8p23.1 copy number variation syndrome (WP5346)

Homo sapiens

Pathways of relevant genes on the chromosome 8p23.1 duplication / deletion syndrome. Patients with a deletion often suffer from diaphragmatic hernia (CDH) and cardiac defects.


Rens Eikelboom , Egon Willighagen , Friederike Ehrhart , and Alex Pico


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Homo sapiens


Diseases Rare Diseases


Disease Ontology

chromosomal duplication syndrome chromosomal deletion syndrome

Pathway Ontology

disease pathway


Label Type Compact URI Comment
ADP Metabolite chebi:456216
[thioredoxin]-disulfide Metabolite chebi:50058
L-methionyl-[protein] Metabolite chebi:16044
NADPH Metabolite chebi:57783
[thioredoxin]-dithiol Metabolite chebi:44120
Lipopolysaccharide Metabolite hmdb:HMDB0254119
2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA Metabolite chebi:167181
L-tyrosyl-[protein] Metabolite chebi:46858
H2O Metabolite chebi:15377
nicotinamide Metabolite chebi:17154
O-phospho-L-tyrosyl-[protein] Metabolite chebi:82620
Talazoparib Metabolite chembl.compound:3137320
H+ Metabolite chebi:15378
Squalene Metabolite chebi:15440
Mg2+ Metabolite chebi:18420
NAD+ Metabolite chebi:15846
ATP Metabolite chebi:30616
H+ Metabolite chebi:15378
NADP+ Metabolite chebi:58349
Diphosphate Metabolite chebi:33019
2 (2E,6E)-farnesyl diphosphate Metabolite chebi:175763
3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA Metabolite chebi:157695
H+ Metabolite chebi:15378
L-methionyl-(S)-S-oxide-[protein] Metabolite chebi:29950
4-O-(ADP-D-ribosyl)-L-aspartyl residue Metabolite chebi:138102
RNA Metabolite chebi:33697
XAV939 Metabolite wikidata:Q27132250
5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA Metabolite chebi:136412
L-aspartyl Metabolite chebi:29958
TERF1 GeneProduct ensembl:ENSG00000147601
CTNNB1 GeneProduct ensembl:ENSG00000168036
MFHAS1 GeneProduct ensembl:ENSG00000147324
PPP1R3B GeneProduct ensembl:ENSG00000173281
CSTA GeneProduct ensembl:ENSG00000121552
MTMR6 GeneProduct ensembl:ENSG00000139505
MTMR7 GeneProduct ensembl:ENSG00000003987
TBX5 GeneProduct ensembl:ENSG00000089225
SGPL1 GeneProduct ensembl:ENSG00000166224
NKX6-1 GeneProduct ensembl:ENSG00000163623
PRSS51 GeneProduct ensembl:ENSG00000253649
C8orf49 GeneProduct ensembl:ENSG00000255394
GATA4 GeneProduct ensembl:ENSG00000136574
TERF1 GeneProduct ensembl:ENSG00000147601
HEPACAM2 GeneProduct ensembl:ENSG00000188175
FAM167A GeneProduct ensembl:ENSG00000154319
MCRS1 GeneProduct ensembl:ENSG00000187778
MEPE GeneProduct ensembl:ENSG00000152595
C8orf74 GeneProduct ensembl:ENSG00000171060
MTMR9 GeneProduct ensembl:ENSG00000104643
TLR2 GeneProduct ensembl:ENSG00000137462
MTMR8 GeneProduct ensembl:ENSG00000102043
TNKS GeneProduct ensembl:ENSG00000173273
XKR6 GeneProduct ensembl:ENSG00000171044
TLR4 GeneProduct ensembl:ENSG00000136869
RP1L1 GeneProduct ensembl:ENSG00000183638
BMP1 GeneProduct ensembl:ENSG00000168487
CLDN23 GeneProduct ensembl:ENSG00000253958
SLC35G5 GeneProduct ensembl:ENSG00000177710
BLK GeneProduct ensembl:ENSG00000136573
NEIL2 GeneProduct ensembl:ENSG00000154328
MSRA GeneProduct ensembl:ENSG00000175806
MAPK1 GeneProduct ensembl:ENSG00000100030
FDFT1 GeneProduct ensembl:ENSG00000079459
SLC2A4 GeneProduct ensembl:ENSG00000181856
DEFB136 GeneProduct ensembl:ENSG00000205884
FCGR2A GeneProduct ensembl:ENSG00000143226
CTSB GeneProduct ensembl:ENSG00000164733
NUMA1 GeneProduct ensembl:ENSG00000137497
SOX7 GeneProduct ensembl:ENSG00000171056
TERT GeneProduct ensembl:ENSG00000164362
AP-1 GeneProduct interpro:IPR000837
FCGR2B GeneProduct ensembl:ENSG00000072694
MAPK3 GeneProduct ensembl:ENSG00000102882
ERI1 GeneProduct ensembl:ENSG00000104626
C8orf12 GeneProduct ensembl:ENSG00000184608
S100A10 GeneProduct ensembl:ENSG00000197747
PINX1 GeneProduct ensembl:ENSG00000258724
FCGR2C GeneProduct ensembl:ENSG00000244682
CTSD GeneProduct ensembl:ENSG00000117984
SLBP GeneProduct ensembl:ENSG00000163950
RAF1 GeneProduct ensembl:ENSG00000132155
AXIN1 GeneProduct ensembl:ENSG00000103126
PRSS55 GeneProduct ensembl:ENSG00000184647
PDX1 GeneProduct ensembl:ENSG00000139515
HSPD1 GeneProduct ensembl:ENSG00000144381
CGAS GeneProduct ensembl:ENSG00000164430
DEFB135 GeneProduct ensembl:ENSG00000205883
DEFB134 GeneProduct ensembl:ENSG00000205882
FCGR2A GeneProduct ensembl:ENSG00000143226
FCGR2B GeneProduct ensembl:ENSG00000072694
FCGR2C GeneProduct ensembl:ENSG00000244682
CGAS GeneProduct ensembl:ENSG00000164430


