15q11q13 copy number variation (WP5407)

Homo sapiens

Deletions or duplications of the region 15q11q13 are rare genetic copy number variations that have an increased risk of neuropsychiatric disorders. The most reported breakpoints are between chr15:29161368-30375967 (BP3-4) or chr15:29161368-32462776 (BP 3-5) (GRCh37). The chromosomal positions are taken from Kirov et al. 2014. 10.1016/j.biopsych.2013.07.022 and literature cited there.

Authors

Friederike Ehrhart , Egon Willighagen , Pierre Klemmer , and Eric Weitz

Activity

last edited

Discuss this pathway

Check for ongoing discussions or start your own.

Cited In

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.

Organisms

Homo sapiens

Communities

Annotations

Pathway Ontology

disease pathway

Disease Ontology

chromosomal deletion syndrome chromosomal duplication syndrome

Participants

Label Type Compact URI Comment
glutamate Metabolite chebi:14321
Na+ Metabolite chebi:29101
Ni2+ Metabolite chebi:49786
Mg2+ Metabolite chebi:18420
Ba2+ Metabolite chebi:37136
Ca2+ Metabolite chebi:29108
Zn2+ Metabolite chebi:27363
Mn2+ Metabolite chebi:29035
Acetylcholine Metabolite hmdb:HMDB00895
MIR211 GeneProduct ensembl:ENSG00000207702
SLF2 GeneProduct uniprot:Q8IX21
SMC5 GeneProduct uniprot:Q8IY18
EID3 GeneProduct uniprot:Q8N140
NSMCE1 GeneProduct uniprot:Q8WV22
NSMCE2 GeneProduct uniprot:Q96MF7
NSMCE3 GeneProduct uniprot:Q96MG7
SMC6 GeneProduct uniprot:Q96SB8
SLF1 GeneProduct uniprot:Q9BQI6
Claudins GeneProduct interpro:IPR004031
SERPINH1 GeneProduct ensembl:ENSG00000149257
RIC3 GeneProduct ensembl:ENSG00000166405
MYZAP GeneProduct ensembl:ENSG00000263155
CHRNA7 GeneProduct ensembl:ENSG00000175344
RELA GeneProduct ensembl:ENSG00000173039
FANCD2 GeneProduct ensembl:ENSG00000144554
NSMCE3 GeneProduct ensembl:ENSG00000185115 NDNL2, MAGEG1
TJP3 GeneProduct ensembl:ENSG00000105289
FANCI GeneProduct ensembl:ENSG00000140525
TJP1 GeneProduct ensembl:ENSG00000104067
CDC42BPB GeneProduct ensembl:ENSG00000198752
GJD3 GeneProduct ensembl:ENSG00000183153
OTUD7A GeneProduct ensembl:ENSG00000169918
MITF GeneProduct ensembl:ENSG00000187098
STX1A GeneProduct ensembl:ENSG00000106089
TRPM1 GeneProduct ensembl:ENSG00000134160
GJC2 GeneProduct ensembl:ENSG00000198835 GJA12
SPEF1 GeneProduct ensembl:ENSG00000101222
F-actin GeneProduct interpro:IPR004000
STX1B GeneProduct ensembl:ENSG00000099365
GOLGA8T GeneProduct ensembl:ENSG00000261247
STXBP1 GeneProduct ensembl:ENSG00000136854
TRPM3 GeneProduct ensembl:ENSG00000083067
HDAC1 GeneProduct ensembl:ENSG00000116478
GOLGA8H GeneProduct ensembl:ENSG00000261794
OCLN GeneProduct ensembl:ENSG00000197822
KLF13 GeneProduct ensembl:ENSG00000169926
NECAB3 GeneProduct ensembl:ENSG00000125967
FAN1 GeneProduct ensembl:ENSG00000198690
UBN1 GeneProduct ensembl:ENSG00000118900
SIN3A GeneProduct ensembl:ENSG00000169375
CGN GeneProduct ensembl:ENSG00000143375
CALM GeneProduct ensembl:ENSG00000198668
ANKRD2 GeneProduct ensembl:ENSG00000165887
CCL5 GeneProduct ensembl:ENSG00000271503 RANTES
GJA1 GeneProduct ensembl:ENSG00000152661
APP GeneProduct ensembl:ENSG00000142192
CANX GeneProduct ensembl:ENSG00000127022 NACHO?
GOLGA8R GeneProduct ensembl:ENSG00000186399
DNMBP GeneProduct ensembl:ENSG00000107554
ENTREP2 GeneProduct ensembl:ENSG00000104059 FAM189A1, KIAA0574
KAT2B GeneProduct ensembl:ENSG00000114166 PCAF, P300/CBP-associated factor
GOLGA8Q GeneProduct ensembl:ENSG00000178115
TJP2 GeneProduct ensembl:ENSG00000119139
MTMR10 GeneProduct ensembl:ENSG00000166912
LYPD6 GeneProduct ensembl:ENSG00000187123
GOLGA8J GeneProduct ensembl:ENSG00000179938
CXADR GeneProduct ensembl:ENSG00000154639
APBA2 GeneProduct ensembl:ENSG00000034053
CREBBP GeneProduct ensembl:ENSG00000005339

