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 (GRCh37). The breakpoints are from: Dell'Edera 2018 PMID: 29609622.
C16orf92MUNC13Complex PortalSMEK2IGFBP-3RSMEK1FAC1Leukosialin also known as sialophorin or CD43 C2orf54MUNC13dc4bacf40bf7ee7d63c20b0ff40fc1c4fd3efb9a2dd0eb44fe6b19d0eda2e72a21cc0e43d0eda2da2d0eda2cceab3ab3c22c65cc0e43d63b19dc4fe0f50a21ca4a21dc4fe0b44fe6b19b0fb0fc65fc1f40f50d0ed0ed0ed0ee43cc0e43cc3bacbacbacbacbacbacbacbacbacbacbacbacb31b31b31b31b31b31b31cdaf7cef3genetic diseaseDOID:630Disease31784983PubMedThe expanding spectrum of movement disorders in genetic epilepsies.Dev Med Child Neurol2020Papandreou ADanti FRSpaull RLeuzzi VMctague AKurian MA27637550PubMedCalcium-dependent generation of N-acylethanolamines and lysophosphatidic acids by glycerophosphodiesterase GDE7.Biochim Biophys Acta2016Rahman IATsuboi KHussain ZYamashita ROkamoto YUyama TYamazaki NTanaka TTokumura AUeda Ndisease pathwayPW:0000013Pathway Ontology9407135PubMedThe role of CDP-diacylglycerol synthetase and phosphatidylinositol synthase activity levels in the regulation of cellular phosphatidylinositol content.J Biol Chem1997Lykidis AJackson PDRock COJackowski S10727212PubMedFetal Alz-50 clone 1 (FAC1) protein interacts with the Myc-associated zinc finger protein (ZF87/MAZ) and alters its transcriptional activity.Biochemistry2000Jordan-Sciutto KLDragich JMCaltagarone JHall DJBowser R9616160PubMedCD43 interacts with moesin and ezrin and regulates its redistribution to the uropods of T lymphocytes at the cell-cell contacts.Blood1998Serrador JMNieto MAlonso-Lebrero JLdel Pozo MACalvo JFurthmayr HSchwartz-Albiez RLozano FGonzález-Amaro RSánchez-Mateos PSánchez-Madrid F23161582PubMedPA1 protein, a new competitive decelerator acting at more than one step to impede glucocorticoid receptor-mediated transactivation.J Biol Chem2013Zhang ZSun YCho YWChow CCSimons SS Jr9710638PubMedCore histones and HIRIP3, a novel histone-binding protein, directly interact with WD repeat protein HIRA.Mol Cell Biol1998Lorain SQuivy JPMonier-Gavelle FScamps CLécluse YAlmouzni GLipinski M18715871PubMedPP4R4/KIAA1622 forms a novel stable cytosolic complex with phosphoprotein phosphatase 4.J Biol Chem2008Chen GITisayakorn SJorgensen CD'Ambrosio LMGoudreault MGingras AC11279118PubMedRegulation of stress-responsive mitogen-activated protein (MAP) kinase pathways by TAO2.J Biol Chem2001Chen ZCobb MH31916624PubMedBiosynthesis of the anti-lipid-microdomain sphingoid base 4,14-sphingadiene by the ceramide desaturase FADS3.FASEB J2020Jojima KEdagawa MSawai MOhno YKihara A7758584PubMedMolecular cloning of a novel actin-binding protein, p57, with a WD repeat and a leucine zipper motif.FEBS Lett1995Suzuki KNishihata JArai YHonma NYamamoto KIrimura TToyoshima S12912983PubMedTwo mammalian longevity assurance gene (LAG1) family members, trh1 and trh4, regulate dihydroceramide synthesis using different fatty acyl-CoA donors.J Biol Chem2003Riebeling CAllegood JCWang EMerrill AH JrFuterman AH27526206PubMedActive zone scaffolds differentially accumulate Unc13 isoforms to tune Ca(2+) channel-vesicle coupling.Nat Neurosci2016Böhme MABeis CReddy-Alla SReynolds EMampell MMGrasskamp ATLützkendorf JBergeron DDDriller JHBabikir HGöttfert FRobinson IMO'Kane CJHell SWWahl MCStelzl ULoll BWalter AMSigrist SJ11593007PubMedA 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 A2001He HTan CKDowney KMSo AG32295885PubMedSpermatozoa lacking Fertilization Influencing Membrane Protein (FIMP) fail to fuse with oocytes in mice.Proc Natl Acad Sci U S A2020Fujihara YLu YNoda TOji ALarasati TKojima-Kita KYu ZMatzuk RMMatzuk MMIkawa M30590535PubMedKctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions.Hum Mol Genet2019Arbogast TRazaz PEllegood JMcKinstry SUErdin SCurrall BAneichyk TLerch JPQiu LRRodriguiz RMHenkelman RMTalkowski MEWetsel WCGolzio CKatsanis N23213474PubMedFss/Tbx6 is required for central dermomyotome cell fate in zebrafish.Biol Open2012Windner SEBird NCPatterson SEDoris RADevoto SH18634786PubMedProtein