16p11.2 proximal deletion syndrome (Homo sapiens)

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4, 1020314151911, 2, 91918111719121471316142065KCTD13 deficient mice- synaptic formation- mature spine density in hippocampusRNA geneLymphocyte traffickingLympthocyte polarizationpromotor bindingtranscriptionalregulatorChromosome 16: 30,190,593mitosisFunction unclearEnzymatic activitydioxygenase activitylocated in zymogen granule membraneinvolved in protein secretionexact function unknown but involvedin movement disorders in genetic epilepsies Vault formationexcitotoxic to neuronsChromosome 16: 29,592,751stress induced cellcycle arrest andapoptosisunknown functionFunction unclearinvolved in neuronal ERtraffickingStress178PRRT2KMT2CApoptosis BPTFTMEM219Sodium molybdateKMT2DCDIPTDOC2AASPHD1SMG1P2SEZ6L2MAPK3PTENGDPD3HIRIP3SIAH1CDIPTOSPGlucocorticoid receptor pathwaymyo-inositolPAGR1MSNMVPINO80ETAOK2TBX6CO2QPRTnicotinate β-D-ribonucleotideZG16CORO1AMAB21L4IGFBP3diphosphate(3−)CASP8PARP4MAP2K3PCNAKCTD13PPARGRN7SKP127MAZALDOAH+hsa-mir-3680-2PAXIP1NR3C1MAP2K61-phosphatidyl-1D-myo-inositol(1−)DNA replicationC16orf92ESR15-phospho-α-D-ribose 1-diphosphatePPP4CCA5AP1quinolinateHistone modificationsSLC7A5P1KIF22phthalic acidNAD+ biosynthesisTLCD3BCDP-diacylglycerol(2−)SPNYPEL3cytidine 5'-monophosphate(2−)Neurotransmitter release cycleEZRpseudo gene6PAGR11, 2, 955151120


16p11.2 proximal deletion syndrome is a rare genetic disorder (copy number variation) caused by a deletion in the region of chromosome 16 from 29,592,751 to 30,190,593 bp.