  1. In vivo and in vitro specificity of protein tyrosine kinases for immunoglobulin G receptor (FcgammaRII) phosphorylation. Bewarder N, Weinrich V, Budde P, Hartmann D, Flaswinkel H, Reth M, et al. Mol Cell Biol. 1996 Sep;16(9):4735–43. PubMed Europe PMC Scholia
  2. Activation of cathepsin B, secreted by a colorectal cancer cell line requires low pH and is mediated by cathepsin D. van der Stappen JW, Williams AC, Maciewicz RA, Paraskeva C. Int J Cancer. 1996 Aug 7;67(4):547–54. PubMed Europe PMC Scholia
  3. The role of Gly-4 of human cystatin A (stefin A) in the binding of target proteinases. Characterization by kinetic and equilibrium methods of the interactions of cystatin A Gly-4 mutants with papain, cathepsin B, and cathepsin L. Estrada S, Nycander M, Hill NJ, Craven CJ, Waltho JP, Björk I. Biochemistry. 1998 May 19;37(20):7551–60. PubMed Europe PMC Scholia
  4. Human procathepsin B interacts with the annexin II tetramer on the surface of tumor cells. Mai J, Finley RL Jr, Waisman DM, Sloane BF. J Biol Chem. 2000 Apr 28;275(17):12806–12. PubMed Europe PMC Scholia
  5. Crystal structure of human squalene synthase. A key enzyme in cholesterol biosynthesis. Pandit J, Danley DE, Schulte GK, Mazzalupo S, Pauly TA, Hayward CM, et al. J Biol Chem. 2000 Sep 29;275(39):30610–7. PubMed Europe PMC Scholia
  6. Tankyrase is a golgi-associated mitogen-activated protein kinase substrate that interacts with IRAP in GLUT4 vesicles. Chi NW, Lodish HF. J Biol Chem. 2000 Dec 8;275(49):38437–44. PubMed Europe PMC Scholia
  7. Role for the related poly(ADP-Ribose) polymerases tankyrase 1 and 2 at human telomeres. Cook BD, Dynek JN, Chang W, Shostak G, Smith S. Mol Cell Biol. 2002 Jan;22(1):332–42. PubMed Europe PMC Scholia
  8. Inhibition of MEPE cleavage by Phex. Guo R, Rowe PSN, Liu S, Simpson LG, Xiao ZS, Quarles LD. Biochem Biophys Res Commun. 2002 Sep 13;297(1):38–45. PubMed Europe PMC Scholia
  9. Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. Bowne SJ, Daiger SP, Malone KA, Heckenlively JR, Kennan A, Humphries P, et al. Mol Vis. 2003 Apr 24;9:129–37. PubMed Europe PMC Scholia
  10. Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9. Mochizuki Y, Majerus PW. Proc Natl Acad Sci U S A. 2003 Aug 19;100(17):9768–73. PubMed Europe PMC Scholia
  11. Dehydroepiandrosterone 7-hydroxylase CYP7B: predominant expression in primate hippocampus and reduced expression in Alzheimer’s disease. Yau JLW, Rasmuson S, Andrew R, Graham M, Noble J, Olsson T, et al. Neuroscience. 2003;121(2):307–14. PubMed Europe PMC Scholia
