11p11.2 copy number variation syndrome (WP5348)

Homo sapiens

11p11.2 copy number variation syndrome (homo sapiens)


Esther Umwamikazi , Friederike Ehrhart , Ash Iyer , and Egon Willighagen


last edited

Discuss this pathway

Check for ongoing discussions or start your own.

Cited By

Are you planning to include this pathway in your next publication? See How to Cite and add a link here to your paper once it's online.


Homo sapiens


Diseases Rare Diseases


Pathway Ontology

disease pathway


Label Type Compact Identifier Comment
adenosine 3',5'-bisphosphate Metabolite pubchem.compound:159296
keratan 6'-sulfate Metabolite chebi:18331
Keratan Metabolite pubchem.compound:446715
3'-phospho-5'-adenylyl sulfate Metabolite drugbank:DB02902
GDP-β-L-fucose (in) Metabolite chebi:57273
GMP (out) Metabolite chebi:58115
GDP-β-L-fucose (out) Metabolite chebi:57273
GMP (in) Metabolite chebi:58115
ITGB2 GeneProduct ensembl:ENSG00000160255
RPS29 GeneProduct ensembl:ENSG00000213741
TNIP2 GeneProduct ensembl:ENSG00000168884
TSPAN8 GeneProduct ensembl:ENSG00000127324
USP30 GeneProduct ensembl:ENSG00000135093
INVS GeneProduct ensembl:ENSG00000119509
HLA-DMB GeneProduct ensembl:ENSG00000242574
LONRF3 GeneProduct ensembl:ENSG00000175556
CNTF None GeneProduct
ACCSL GeneProduct ensembl:ENSG00000205126
FHL2 GeneProduct ensembl:ENSG00000115641
PRDM11 GeneProduct ensembl:ENSG00000019485
GSKIP GeneProduct ensembl:ENSG00000100744
RBPJ GeneProduct ensembl:ENSG00000168214
ITGA6 GeneProduct ensembl:ENSG00000091409
CDKN1A GeneProduct ensembl:ENSG00000124762
TIMP1 GeneProduct ensembl:ENSG00000102265
KXD1 GeneProduct ensembl:ENSG00000105700
CD9 GeneProduct ensembl:ENSG00000010278
FOXE1 GeneProduct ensembl:ENSG00000178919
IFNA6 GeneProduct ensembl:ENSG00000120235
DDX39A GeneProduct ensembl:ENSG00000123136
SMN1 GeneProduct ensembl:ENSG00000172062
HLA-DRA GeneProduct ensembl:ENSG00000204287
HLA-DPB1 GeneProduct ensembl:28514442
GNB1 GeneProduct ensembl:ENSG00000078369
GATA4 GeneProduct ensembl:ENSG00000136574
ADAM10 GeneProduct ensembl:ENSG00000137845
HLA-DMA GeneProduct ensembl:ENSG00000204257
HOXB6 GeneProduct ensembl:ENSG00000108511
NUP88 GeneProduct ensembl:ENSG00000108559
RBCK1 GeneProduct ensembl:ENSG00000125826
BDKRB2 GeneProduct ensembl:ENSG00000168398
PARVG GeneProduct ensembl:ENSG00000138964
IQUB GeneProduct ensembl:ENSG00000164675
FABP4 GeneProduct ensembl:ENSG00000170323
RNF4 GeneProduct ensembl:ENSG00000063978
RPS27 GeneProduct ensembl:ENSG00000177954
ESR2 GeneProduct ensembl:ENSG00000140009
ANXA7 GeneProduct ensembl:ENSG00000138279
