11p11.2 copy number variation syndrome (WP5348)

Homo sapiens

The molecular pathways of genes located at the region 11p11.2. A deletion in 11p11.2 can cause the Potocki-Shaffer syndrome (MIM # 601224) which is characterised by malformations in the heart, kidney and urinary tract. The chromosomal location was taken from Kirov et al. 2014 and literature cited there (chr11:43940000-46020000, GRCh37).


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


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Homo sapiens


Diseases Rare Diseases


Pathway Ontology

disease pathway


Label Type Compact URI Comment
Mg2+ Metabolite chebi:18420
3-O-{[(1→4)-β-D-GlcA-(1→4)-α-D-GlcNAc](n)-(1→4)-β-D-GlcA-(1→3)-β-D-Gal-(1→3)-β-D-Gal-(1→4)-β-D-Xyl}-L-seryl-[protein] Metabolite chebi:132415
adenosine 3',5'-bisphosphate Metabolite pubchem.compound:159296
keratan 6'-sulfate Metabolite chebi:18331
Alpha-Dystroglycan Metabolite pubchem.compound:405235951
Keratan Metabolite pubchem.compound:446715
an N1-methyladenosine in mRNA Metabolite chebi:74491
O2 Metabolite chebi:15379
2-oxoglutarate Metabolite chebi:16810
3-O-{α-D-GlcNAc-[(1→4)-β-D-GlcA-(1→4)-α-D-GlcNAc](n)-(1→4)-β-D-GlcA-(1→3)-β-D-Gal-(1→3)-β-D-Gal-(1→4)-β-D-Xyl}-L-seryl-[protein] Metabolite chebi:132416
formaldehyde Metabolite chebi:16842
Fe2+ Metabolite chebi:29033
L-vinylglycine Metabolite pubchem.compound:156126
succinate Metabolite chebi:30031
UDP Metabolite chebi:58223
AMP residue Metabolite chebi:74411
CO2 Metabolite chebi:16526
UDP-N-acetyl-alpha-D-glucosamine Metabolite chebi:57705
3'-phospho-5'-adenylyl sulfate Metabolite drugbank:DB02902
GDP-b-L-fucose (in) Metabolite chebi:57273
GMP (out) Metabolite chebi:58115
GDP-b-L-fucose (out) Metabolite chebi:57273
GMP (in) Metabolite chebi:58115
ITGB2 GeneProduct ensembl:ENSG00000160255
SHH GeneProduct ensembl:ENSG00000164690
CLOCK GeneProduct ensembl:ENSG00000134852
REST GeneProduct ensembl:ENSG00000084093
CHST6 GeneProduct ensembl:ENSG00000183196
HLA-DMB GeneProduct ensembl:ENSG00000242574
PRDM11 GeneProduct ensembl:ENSG00000019485
GLI3 GeneProduct ensembl:ENSG00000106571
ITGA6 GeneProduct ensembl:ENSG00000091409
TIMP1 GeneProduct ensembl:ENSG00000102265
LEF1 GeneProduct ensembl:ENSG00000138795
IGSF8 GeneProduct ensembl:ENSG00000162729
SPPL2C GeneProduct ensembl:ENSG00000185294
HLA-DRA GeneProduct ensembl:ENSG00000204287
HLA-DMA GeneProduct ensembl:ENSG00000204257
IZUMO1 GeneProduct ensembl:ENSG00000182264
NDST1 GeneProduct ensembl:ENSG00000070614
SLC35C1 GeneProduct ensembl:ENSG00000181830
CD4 GeneProduct ensembl:ENSG00000010610
CHST1 GeneProduct ensembl:ENSG00000175264
CD63 GeneProduct ensembl:ENSG00000135404
HBEGF GeneProduct ensembl:ENSG00000113070
SYT13 GeneProduct ensembl:ENSG00000019505
CD53 GeneProduct ensembl:ENSG00000143119
Syndecan GeneProduct pfam:PF01034
CRY2 GeneProduct ensembl:ENSG00000121671
ALKBH3 GeneProduct ensembl:ENSG00000166199
CD19 GeneProduct ensembl:ENSG00000177455
ITGA4 GeneProduct ensembl:ENSG00000115232
TP53I11 GeneProduct ensembl:ENSG00000175274
VANGL1 GeneProduct ensembl:ENSG00000173218
C11orf96 GeneProduct ensembl:ENSG00000187479
MAPK8IP1 GeneProduct ensembl:ENSG00000121653
LGALS3BP GeneProduct ensembl:ENSG00000108679
CD82 GeneProduct ensembl:ENSG00000085117 KAI1
CD151 GeneProduct ensembl:ENSG00000177697
ACCS GeneProduct ensembl:ENSG00000110455
B4GALT4 GeneProduct ensembl:ENSG00000121578
BMAL1 GeneProduct uniprot:O00327
B4GAT1 GeneProduct ensembl:ENSG00000174684
SDCBP GeneProduct ensembl:ENSG00000137575
MS4A1 GeneProduct ensembl:ENSG00000156738
TSPAN18 GeneProduct ensembl:ENSG00000157570
EXT2 GeneProduct ensembl:ENSG00000151348
PHF21A GeneProduct ensembl:ENSG00000135365
B3GNT7 GeneProduct ensembl:ENSG00000156966
ITGB1 GeneProduct ensembl:ENSG00000150093
TP53 GeneProduct ensembl:ENSG00000141510
ITGA3 GeneProduct ensembl:ENSG00000005884
EXT1 GeneProduct ensembl:ENSG00000182197
ALX4 GeneProduct ensembl:ENSG00000052850
CD63 GeneProduct ensembl:ENSG00000135404
NRXN1 GeneProduct ensembl:ENSG00000179915
C11orf94 GeneProduct ensembl:ENSG00000234776
PEX16 GeneProduct ensembl:ENSG00000121680
LARGE2 GeneProduct ensembl:ENSG00000165905 GYLTL1B
EXT2 GeneProduct ensembl:ENSG00000151348
ALX4 GeneProduct ensembl:ENSG00000052850
PHF21A GeneProduct ensembl:ENSG00000135365
PMP34 Protein uniprot:O43808
Pex3 Protein uniprot:P56589