  12. A 3’ exonuclease that specifically interacts with the 3’ end of histone mRNA. Dominski Z, Yang X cui, Kaygun H, Dadlez M, Marzluff WF. Mol Cell. 2003 Aug;12(2):295–305. PubMed Europe PMC Scholia
  13. Human MCRS2, a cell-cycle-dependent protein, associates with LPTS/PinX1 and reduces the telomere length. Song H, Li Y, Chen G, Xing Z, Zhao J, Yokoyama KK, et al. Biochem Biophys Res Commun. 2004 Apr 16;316(4):1116–23. PubMed Europe PMC Scholia
  14. SMAD-mediated modulation of YY1 activity regulates the BMP response and cardiac-specific expression of a GATA4/5/6-dependent chick Nkx2.5 enhancer. Lee KH, Evans S, Ruan TY, Lassar AB. Development. 2004 Oct;131(19):4709–23. PubMed Europe PMC Scholia
  15. Characterization of interactions between PinX1 and human telomerase subunits hTERT and hTR. Banik SSR, Counter CM. J Biol Chem. 2004 Dec 10;279(50):51745–8. PubMed Europe PMC Scholia
  16. Regulation of sphingosine-1-phosphate lyase gene expression by members of the GATA family of transcription factors. Oskouian B, Mendel J, Shocron E, Lee MA Jr, Fyrst H, Saba JD. J Biol Chem. 2005 May 6;280(18):18403–10. PubMed Europe PMC Scholia
  17. NuMA is a major acceptor of poly(ADP-ribosyl)ation by tankyrase 1 in mitosis. Chang W, Dynek JN, Smith S. Biochem J. 2005 Oct 15;391(Pt 2):177–84. PubMed Europe PMC Scholia
  18. Sox7 Is an independent checkpoint for beta-catenin function in prostate and colon epithelial cells. Guo L, Zhong D, Lau S, Liu X, Dong XY, Sun X, et al. Mol Cancer Res. 2008 Sep;6(9):1421–30. PubMed Europe PMC Scholia
  19. MTMR9 increases MTMR6 enzyme activity, stability, and role in apoptosis. Zou J, Chang SC, Marjanovic J, Majerus PW. J Biol Chem. 2009 Jan 23;284(4):2064–71. PubMed Europe PMC Scholia
  20. Human PinX1 mediates TRF1 accumulation in nucleolus and enhances TRF1 binding to telomeres. Yoo JE, Oh BK, Park YN. J Mol Biol. 2009 May 22;388(5):928–40. PubMed Europe PMC Scholia
  21. Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction. Borowiec M, Liew CW, Thompson R, Boonyasrisawat W, Hu J, Mlynarski WM, et al. Proc Natl Acad Sci U S A. 2009 Aug 25;106(34):14460–5. PubMed Europe PMC Scholia
  22. Tankyrase inhibition stabilizes axin and antagonizes Wnt signalling. Huang SMA, Mishina YM, Liu S, Cheung A, Stegmeier F, Michaud GA, et al. Nature. 2009 Oct 1;461(7264):614–20. PubMed Europe PMC Scholia
  23. Myotubularin-related protein (MTMR) 9 determines the enzymatic activity, substrate specificity, and role in autophagy of MTMR8. Zou J, Zhang C, Marjanovic J, Kisseleva MV, Majerus PW, Wilson MP. Proc Natl Acad Sci U S A. 2012 Jun 12;109(24):9539–44. PubMed Europe PMC Scholia