STK16 GeneProduct ensembl:ENSG00000115661
SLC35C1 GeneProduct ensembl:ENSG00000181830
HYOU1 GeneProduct ensembl:ENSG00000149428
CD4 GeneProduct ensembl:ENSG00000010610
CHST1 GeneProduct ensembl:ENSG00000175264
UQCRB GeneProduct ensembl:ENSG00000156467
ESR1 GeneProduct ensembl:ENSG00000091831
NIPAL1 GeneProduct ensembl:ENSG00000163293
EXT1 GeneProduct ensembl:ENSG00000182197
ALX1 GeneProduct ensembl:ENSG00000180318
VIRMA GeneProduct ensembl:ENSG00000164944
HNF4A GeneProduct ensembl:ENSG00000101076
MANSC1 GeneProduct ensembl:ENSG00000111261
ZNF331 GeneProduct ensembl:ENSG00000130844
TTC19 GeneProduct ensembl:ENSG00000011295
CRB1 GeneProduct ensembl:ENSG00000134376
HBEGF GeneProduct ensembl:ENSG00000113070
FBF1 GeneProduct ensembl:ENSG00000188878
ACP1 GeneProduct ensembl:ENSG00000143727
SYT13 GeneProduct ensembl:ENSG00000019505
ADGRA1 GeneProduct ensembl:ENSG00000197177
CD53 GeneProduct ensembl:ENSG00000143119
FFAR2 GeneProduct ensembl:ENSG00000126262
TK1 GeneProduct ensembl:ENSG00000167900
GFT2H4 GeneProduct ensembl:ENSG00000213780
OBSL1 GeneProduct ensembl:ENSG00000124006
FITM2 GeneProduct ensembl:ENSG00000197296
TNIP1 GeneProduct ensembl:ENSG00000145901
CUX1 GeneProduct ensembl:ENSG00000257923
MAOA GeneProduct ensembl:ENSG00000189221
BIRC2 GeneProduct ensembl:ENSG00000110330
NEK9 GeneProduct ensembl:ENSG00000119638
CRY2 GeneProduct ensembl:ENSG00000121671
GTF2H3 GeneProduct ensembl:ENSG00000111358
GRM2 GeneProduct ensembl:ENSG00000164082
ERCC3 GeneProduct ensembl:ENSG00000163161
HNRNPL GeneProduct ensembl:ENSG00000104824
CD151 GeneProduct ensembl:ENSG00000177697
CD19 GeneProduct ensembl:ENSG00000177455
ITGA4 GeneProduct ensembl:ENSG00000115232
TP53I11 GeneProduct ensembl:ENSG00000175274
VANGL1 GeneProduct ensembl:ENSG00000173218
GTF2H2C GeneProduct ensembl:ENSG00000183474
TMCO5A GeneProduct ensembl:ENSG00000166069
C11orf96 GeneProduct ensembl:ENSG00000187479
MARCH4 GeneProduct ensembl:ENSG00000144583
TCTN3 GeneProduct ensembl:ENSG00000119977
MAPK8IP1 GeneProduct ensembl:ENSG00000121653
FOXA1 GeneProduct ensembl:ENSG00000129514
TCTN2 GeneProduct ensembl:ENSG00000168778
GIMAP5 GeneProduct ensembl:ENSG00000196329
MHC-I GeneProduct ensembl:ENSG00000204520
RAB11A GeneProduct ensembl:ENSG00000103769
HOXA3 GeneProduct ensembl:ENSG00000105997
SOX2 GeneProduct ensembl:ENSG00000181449
LGALS3BP GeneProduct ensembl:ENSG00000108679
CD82 GeneProduct ensembl:ENSG00000085117
TMEM218 GeneProduct ensembl:ENSG00000150433
CD151 GeneProduct ensembl:ENSG00000177697
ACCS GeneProduct ensembl:ENSG00000110455
CD4 GeneProduct ensembl:ENSG00000010610
