIF1AN, MAPK6, NEURL4, UBE3A
Identification and proteomic analysis of distinct UBE3A/E6AP protein complexes.
Martínez-Noël G, Galligan JT, Sowa ME, Arndt V, Overton TM, Harper JW, Howley PM.
Mol Cell Biol 32(15):3095-106. Epub 2012 May 29. 2012
7HERC2, MRAGI
A Homozygous Missense Mutation in HERC2 Associated with Global Developmental Delay and Autism Spectrum Disorder.
Puffenberger EG, Jinks RN, Wang H, Xin B, Fiorentini C, Sherman EA, Degrazio D, Shaw C, Sougnez C, Cibulskis K, Gabriel S, Kelley RI, Morton DH, Strauss KA.
Hum Mutat um Mutat. 2012 Oct 15. doi: 10.1002/humu.22237. [Epub ahead of print] 2012
8HERC2, RNF168
DNA damage-inducible SUMOylation of HERC2 promotes RNF8 binding via a novel SUMO-binding Zinc finger.
Danielsen JR, Povlsen LK, Villumsen BH, Streicher W, Nilsson J, Wikström M, Bekker-Jensen S, Mailand N.
J Cell Biol 197(2):179-87. doi: 10.1083/jcb.201106152. 2012
9CCP110, HERC2, NEURL4
Interaction proteomics identify NEURL4 and the HECT E3 ligase HERC2 as novel modulators of centrosome architecture.
Al-Hakim AK, Bashkurov M, Gingras AC, Durocher D, Pelletier L.
Mol Cell Proteomics 11(6):M111.014233. doi: 10.1074/mcp.M111.014233. Epub 2012 Jan 19. 2012
10HERC2, OCA2
A global view of the OCA2-HERC2 region and pigmentation.
Donnelly MP, Paschou P, Grigorenko E, Gurwitz D, Barta C, Lu RB, Zhukova OV, Kim JJ, Siniscalco M, New M, Li H, Kajuna SL, Manolopoulos VG, Speed WC, Pakstis AJ, Kidd JR, Kidd KK.
Hum Genet 131(5):683-96. doi: 10.1007/s00439-011-1110-x. Epub 2011 Nov 8. 2012
11CLSPN, HERC2
HERC2 Interacts with Claspin and regulates DNA origin firing and replication fork progression.
Izawa N, Wu W, Sato K, Nishikawa H, Kato A, Boku N, Itoh F, Ohta T.
Cancer Res 71(17):5621-5. Epub 2011 Jul 20. 2011
12HERC2, UBE3A
Physical and functional interaction of the HECT ubiquitin-protein ligases E6AP and HERC2.
Kühnle S, Kogel U, Glockzin S, Marquardt A, Ciechanover A, Matentzoglu K, Scheffner M.
J Biol Chem 286(22):19410-6. Epub 2011 Apr 14. 2011
13HERC2, OCA2, SLC24A4
Gene-gene interactions contribute to eye colour variation in humans.
Pośpiech E, Draus-Barini J, Kupiec T, Wojas-Pelc A, Branicki W.
J Hum Genet 56(6):447-55. doi: 10.1038/jhg.2011.38. Epub 2011 Apr 7. 2011
14HERC2
HERC2 coordinates ubiquitin-dependent assembly of DNA repair factors on damaged chromosomes.
Bekker-Jensen S, Rendtlew Danielsen J, Fugger K, Gromova I, Nerstedt A, Bartek J, Lukas J, Mailand N.
Nat Cell Biol 12(1):80-6; sup pp 1-12. Epub 2009 Dec 20. 2010
15HERC2
HERC2 is an E3 ligase that targets BRCA1 for degradation.
Wu W, Sato K, Koike A, Nishikawa H, Koizumi H, Venkitaraman AR, Ohta T.
Cancer Res 70(15):6384-92. Epub 2010 Jul 14. 2010
16HERC2, RNF8
HERC2 coordinates ubiquitin-dependent assembly of DNA repair factors on damaged chromosomes.
Bekker-Jensen S, Rendtlew Danielsen J, Fugger K, Gromova I, Nerstedt A, Lukas C, Bartek J, Lukas J, Mailand N.
Nat Cell Biol 12(1):80-6; sup pp 1-12. Epub 2009 Dec 20. Erratum in: Nat Cell Biol. 2010 Apr;12(4):412. Lukas, Claudia [added]. 2010
17HERC2, OCA2
Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue-brown eye color in the Japanese population.
Iida R, Ueki M, Takeshita H, Fujihara J, Nakajima T, Kominato Y, Nagao M, Yasuda T.
Cell Biochem Funct 27(5):323-7.PMID: 19472299 2009
18HERC2, MC1R, OCA2
Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype.
Branicki W, Brudnik U, Wojas-Pelc A.
Ann Hum Genet 73(2):160-70. Epub 2009 Feb 4.PMID: 19208107 2009
19HERC2, OCA2, HECD
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.