  24. Poly-ADP ribosylation of Miki by tankyrase-1 promotes centrosome maturation. Ozaki Y, Matsui H, Asou H, Nagamachi A, Aki D, Honda H, et al. Mol Cell. 2012 Sep 14;47(5):694–706. PubMed Europe PMC Scholia
  25. MASL1 induces erythroid differentiation in human erythropoietin-dependent CD34+ cells through the Raf/MEK/ERK pathway. Kumkhaek C, Aerbajinai W, Liu W, Zhu J, Uchida N, Kurlander R, et al. Blood. 2013 Apr 18;121(16):3216–27. PubMed Europe PMC Scholia
  26. Roles of the nucleotide sugar transporters (SLC35 family) in health and disease. Song Z. Mol Aspects Med. 2013;34(2–3):590–600. PubMed Europe PMC Scholia
  27. Proteasome regulation by ADP-ribosylation. Cho-Park PF, Steller H. Cell. 2013 Apr 25;153(3):614–27. PubMed Europe PMC Scholia
  28. GTP binding controls complex formation by the human ROCO protein MASL1. Dihanich S, Civiero L, Manzoni C, Mamais A, Bandopadhyay R, Greggio E, et al. FEBS J. 2014 Jan;281(1):261–74. PubMed Europe PMC Scholia
  29. MFHAS1 Is Associated with Sepsis and Stimulates TLR2/NF-κB Signaling Pathway Following Negative Regulation. Zhong J, Shi QQ, Zhu MM, Shen J, Wang HH, Ma D, et al. PLoS One. 2015 Nov 24;10(11):e0143662. PubMed Europe PMC Scholia
  30. Disease Model of GATA4 Mutation Reveals Transcription Factor Cooperativity in Human Cardiogenesis. Ang YS, Rivas RN, Ribeiro AJS, Srivas R, Rivera J, Stone NR, et al. Cell. 2016 Dec 15;167(7):1734-1749.e22. PubMed Europe PMC Scholia
  31. Ubiquitylation of MFHAS1 by the ubiquitin ligase praja2 promotes M1 macrophage polarization by activating JNK and p38 pathways. Zhong J, Wang H, Chen W, Sun Z, Chen J, Xu Y, et al. Cell Death Dis. 2017 May 4;8(5):e2763. PubMed Europe PMC Scholia
  32. MFHAS1 suppresses TLR4 signaling pathway via induction of PP2A C subunit cytoplasm translocation and inhibition of c-Jun dephosphorylation at Thr239. Shi Q, Xiong B, Zhong J, Wang H, Ma D, Miao C. Mol Immunol. 2017 Aug;88:79–88. PubMed Europe PMC Scholia
  33. Nuclear cGAS suppresses DNA repair and promotes tumorigenesis. Liu H, Zhang H, Wu X, Ma D, Wu J, Wang L, et al. Nature. 2018 Nov;563(7729):131–6. PubMed Europe PMC Scholia
  34. Dissecting the molecular determinants of clinical PARP1 inhibitor selectivity for tankyrase1. Ryan K, Bolaňos B, Smith M, Palde PB, Cuenca PD, VanArsdale TL, et al. J Biol Chem. 2021;296:100251. PubMed Europe PMC Scholia
  35. Soluble expression and purification of human β-defensin DEFB136 in Escherichia coli and identification of its bioactivity. Liu H, Diao H, Hou J, Yu H, Wen H. Protein Expr Purif. 2021 Dec;188:105968. PubMed Europe PMC Scholia