ACBD5 GeneProduct ensembl:ENSG00000107897
RBFA GeneProduct ensembl:ENSG00000101546
ATXN1 GeneProduct ensembl:ENSG00000124788
CCL1 GeneProduct ensembl:ENSG00000108702
HOXD3 GeneProduct ensembl:ENSG00000128652
OLFM4 GeneProduct ensembl:ENSG00000102837
CREB3 GeneProduct ensembl:ENSG00000107175
SMIM3 GeneProduct ensembl:ENSG00000256235
MS4A1 GeneProduct ensembl:ENSG00000156738
TSPAN18 GeneProduct ensembl:ENSG00000157570
HOXB13 GeneProduct ensembl:ENSG00000159184
RNF31 GeneProduct ensembl:ENSG00000092098
EXT2 GeneProduct ensembl:ENSG00000151348
ATE1 GeneProduct ensembl:ENSG00000107669
PHF21A GeneProduct ensembl:ENSG00000135365
NOP9 GeneProduct ensembl:ENSG00000196943
TMEM120A GeneProduct ensembl:ENSG00000189077
CXCL8 GeneProduct ensembl:ENSG00000169429
PFDN1 GeneProduct ensembl:ENSG00000113068
CHCHD2P9 GeneProduct ensembl:ENSG00000186940
ITGB1 GeneProduct ensembl:ENSG00000150093
TP53 GeneProduct ensembl:ENSG00000141510
ITGA3 GeneProduct ensembl:ENSG00000005884
SNCG GeneProduct ensembl:ENSG00000173267
SLC22A2 GeneProduct ensembl:ENSG00000112499
RIGI GeneProduct ensembl:ENSG00000107201
FOXA3 GeneProduct ensembl:ENSG00000170608
EMX1 GeneProduct ensembl:ENSG00000135638
CXCL9 GeneProduct ensembl:ENSG00000138755
YIPF3 GeneProduct ensembl:ENSG00000137207
H4C1 GeneProduct ensembl:ENSG00000278637
PRMT2 GeneProduct ensembl:ENSG00000160310
AFAP1 GeneProduct ensembl:ENSG00000196526
ELOC GeneProduct ensembl:ENSG00000154582
GNPDA1 GeneProduct ensembl:ENSG00000113552
ALX4 GeneProduct ensembl:ENSG00000052850
CHRM5 GeneProduct ensembl:ENSG00000184984
RBCK1 GeneProduct ensembl:ENSG00000125826
CD63 GeneProduct ensembl:ENSG00000135404
IL1RL1 GeneProduct ensembl:ENSG00000115602
C11orf94 GeneProduct ensembl:ENSG00000234776
PEX16 GeneProduct ensembl:ENSG00000121680
LARGE2 GeneProduct ensembl:ENSG00000165905
TMEM117 Protein ensembl:ENSG00000139173
Carbohydrate sulfotransferase 1 Protein uniprot:O43916
CDCA7L Protein ensembl:ENSG00000164649
Synaptotagmin-like protein 3 Protein uniprot:Q4VX76
Neurexin-1 Protein uniprot:Q9ULB1
Ankyrin repeat domain-containing protein 11 Protein uniprot:Q6UB99
Ras-related protein Rab-27B Protein uniprot:O00194
Ras related protein Rab-27A Protein uniprot:P51159
Ras related protein Rab-10 Protein uniprot:P61026
GDP-fucose transporter 1 Protein uniprot:Q96A29
JIP1 Protein uniprot:Q9UQF2
FREY1 Protein uniprot:C9JXX5
Peroxisomal membrane protein PEX16 Protein uniprot:Q9Y5Y5
PMP34 Protein uniprot:O43808
Pex3 Protein uniprot:P56589
Xylosyl- and glucuronyltransferase LARGE2 Protein uniprot:Q8N3Y3
PHD finger protein 21A Protein uniprot:Q96BD5