Kayser M, Liu F, Janssens AC, Rivadeneira F, Lao O, van Duijn K, Vermeulen M, Arp P, Jhamai MM, van Ijcken WF, den Dunnen JT, Heath S, Zelenika D, Despriet DD, Klaver CC, Vingerling JR, de Jong PT, Hofman A, Aulchenko YS, Uitterlinden AG, Oostra BA, van Duijn CM.
Am J Hum Genet 82(2):411-23. Epub 2008 Jan 25. 2008
20HERC2, HECD
A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.
Sturm RA, Duffy DL, Zhao ZZ, Leite FP, Stark MS, Hayward NK, Martin NG, Montgomery GW.
Am J Hum Genet 82(2):424-31. Epub 2008 Jan 24. 2008
21HECD, HERC2, OCA2, RABGGTA
Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.
Eiberg H, Troelsen J, Nielsen M, Mikkelsen A, Mengel-From J, Kjaer KW, Hansen L.
Hum Genet 123(2):177-87. Epub 2008 Jan 3. 2008
22SLC24A4, KITLG, TYR, MC1R, OCA2, HERC2, HECD
Genetic determinants of hair, eye and skin pigmentation in Europeans.
Sulem P, Gudbjartsson DF, Stacey SN, Helgason A, Rafnar T, Magnusson KP, Manolescu A, Karason A, Palsson A, Thorleifsson G, Jakobsdottir M, Steinberg S, P‡lsson S, Jonasson F, Sigurgeirsson B, Thorisdottir K, Ragnarsson R, Benediktsdottir KR, Aben KK, Kiemeney LA, Olafsson JH, Gulcher J, Kong A, Thorsteinsdottir U, Stefansson K.
Nat Genet 39(12):1443-52. Epub 2007 Oct 21. 2007
23HERC2
The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities.
Ji Y, et al.
Hum Mol Genet 8 : 533-542. 1999
24ABCLH, AS, BUD5SL, DEXI, HERC2, PWS
Large genomic duplicons map to sites of instability in the prader-Willi/Angelman syndrome chromosome region (15q11-q13).
Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter DH.
Hum Mol Genet 8(6):1025-37. 1999
25HERC2
Molecular characterization of radiation- and chemically induced mutations associated with neuromuscular tremors, runting, juvenile lethality, and sperm defects in jdf2 mice.
Walkowicz M, Ji Y, Ren X, Horsthemke B, Russell LB, Johnson D, Rinchik EM, Nicholls RD, Stubbs L.
Mamm Genome 10(9):870-8. 1999
26AS,D16F37S6,HERC2,HERC2P1,HERC2P2,HERC2P3,HERC2P4,HERC2P5,HERC2P6,HERC2P7
Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes.
Buiting K, Gross S, Ji Y, Senger G, Nicholls RD, Horsthemke B.
Cytogenet Cell Genet 81 : 247-253. 1998
27ADAMTS3, AKAP6, ALMS1, ANKRD28, AREL1, ARHGEF10, ARHGEF11, ARHGEF17, ARNT2, BAZ2A, CABIN1, CAST, CHD9, CIC, CLEC16A, CLOCK, CTNND1, DCLK1, DDX46, DIDO1, DNAH9, DNM3, DOCK3, DYNC1H1, ECM29, ENTPD4, EPB41L1, EZH1, FRMPD4, GCC2, HECW1, HERC2, HISPPD1, HUWE1, IGSF1, KAT6B, KHNYN, KIAA0319, KIAA0355, KIAA0379, KIF3B, KMT2B, LBA1, MADD, MAST4, MCF2L, MDN1, MTMR3, MYO6, N4BP3, NACAD, NRCAM, PCDH9, PCDHGA8, PCDHGC3, PDZD2, PER2, PFAS, PLEKHM1, PLXNB2, PRORP, PRUNE2, PTPRN2, RAPGEF2, RIMBP2, RIMS1, RIPOR2, RUSC2, SALL2, SEC16A, SEMA3C, SEMA3E, SETD1A, SFRS14, SNPH, SPECC1L, SPTBN2, SR140, SRCAP, SRRM2, SYNJ2, TECPR2, TLN2, TRIM66, TTC37, UBR2, WNK1, XPO6, ZBTB39, ZBTB5, ZFYVE16, ZFYVE26, ZMYM3, ZNF518A, ZNF609, ZNF629, ZNF646
Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A,Kotani H, Nomura N, Ohara O.
DNA Res 4(2):141-50. 1997
28HERC2, HERC2P1 ,HERC2P2, HERC2P3, HERC2P4, HERC2P5, PWS
A putative gene family in 15q11-13 and 16p11.2 : possible implications for Prader-Willi and Angelman syndromes.
Buiting K, et al.
Proc Natl Acad Sci U S A 89 : 5457-5461. 1992