References

  1. Direct association of occludin with ZO-1 and its possible involvement in the localization of occludin at tight junctions. Furuse M, Itoh M, Hirase T, Nagafuchi A, Yonemura S, Tsukita S, et al. J Cell Biol. 1994 Dec;127(6 Pt 1):1617–26. PubMed Europe PMC Scholia
  2. The tight junction protein ZO-1 establishes a link between the transmembrane protein occludin and the actin cytoskeleton. Fanning AS, Jameson BJ, Jesaitis LA, Anderson JM. J Biol Chem. 1998 Nov 6;273(45):29745–53. PubMed Europe PMC Scholia
  3. Regulation of X11L-dependent amyloid precursor protein metabolism by XB51, a novel X11L-binding protein. Lee DS, Tomita S, Kirino Y, Suzuki T. J Biol Chem. 2000 Jul 28;275(30):23134–8. PubMed Europe PMC Scholia
  4. The Sp1-like protein BTEB3 inhibits transcription via the basic transcription element box by interacting with mSin3A and HDAC-1 co-repressors and competing with Sp1. Kaczynski J, Zhang JS, Ellenrieder V, Conley A, Duenes T, Kester H, et al. J Biol Chem. 2001 Sep 28;276(39):36749–56. PubMed Europe PMC Scholia
  5. The coxsackievirus and adenovirus receptor is a transmembrane component of the tight junction. Cohen CJ, Shieh JT, Pickles RJ, Okegawa T, Hsieh JT, Bergelson JM. Proc Natl Acad Sci U S A. 2001 Dec 18;98(26):15191–6. PubMed Europe PMC Scholia
  6. Functional interaction between coactivators CBP/p300, PCAF, and transcription factor FKLF2. Song CZ, Keller K, Murata K, Asano H, Stamatoyannopoulos G. J Biol Chem. 2002 Mar 1;277(9):7029–36. PubMed Europe PMC Scholia
  7. Evidence for a functional interaction between cingulin and ZO-1 in cultured cells. D’Atri F, Nadalutti F, Citi S. J Biol Chem. 2002 Aug 2;277(31):27757–64. PubMed Europe PMC Scholia
  8. Molecular cloning, functional expression, and tissue distribution of a novel human gap junction-forming protein, connexin-31.9. Interaction with zona occludens protein-1. Nielsen PA, Beahm DL, Giepmans BNG, Baruch A, Hall JE, Kumar NM. J Biol Chem. 2002 Oct 11;277(41):38272–83. PubMed Europe PMC Scholia
  9. Transcriptional regulation of the melanoma prognostic marker melastatin (TRPM1) by MITF in melanocytes and melanoma. Miller AJ, Du J, Rowan S, Hershey CL, Widlund HR, Fisher DE. Cancer Res. 2004 Jan 15;64(2):509–16. PubMed Europe PMC Scholia
  10. Connexin47, connexin29 and connexin32 co-expression in oligodendrocytes and Cx47 association with zonula occludens-1 (ZO-1) in mouse brain. Li X, Ionescu AV, Lynn BD, Lu S, Kamasawa N, Morita M, et al. Neuroscience. 2004;126(3):611–30. PubMed Europe PMC Scholia
  11. Ric-3 promotes functional expression of the nicotinic acetylcholine receptor alpha7 subunit in mammalian cells. Williams ME, Burton B, Urrutia A, Shcherbatko A, Chavez-Noriega LE, Cohen CJ, et al. J Biol Chem. 2005 Jan 14;280(2):1257–63. PubMed Europe PMC Scholia
  12. RIC-3 enhances functional expression of multiple nicotinic acetylcholine receptor subtypes in mammalian cells. Lansdell SJ, Gee VJ, Harkness PC, Doward AI, Baker ER, Gibb AJ, et al. Mol Pharmacol. 2005 Nov;68(5):1431–8. PubMed Europe PMC Scholia
  13. Cdc42 GEF Tuba regulates the junctional configuration of simple epithelial cells. Otani T, Ichii T, Aono S, Takeichi M. J Cell Biol. 2006 Oct 9;175(1):135–46. PubMed Europe PMC Scholia
  14. Domain-swapped dimerization of the second PDZ domain of ZO2 may provide a structural basis for the polymerization of claudins. Wu J, Yang Y, Zhang J, Ji P, Du W, Jiang P, et al. J Biol Chem. 2007 Dec 7;282(49):35988–99. PubMed Europe PMC Scholia
  15. Domain-swapped dimerization of ZO-1 PDZ2 generates specific and regulatory connexin43-binding sites. Chen J, Pan L, Wei Z, Zhao Y, Zhang M. EMBO J. 2008 Aug 6;27(15):2113–23. PubMed Europe PMC Scholia