  1. Molecular analyses of the association of CD4 with two members of the transmembrane 4 superfamily, CD81 and CD82. Imai T, Kakizaki M, Nishimura M, Yoshie O. J Immunol. 1995 Aug 1;155(3):1229–39. PubMed Europe PMC Scholia
  2. Transmembrane-4 superfamily proteins CD81 (TAPA-1), CD82, CD63, and CD53 specifically associated with integrin alpha 4 beta 1 (CD49d/CD29). Mannion BA, Berditchevski F, Kraeft SK, Chen LB, Hemler ME. J Immunol. 1996 Sep 1;157(5):2039–47. PubMed Europe PMC Scholia
  3. Supramolecular complexes of MHC class I, MHC class II, CD20, and tetraspan molecules (CD53, CD81, and CD82) at the surface of a B cell line JY. Szöllósi J, Horejsí V, Bene L, Angelisová P, Damjanovich S. J Immunol. 1996 Oct 1;157(7):2939–46. PubMed Europe PMC Scholia
  4. Molecular cloning and characterization of human keratan sulfate Gal-6-sulfotransferase. Fukuta M, Inazawa J, Torii T, Tsuzuki K, Shimada E, Habuchi O. J Biol Chem. 1997 Dec 19;272(51):32321–8. PubMed Europe PMC Scholia
  5. The expression of the KAI1 gene, a tumor metastasis suppressor, is directly activated by p53. Mashimo T, Watabe M, Hirota S, Hosobe S, Miura K, Tegtmeyer PJ, et al. Proc Natl Acad Sci U S A. 1998 Sep 15;95(19):11307–11. PubMed Europe PMC Scholia
  6. The tetraspan protein CD82 is a resident of MHC class II compartments where it associates with HLA-DR, -DM, and -DO molecules. Hammond C, Denzin LK, Pan M, Griffith JM, Geuze HJ, Cresswell P. J Immunol. 1998 Oct 1;161(7):3282–91. PubMed Europe PMC Scholia
  7. CD19 is linked to the integrin-associated tetraspans CD9, CD81, and CD82. Horváth G, Serru V, Clay D, Billard M, Boucheix C, Rubinstein E. J Biol Chem. 1998 Nov 13;273(46):30537–43. PubMed Europe PMC Scholia
  8. Gamma-glutamyl transpeptidase, an ecto-enzyme regulator of intracellular redox potential, is a component of TM4 signal transduction complexes. Nichols TC, Guthridge JM, Karp DR, Molina H, Fletcher DR, Holers VM. Eur J Immunol. 1998 Dec;28(12):4123–9. PubMed Europe PMC Scholia
  9. Light-independent role of CRY1 and CRY2 in the mammalian circadian clock. Griffin EA Jr, Staknis D, Weitz CJ. Science. 1999 Oct 22;286(5440):768–71. PubMed Europe PMC Scholia
  10. Overexpression of CD82 on human T cells enhances LFA-1 / ICAM-1-mediated cell-cell adhesion: functional association between CD82 and LFA-1 in T cell activation. Shibagaki N, Hanada K i, Yamashita H, Shimada S, Hamada H. Eur J Immunol. 1999 Dec;29(12):4081–91. PubMed Europe PMC Scholia
  11. PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ. J Cell Biol. 2000 Mar 6;148(5):931–44. PubMed Europe PMC Scholia
  12. Importance of the major extracellular domain of CD9 and the epidermal growth factor (EGF)-like domain of heparin-binding EGF-like growth factor for up-regulation of binding and activity. Nakamura K, Mitamura T, Takahashi T, Kobayashi T, Mekada E. J Biol Chem. 2000 Jun 16;275(24):18284–90. PubMed Europe PMC Scholia
  13. The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter. Lühn K, Wild MK, Eckhardt M, Gerardy-Schahn R, Vestweber D. Nat Genet. 2001 May;28(1):69–72. PubMed Europe PMC Scholia
  14. Requirement of the JIP1 scaffold protein for stress-induced JNK activation. Whitmarsh AJ, Kuan CY, Kennedy NJ, Kelkar N, Haydar TF, Mordes JP, et al. Genes Dev. 2001 Sep 15;15(18):2421–32. PubMed Europe PMC Scholia
  15. The DNA sequence and analysis of human chromosome 6. Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, et al. Nature. 2003 Oct 23;425(6960):805–11. PubMed Europe PMC Scholia
  16. KAI1 COOH-terminal interacting tetraspanin (KITENIN), a member of the tetraspanin family, interacts with KAI1, a tumor metastasis suppressor, and enhances metastasis of cancer. Lee JH, Park SR, Chay KO, Seo YW, Kook H, Ahn KY, et al. Cancer Res. 2004 Jun 15;64(12):4235–43. PubMed Europe PMC Scholia
  17. The palmitoylation of metastasis suppressor KAI1/CD82 is important for its motility- and invasiveness-inhibitory activity. Zhou B, Liu L, Reddivari M, Zhang XA. Cancer Res. 2004 Oct 15;64(20):7455–63. PubMed Europe PMC Scholia