  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. Sulfation of sialyl N-acetyllactosamine oligosaccharides and fetuin oligosaccharides by keratan sulfate Gal-6-sulfotransferase. Torii T, Fukuta M, Habuchi O. Glycobiology. 2000 Feb;10(2):203–11. PubMed Europe PMC Scholia
  12. 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
  13. 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
  14. The human cDNA for a homologue of the plant enzyme 1-aminocyclopropane-1-carboxylate synthase encodes a protein lacking that activity. Koch KA, Capitani G, Gruetter MG, Kirsch JF. Gene. 2001 Jul 11;272(1–2):75–84. PubMed Europe PMC Scholia
  15. 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
  16. Alx4 binding to LEF-1 regulates N-CAM promoter activity. Boras K, Hamel PA. J Biol Chem. 2002 Jan 11;277(2):1120–7. PubMed Europe PMC Scholia
  17. Interplay between the molecular signals that control vertebrate limb development. Niswander L. Int J Dev Biol. 2002;46(7):877–81. PubMed Europe PMC Scholia
  18. EWI2/PGRL associates with the metastasis suppressor KAI1/CD82 and inhibits the migration of prostate cancer cells. Zhang XA, Lane WS, Charrin S, Rubinstein E, Liu L. Cancer Res. 2003 May 15;63(10):2665–74. PubMed Europe PMC Scholia
  19. 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
  20. 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
  21. 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
  22. 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
  23. Enzymes responsible for synthesis of corneal keratan sulfate glycosaminoglycans. Kitayama K, Hayashida Y, Nishida K, Akama TO. J Biol Chem. 2007 Oct 12;282(41):30085–96. PubMed Europe PMC Scholia
  24. Heparan sulfate biosynthesis enzymes EXT1 and EXT2 affect NDST1 expression and heparan sulfate sulfation. Presto J, Thuveson M, Carlsson P, Busse M, Wilén M, Eriksson I, et al. Proc Natl Acad Sci U S A. 2008 Mar 25;105(12):4751–6. PubMed Europe PMC Scholia
  25. Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase. Bao X, Kobayashi M, Hatakeyama S, Angata K, Gullberg D, Nakayama J, et al. Proc Natl Acad Sci U S A. 2009 Jul 21;106(29):12109–14. PubMed Europe PMC Scholia
  26. 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
  27. Syndecan-syntenin-ALIX regulates the biogenesis of exosomes. Baietti MF, Zhang Z, Mortier E, Melchior A, Degeest G, Geeraerts A, et al. Nat Cell Biol. 2012 Jun 3;14(7):677–85. 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. The dynamic N(1)-methyladenosine methylome in eukaryotic messenger RNA. Dominissini D, Nachtergaele S, Moshitch-Moshkovitz S, Peer E, Kol N, Ben-Haim MS, et al. Nature. 2016 Feb 25;530(7591):441–6. PubMed Europe PMC Scholia
  30. 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
  31. Phylogenetic and Functional Classification of the Photolyase/Cryptochrome Family. Ozturk N. Photochem Photobiol. 2017 Jan;93(1):104–11. PubMed Europe PMC Scholia
  32. 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
  33. 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