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  1. Malik SS, Patterson DN, Ncube Z, Toth EA; ''The crystal structure of human quinolinic acid phosphoribosyltransferase in complex with its inhibitor phthalic acid.''; Proteins, 2014 PubMed Europe PMC Scholia
  2. Liu H, Woznica K, Catton G, Crawford A, Botting N, Naismith JH; ''Structural and kinetic characterization of quinolinate phosphoribosyltransferase (hQPRTase) from homo sapiens.''; J Mol Biol, 2007 PubMed Europe PMC Scholia
  3. Yu Z, Fotouhi-Ardakani N, Wu L, Maoui M, Wang S, Banville D, Shen SH; ''PTEN associates with the vault particles in HeLa cells.''; J Biol Chem, 2002 PubMed Europe PMC Scholia
  4. Papandreou A, Danti FR, Spaull R, Leuzzi V, Mctague A, Kurian MA; ''The expanding spectrum of movement disorders in genetic epilepsies.''; Dev Med Child Neurol, 2020 PubMed Europe PMC Scholia
  5. Zhang Z, Sun Y, Cho YW, Chow CC, Simons SS Jr; ''PA1 protein, a new competitive decelerator acting at more than one step to impede glucocorticoid receptor-mediated transactivation.''; J Biol Chem, 2013 PubMed Europe PMC Scholia
  6. Serrador JM, Nieto M, Alonso-Lebrero JL, del Pozo MA, Calvo J, Furthmayr H, Schwartz-Albiez R, Lozano F, González-Amaro R, Sánchez-Mateos P, Sánchez-Madrid F; ''CD43 interacts with moesin and ezrin and regulates its redistribution to the uropods of T lymphocytes at the cell-cell contacts.''; Blood, 1998 PubMed Europe PMC Scholia
  7. He H, Tan CK, Downey KM, So AG; ''A tumor necrosis factor alpha- and interleukin 6-inducible protein that interacts with the small subunit of DNA polymerase delta and proliferating cell nuclear antigen.''; Proc Natl Acad Sci U S A, 2001 PubMed Europe PMC Scholia
  8. Miyazaki T, Hashimoto K, Uda A, Sakagami H, Nakamura Y, Saito SY, Nishi M, Kume H, Tohgo A, Kaneko I, Kondo H, Fukunaga K, Kano M, Watanabe M, Takeshima H; ''Disturbance of cerebellar synaptic maturation in mutant mice lacking BSRPs, a novel brain-specific receptor-like protein family.''; FEBS Lett, 2006 PubMed Europe PMC Scholia
  9. Fukuoka SI, Nyaruhucha CM, Shibata K; ''Characterization and functional expression of the cDNA encoding human brain quinolinate phosphoribosyltransferase.''; Biochim Biophys Acta, 1998 PubMed Europe PMC Scholia
  10. Ebrahimi-Fakhari D, Saffari A, Westenberger A, Klein C; ''The evolving spectrum of PRRT2-associated paroxysmal diseases.''; Brain, 2015 PubMed Europe PMC Scholia
  11. Lykidis A, Jackson PD, Rock CO, Jackowski S; ''The role of CDP-diacylglycerol synthetase and phosphatidylinositol synthase activity levels in the regulation of cellular phosphatidylinositol content.''; J Biol Chem, 1997 PubMed Europe PMC Scholia
  12. Zhou YB, Cao JB, Yang HM, Zhu H, Xu ZG, Wang KS, Zhang X, Wang ZQ, Han ZG; ''hZG16, a novel human secreted protein expressed in liver, was down-regulated in hepatocellular carcinoma.''; Biochem Biophys Res Commun, 2007 PubMed Europe PMC Scholia
  13. Jordan-Sciutto KL, Dragich JM, Caltagarone J, Hall DJ, Bowser R; ''Fetal Alz-50 clone 1 (FAC1) protein interacts with the Myc-associated zinc finger protein (ZF87/MAZ) and alters its transcriptional activity.''; Biochemistry, 2000 PubMed Europe PMC Scholia
  14. Gong Z, Cho YW, Kim JE, Ge K, Chen J; ''Accumulation of Pax2 transactivation domain interaction protein (PTIP) at sites of DNA breaks via RNF8-dependent pathway is required for cell survival after DNA damage.''; J Biol Chem, 2009 PubMed Europe PMC Scholia
  15. Abbondanza C, Rossi V, Roscigno A, Gallo L, Belsito A, Piluso G, Medici N, Nigro V, Molinari AM, Moncharmont B, Puca GA; ''Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell.''; J Cell Biol, 1998 PubMed Europe PMC Scholia
  16. Kickhoefer VA, Siva AC, Kedersha NL, Inman EM, Ruland C, Streuli M, Rome LH; ''The 193-kD vault protein, VPARP, is a novel poly(ADP-ribose) polymerase.''; J Cell Biol, 1999 PubMed Europe PMC Scholia
  17. Arbogast T, Razaz P, Ellegood J, McKinstry SU, Erdin S, Currall B, Aneichyk T, Lerch JP, Qiu LR, Rodriguiz RM, Henkelman RM, Talkowski ME, Wetsel WC, Golzio C, Katsanis N; ''Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions.''; Hum Mol Genet, 2019 PubMed Europe PMC Scholia
  18. Germani A, Bruzzoni-Giovanelli H, Fellous A, Gisselbrecht S, Varin-Blank N, Calvo F; ''SIAH-1 interacts with alpha-tubulin and degrades the kinesin Kid by the proteasome pathway during mitosis.''; Oncogene, 2000 PubMed Europe PMC Scholia
  19. Ingermann AR, Yang YF, Han J, Mikami A, Garza AE, Mohanraj L, Fan L, Idowu M, Ware JL, Kim HS, Lee DY, Oh Y; ''Identification of a novel cell death receptor mediating IGFBP-3-induced anti-tumor effects in breast and prostate cancer.''; J Biol Chem, 2010 PubMed Europe PMC Scholia
  20. Chen Z, Cobb MH; ''Regulation of stress-responsive mitogen-activated protein (MAP) kinase pathways by TAO2.''; J Biol Chem, 2001 PubMed Europe PMC Scholia


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112920view10:24, 20 October 2020Fehrhartwork in progress
112918view10:07, 20 October 2020Fehrhartwork in progress
112917view09:36, 20 October 2020Fehrhartwork in progress
112846view05:47, 12 October 2020EgonwReplaced secondary ChEBI IDs with primary IDs
112286view13:02, 9 October 2020Fehrhartwork in progress
112285view12:14, 9 October 2020Fehrhartwork in progress
112284view11:34, 9 October 2020Fehrhartwork in progress
112283view11:05, 9 October 2020Fehrhartwork in progress
112282view10:16, 9 October 2020Fehrhartwork in progress
112269view15:03, 8 October 2020Fehrhartwork in progress
112128view20:40, 25 September 2020Khanspersdecreased board size
111261view15:35, 27 July 2020FehrhartModified description
111257view15:34, 27 July 2020FehrhartOntology Term : 'chromosome 16p11.2 deletion syndrome, 220kb' added !
111256view15:34, 27 July 2020FehrhartOntology Term : 'disease pathway' added !
111255view15:34, 27 July 2020FehrhartOntology Term : 'genetic disease' added !
111253view15:32, 27 July 2020FehrhartModified description
111251view15:20, 27 July 2020FehrhartNew pathway