  16. Characterization of the ubinuclein protein as a new member of the nuclear and adhesion complex components (NACos). Aho S, Lupo J, Coly PA, Sabine A, Castellazzi M, Morand P, et al. Biol Cell. 2009 Jun;101(6):319–34. PubMed Europe PMC Scholia
  17. TRPM1 forms ion channels associated with melanin content in melanocytes. Oancea E, Vriens J, Brauchi S, Jun J, Splawski I, Clapham DE. Sci Signal. 2009 May 12;2(70):ra21. PubMed Europe PMC Scholia
  18. Myozap, a novel intercalated disc protein, activates serum response factor-dependent signaling and is required to maintain cardiac function in vivo. Seeger TS, Frank D, Rohr C, Will R, Just S, Grund C, et al. Circ Res. 2010 Mar 19;106(5):880–90. PubMed Europe PMC Scholia
  19. Insights into regulated ligand binding sites from the structure of ZO-1 Src homology 3-guanylate kinase module. Lye MF, Fanning AS, Su Y, Anderson JM, Lavie A. J Biol Chem. 2010 Apr 30;285(18):13907–17. PubMed Europe PMC Scholia
  20. Identification of KIAA1018/FAN1, a DNA repair nuclease recruited to DNA damage by monoubiquitinated FANCD2. MacKay C, Déclais AC, Lundin C, Agostinho A, Deans AJ, MacArtney TJ, et al. Cell. 2010 Jul 9;142(1):65–76. PubMed Europe PMC Scholia
  21. Lys11-linked ubiquitin chains adopt compact conformations and are preferentially hydrolyzed by the deubiquitinase Cezanne. Bremm A, Freund SMV, Komander D. Nat Struct Mol Biol. 2010 Aug;17(8):939–47. PubMed Europe PMC Scholia
  22. FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair. Liu T, Ghosal G, Yuan J, Chen J, Huang J. Science. 2010 Aug 6;329(5992):693–6. PubMed Europe PMC Scholia
  23. MAGE-RING protein complexes comprise a family of E3 ubiquitin ligases. Doyle JM, Gao J, Wang J, Yang M, Potts PR. Mol Cell. 2010 Sep 24;39(6):963–74. PubMed Europe PMC Scholia
  24. Cdc42-dependent formation of the ZO-1/MRCKβ complex at the leading edge controls cell migration. Huo L, Wen W, Wang R, Kam C, Xia J, Feng W, et al. EMBO J. 2011 Feb 16;30(4):665–78. PubMed Europe PMC Scholia
  25. Transient receptor potential melastatin 1 (TRPM1) is an ion-conducting plasma membrane channel inhibited by zinc ions. Lambert S, Drews A, Rizun O, Wagner TFJ, Lis A, Mannebach S, et al. J Biol Chem. 2011 Apr 8;286(14):12221–33. PubMed Europe PMC Scholia
  26. Multi-tasking role of the mechanosensing protein Ankrd2 in the signaling network of striated muscle. Belgrano A, Rakicevic L, Mittempergher L, Campanaro S, Martinelli VC, Mouly V, et al. PLoS One. 2011;6(10):e25519. PubMed Europe PMC Scholia
  27. OTU deubiquitinases reveal mechanisms of linkage specificity and enable ubiquitin chain restriction analysis. Mevissen TET, Hospenthal MK, Geurink PP, Elliott PR, Akutsu M, Arnaudo N, et al. Cell. 2013 Jul 3;154(1):169–84. PubMed Europe PMC Scholia
  28. Functional interaction between Lypd6 and nicotinic acetylcholine receptors. Arvaniti M, Jensen MM, Soni N, Wang H, Klein AB, Thiriet N, et al. J Neurochem. 2016 Sep;138(6):806–20. PubMed Europe PMC Scholia
  29. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SCS, Wells OS, et al. J Clin Invest. 2016 Aug 1;126(8):2881–92. PubMed Europe PMC Scholia
  30. Sperm Flagellar 1 Binds Actin in Intestinal Epithelial Cells and Contributes to Formation of Filopodia and Lamellipodia. Tapia R, Perez-Yepez EA, Carlino MJ, Karandikar UC, Kralicek SE, Estes MK, et al. Gastroenterology. 2019 Dec;157(6):1544-1555.e3. PubMed Europe PMC Scholia
  31. NACHO Engages N-Glycosylation ER Chaperone Pathways for α7 Nicotinic Receptor Assembly. Kweon HJ, Gu S, Witham E, Dhara M, Yu H, Mandon ED, et al. Cell Rep. 2020 Aug 11;32(6):108025. PubMed Europe PMC Scholia