phosphatase 4 negatively regulates LPS cascade by inhibiting ubiquitination of TRAF6.FEBS Lett2008Chen LDong WZou TOuyang LHe GLiu YQi Y17868694PubMedStructural and kinetic characterization of quinolinate phosphoribosyltransferase (hQPRTase) from homo sapiens.J Mol Biol2007Liu HWoznica KCatton GCrawford ABotting NNaismith JH20353938PubMedIdentification of a novel cell death receptor mediating IGFBP-3-induced anti-tumor effects in breast and prostate cancer.J Biol Chem2010Ingermann ARYang YFHan JMikami AGarza AEMohanraj LFan LIdowu MWare JLKim HSLee DYOh Y12177006PubMedPTEN associates with the vault particles in HeLa cells.J Biol Chem2002Yu ZFotouhi-Ardakani NWu LMaoui MWang SBanville DShen SH19946469PubMedAlterations in gene expression and sensitivity to genotoxic stress following HdmX or Hdm2 knockdown in human tumor cells harboring wild-type p53.Aging (Albany NY)2009Heminger KMarkey MMpagi MBerberich SJ10477748PubMedThe 193-kD vault protein, VPARP, is a novel poly(ADP-ribose) polymerase.J Cell Biol1999Kickhoefer VASiva ACKedersha NLInman EMRuland CStreuli MRome LH9837938PubMedProtein phosphatase X interacts with c-Rel and stimulates c-Rel/nuclear factor kappaB activity.J Biol Chem1998Hu MCTang-Oxley QQiu WRWang YPMihindukulasuriya KAAfshar RTan TH28847827PubMedThe INO80 remodeller in transcription, replication and repair.Philos Trans R Soc Lond B Biol Sci2017Poli JGasser SMPapamichos-Chronakis Mchromosome 16p11.2 deletion syndrome, 220kbDOID:0060398Disease15805470PubMedHistone deacetylase 3 (HDAC3) activity is regulated by interaction with protein serine/threonine phosphatase 4.Genes Dev2005Zhang XOzawa YLee HWen YDTan THWadzinski BESeto E19124460PubMedAccumulation 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 Chem2009Gong ZCho YWKim JEGe KChen J9473669PubMedCharacterization and functional expression of the cDNA encoding human brain quinolinate phosphoribosyltransferase.Biochim Biophys Acta1998Fukuoka SINyaruhucha CMShibata K24038671PubMedThe crystal structure of human quinolinic acid phosphoribosyltransferase in complex with its inhibitor phthalic acid.Proteins2014Malik SSPatterson DNNcube ZToth EA25134449PubMedThe PP4R1 subunit of protein phosphatase PP4 targets TRAF2 and TRAF6 to mediate inhibition of NF-κB activation.Cell Signal2014Hadweh PHabelhah HKieff EMosialos GHatzivassiliou E15556292PubMedIdentification and characterization of a novel gene family YPEL in a wide spectrum of eukaryotic species.Gene2004Hosono KSasaki TMinoshima SShimizu N26598493PubMedThe evolving spectrum of PRRT2-associated paroxysmal diseases.Brain2015Ebrahimi-Fakhari DSaffari AWestenberger AKlein C25725067PubMedTbx6, Mesp-b and Ripply1 regulate the onset of skeletal myogenesis in zebrafish.Development2015Windner SEDoris RAFerguson CMNelson ACValentin GTan HOates ACWardle FCDevoto SH11146551PubMedSIAH-1 interacts with alpha-tubulin and degrades the kinesin Kid by the proteasome pathway during mitosis.Oncogene2000Germani ABruzzoni-Giovanelli HFellous AGisselbrecht SVarin-Blank NCalvo F23275342PubMedFam57b (family with sequence similarity 57, member B), a novel peroxisome proliferator-activated receptor γ target gene that regulates adipogenesis through ceramide synthesis.J Biol Chem2013Yamashita-Sugahara YTokuzawa YNakachi YKanesaki-Yatsuka YMatsumoto MMizuno YOkazaki Y16814779PubMedDisturbance of cerebellar synaptic maturation in mutant mice lacking BSRPs, a novel brain-specific receptor-like protein family.FEBS Lett2006Miyazaki THashimoto KUda ASakagami HNakamura YSaito SYNishi MKume HTohgo AKaneko IKondo HFukunaga KKano MWatanabe MTakeshima H9628887PubMedInteraction of vault particles with estrogen receptor in the MCF-7 breast cancer cell.J Cell Biol1998Abbondanza CRossi VRoscigno AGallo LBelsito APiluso GMedici NNigro VMolinari AMMoncharmont BPuca GA17307141PubMedhZG16, a novel human secreted protein expressed in liver, was down-regulated in hepatocellular carcinoma.Biochem Biophys Res Commun2007Zhou YBCao JBYang HMZhu HXu ZGWang KSZhang XWang ZQHan ZG