External references


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NameTypeDatabase referenceComment
1-phosphatidyl-1D-myo-inositol(1−)Metabolite57880 (ChEBI)
5-phospho-α-D-ribose 1-diphosphateMetabolite58017 (ChEBI)
ALDOAGeneProductENSG00000149925 (Ensembl)
ASPHD1GeneProductENSG00000174939 (Ensembl)
Apoptosis PathwayWP254 (WikiPathways)
BPTFGeneProductENSG00000171634 (Ensembl) FAC1
C16orf92GeneProductENSG00000167194 (Ensembl)
CA5AP1GeneProductENSG00000260133 (Ensembl)
CASP8GeneProductENSG00000064012 (Ensembl)
CDIPTGeneProductENSG00000103502 (Ensembl)
CDIPTOSPGeneProductENSG00000214725 (Ensembl)
CDP-diacylglycerol(2−)Metabolite58332 (ChEBI)
CO2MetaboliteCHEBI:16526 (ChEBI)
CORO1AGeneProductENSG00000102879 (Ensembl)
DNA replicationPathwayWP466 (WikiPathways)
DOC2AGeneProductENSG00000149927 (Ensembl)
ESR1GeneProductENSG00000091831 (Ensembl)
EZRGeneProductENSG00000092820 (Ensembl)
GDPD3GeneProductENSG00000102886 (Ensembl)
Glucocorticoid receptor pathwayPathwayWP2880 (WikiPathways)
H+Metabolite15378 (ChEBI)
HIRIP3GeneProductENSG00000149929 (Ensembl)
Histone modificationsPathwayWP2369 (WikiPathways)
IGFBP3GeneProductENSG00000146674 (Ensembl)
INO80EGeneProductENSG00000169592 (Ensembl)
KCTD13GeneProductENSG00000174943 (Ensembl)
KIF22GeneProductENSG00000079616 (Ensembl)
KMT2CGeneProductENSG00000055609 (Ensembl)
KMT2DGeneProductENSG00000167548 (Ensembl)
MAB21L4GeneProductENSG00000185905 (Ensembl) C2orf54
MAP2K3GeneProductENSG00000034152 (Ensembl)
MAP2K6GeneProductENSG00000108984 (Ensembl)
MAPK3GeneProductENSG00000102882 (Ensembl)
MAZGeneProductENSG00000103495 (Ensembl)
MSNGeneProductENSG00000147065 (Ensembl)
MVPGeneProductENSG00000013364 (Ensembl)
NAD+ biosynthesisPathwayWP3645 (WikiPathways)
NR3C1GeneProductENSG00000113580 (Ensembl)
Neurotransmitter release cyclePathwayWP1871 (WikiPathways)
PAGR1GeneProductENSG00000280789 (Ensembl)
PARP4GeneProductENSG00000102699 (Ensembl)
PAXIP1GeneProductENSG00000157212 (Ensembl)
PCNAGeneProductENSG00000132646 (Ensembl)
PPARGGeneProductENSG00000132170 (Ensembl)
PPP4CGeneProductENSG00000149923 (Ensembl)
PRRT2GeneProductENSG00000167371 (Ensembl)
PTENGeneProductENSG00000171862 (Ensembl)
QPRTGeneProductENSG00000103485 (Ensembl)
RN7SKP127GeneProductENSG00000222375 (Ensembl)
SEZ6L2GeneProductENSG00000174938 (Ensembl)
SIAH1GeneProductENSG00000196470 (Ensembl)
SLC7A5P1GeneProductENSG00000260727 (Ensembl)
SMG1P2GeneProductENSG00000205534 (Ensembl)
SPNGeneProductENSG00000197471 (Ensembl) Leukosialin also known as sialophorin or CD43
Sodium molybdateMetaboliteCHEBI:75215 (ChEBI)
TAOK2GeneProductENSG00000149930 (Ensembl)
TBX6GeneProductENSG00000149922 (Ensembl)
TLCD3BGeneProductENSG00000149926 (Ensembl)
TMEM219GeneProductENSG00000149932 (Ensembl) IGFBP-3R
YPEL3GeneProductENSG00000090238 (Ensembl)
ZG16GeneProductENSG00000174992 (Ensembl)
cytidine 5'-monophosphate(2−)Metabolite60377 (ChEBI)
diphosphate(3−) Metabolite33019 (ChEBI)
hsa-mir-3680-2GeneProductMI0019113 (miRBase Sequence)
myo-inositolMetabolite17268 (ChEBI)
nicotinate β-D-ribonucleotideMetabolite57502 (ChEBI)
phthalic acidMetaboliteCHEBI:29069 (ChEBI)
quinolinateMetaboliteCHEBI:29959 (ChEBI)

Annotated Interactions

SourceTargetTypeDatabase referenceComment
CDIPTmim-catalysis11580 (Rhea)
mim-conversion11580 (Rhea)
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