  18. Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. Brockington M, Torelli S, Prandini P, Boito C, Dolatshad NF, Longman C, et al. Hum Mol Genet. 2005 Mar 1;14(5):657–65. PubMed Europe PMC Scholia
  19. Regulation of LSD1 histone demethylase activity by its associated factors. Shi YJ, Matson C, Lan F, Iwase S, Baba T, Shi Y. Mol Cell. 2005 Sep 16;19(6):857–64. PubMed Europe PMC Scholia
  20. A human protein-protein interaction network: a resource for annotating the proteome. Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, et al. Cell. 2005 Sep 23;122(6):957–68. PubMed Europe PMC Scholia
  21. Large-scale mapping of human protein-protein interactions by mass spectrometry. Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. Mol Syst Biol. 2007;3:89. PubMed Europe PMC Scholia
  22. An atlas of combinatorial transcriptional regulation in mouse and man. Ravasi T, Suzuki H, Cannistraci CV, Katayama S, Bajic VB, Tan K, et al. Cell. 2010 Mar 5;140(5):744–52. PubMed Europe PMC Scholia
  23. Glycoprotein 90K, downregulated in advanced colorectal cancer tissues, interacts with CD9/CD82 and suppresses the Wnt/beta-catenin signal via ISGylation of beta-catenin. Lee JH, Bae JA, Lee JH, Seo YW, Kho DH, Sun EG, et al. Gut. 2010 Jul;59(7):907–17. PubMed Europe PMC Scholia
  24. A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, Stelzl U, Foulle R, Plassmann S, Zenkner M, Timm J, et al. Sci Signal. 2011 Sep 6;4(189):rs8. PubMed Europe PMC Scholia
  25. Toward an understanding of the protein interaction network of the human liver. Wang J, Huo K, Ma L, Tang L, Li D, Huang X, et al. Mol Syst Biol. 2011 Oct 11;7:536. PubMed Europe PMC Scholia
  26. Development and application of a DNA microarray-based yeast two-hybrid system. Suter B, Fontaine JF, Yildirimman R, Raskó T, Schaefer MH, Rasche A, et al. Nucleic Acids Res. 2013 Feb 1;41(3):1496–507. PubMed Europe PMC Scholia
  27. Human-chromatin-related protein interactions identify a demethylase complex required for chromosome segregation. Marcon E, Ni Z, Pu S, Turinsky AL, Trimble SS, Olsen JB, et al. Cell Rep. 2014 Jul 10;8(1):297–310. PubMed Europe PMC Scholia
  28. Using an in situ proximity ligation assay to systematically profile endogenous protein-protein interactions in a pathway network. Chen TC, Lin KT, Chen CH, Lee SA, Lee PY, Liu YW, et al. J Proteome Res. 2014 Dec 5;13(12):5339–46. PubMed Europe PMC Scholia
  29. A proteome-scale map of the human interactome network. Rolland T, Taşan M, Charloteaux B, Pevzner SJ, Zhong Q, Sahni N, et al. Cell. 2014 Nov 20;159(5):1212–26. PubMed Europe PMC Scholia
  30. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. Li X, Wang W, Wang J, Malovannaya A, Xi Y, Li W, et al. Mol Syst Biol. 2015 Jan 21;11(1):775. PubMed Europe PMC Scholia
  31. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. Gupta GD, Coyaud É, Gonçalves J, Mojarad BA, Liu Y, Wu Q, et al. Cell. 2015 Dec 3;163(6):1484–99. PubMed Europe PMC Scholia
  32. TspanC8 tetraspanins differentially regulate the cleavage of ADAM10 substrates, Notch activation and ADAM10 membrane compartmentalization. Jouannet S, Saint-Pol J, Fernandez L, Nguyen V, Charrin S, Boucheix C, et al. Cell Mol Life Sci. 2016 May;73(9):1895–915. PubMed Europe PMC Scholia
  33. Functional expression of a human GDP-L-fucose transporter in Escherichia coli. Förster-Fromme K, Schneider S, Sprenger GA, Albermann C. Biotechnol Lett. 2017 Feb;39(2):219–26. PubMed Europe PMC Scholia
  34. TIMP-1 and CD82, a promising combined evaluation marker for PDAC. Zhang J, Wu T, Zhan S, Qiao N, Zhang X, Zhu Y, et al. Oncotarget. 2017 Jan 24;8(4):6496–512. PubMed Europe PMC Scholia
  35. A novel transmembrane protein defines the endoplasmic reticulum stress-induced cell death pathway. Tamaki T, Kamatsuka K, Sato T, Morooka S, Otsuka K, Hattori M, et al. Biochem Biophys Res Commun. 2017 Apr 22;486(1):149–55. PubMed Europe PMC Scholia
  36. Systematic protein-protein interaction mapping for clinically relevant human GPCRs. Sokolina K, Kittanakom S, Snider J, Kotlyar M, Maurice P, Gandía J, et al. Mol Syst Biol. 2017 Mar 15;13(3):918. PubMed Europe PMC Scholia
  37. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K, et al. Nature. 2017 May 25;545(7655):505–9. PubMed Europe PMC Scholia
  38. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, Chen Y, Xiao T, Li W, Cato L, Zhang P, et al. Proc Natl Acad Sci U S A. 2017 Jun 27;114(26):E5207–15. PubMed Europe PMC Scholia
  39. The STUbL RNF4 regulates protein group SUMOylation by targeting the SUMO conjugation machinery. Kumar R, González-Prieto R, Xiao Z, Verlaan-de Vries M, Vertegaal ACO. Nat Commun. 2017 Nov 27;8(1):1809. PubMed Europe PMC Scholia
  40. VIRMA mediates preferential m6A mRNA methylation in 3’UTR and near stop codon and associates with alternative polyadenylation. Yue Y, Liu J, Cui X, Cao J, Luo G, Zhang Z, et al. Cell Discov. 2018 Feb 27;4:10. PubMed Europe PMC Scholia
  41. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. Giurato G, Nassa G, Salvati A, Alexandrova E, Rizzo F, Nyman TA, et al. Sci Data. 2018 Mar 6;5:180031. PubMed Europe PMC Scholia
  42. A protein-protein interaction map of the TNF-induced NF-κB signal transduction pathway. Van Quickelberghe E, De Sutter D, van Loo G, Eyckerman S, Gevaert K. Sci Data. 2018 Dec 18;5:180289. PubMed Europe PMC Scholia
  43. H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids. Nakamura K, Saredi G, Becker JR, Foster BM, Nguyen NV, Beyer TE, et al. Nat Cell Biol. 2019 Mar;21(3):311–8. PubMed Europe PMC Scholia
  44. Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development. Wang P, Yan F, Li Z, Yu Y, Parnell SE, Xiong Y. J Clin Invest. 2019 Jul 25;129(10):4393–407. PubMed Europe PMC Scholia
  45. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, Das J, Wierbowski SD, Liang J, Tran TN, Liang S, et al. Nat Commun. 2019 Sep 12;10(1):4141. PubMed Europe PMC Scholia
  46. The RNA-mediated estrogen receptor α interactome of hormone-dependent human breast cancer cell nuclei. Nassa G, Giurato G, Salvati A, Gigantino V, Pecoraro G, Lamberti J, et al. Sci Data. 2019 Sep 16;6(1):173. PubMed Europe PMC Scholia
  47. A reference map of the human binary protein interactome. Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, et al. Nature. 2020 Apr;580(7803):402–8. PubMed Europe PMC Scholia
  48. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, Guo Y, Su Y, Zhu M, Fu Y, Chi H, et al. J Immunol. 2020 Jul 1;205(1):168–80. PubMed Europe PMC Scholia
  49. RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation. Wu SF, Xia L, Shi XD, Dai YJ, Zhang WN, Zhao JM, et al. Proc Natl Acad Sci U S A. 2020 Jun 23;117(25):14395–404. PubMed Europe PMC Scholia
  50. UFMylation maintains tumour suppressor p53 stability by antagonizing its ubiquitination. Liu J, Guan D, Dong M, Yang J, Wei H, Liang Q, et al. Nat Cell Biol. 2020 Sep;22(9):1056–63. PubMed Europe PMC Scholia
  51. Comprehensive mapping of the human cytokine gene regulatory network. Santoso CS, Li Z, Lal S, Yuan S, Gan KA, Agosto LM, et al. Nucleic Acids Res. 2020 Dec 2;48(21):12055–73. PubMed Europe PMC Scholia
  52. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, Bruckner RJ, Navarrete-Perea J, Cannon JR, Baltier K, Gebreab F, et al. Cell. 2021 May 27;184(11):3022-3040.e28. PubMed Europe PMC Scholia
  53. OpenCell: Endogenous tagging for the cartography of human cellular organization. Cho NH, Cheveralls KC, Brunner AD, Kim K, Michaelis AC, Raghavan P, et al. Science. 2022 Mar 11;375(6585):eabi6983. PubMed Europe PMC Scholia
  54. Molecular cloning, characterization, and functional analysis of the uncharacterized C11orf96 gene. Yang H, Zhu J, Guo H, Tang A, Chen S, Zhang D, et al. BMC Vet Res. 2022 May 10;18(1):170. PubMed Europe PMC Scholia
  55. C11orf94/Frey is a key regulator for male fertility by controlling Izumo1 complex assembly. Contreras W, Wiesehöfer C, Schreier D, Leinung N, Peche P, Wennemuth G, et al. Sci Adv. 2022 Aug 12;8(32):eabo6049. PubMed Europe PMC Scholia