3q29 copy number variation (duplication or deletion) is a rare genetic condition that results in a variety of psychiatric problems. The genes on the red DNA strand represents the deleted, or duplicated, region. The downstream effects and interaction partners of the different genes are shown according to available knowledge. The breakpoints (chr3:195,788,299 – 197,033,296, GRCh37/hg19) are defined as given in Cox and Butler PMID: 25714563. pseudo gene pseudo gene pseudo gene pseudo pseudo pseudo gene pseudo gene pseudo gene ncRNA ncRNA DBC1 ncRNA pseudo gene OSTA, OSTalpha ncRNA pseudo gene GluR1 OSTB, OSTbeta ncRNA ubiquitinated histone H2B - histone H2B is a gene family of about 23 genes LRRC33 ncRNA Ferroportin ncRNA Complex Database (EMBL) ncRNA merlin Transferrin pseudo gene Palmitoyltransferase pseudo gene ncRNA ncRNA OSTA, OSTalpha merlin DBC1 DBC1 d94 b7e e92 a7c b35 c88 e73 c58 f56 d9c eb0 a84 a5a b52 ad3 b4e c80 bcf ba7 ece c7f a6e c88 a77 a9e b75 ff0 b8c bdc a82 ba7 ece a82 f9b d9f f56 c7f a6e c39 ff0 b24 c0b fa0 a47 d94 aa9 c88 f9b c88 b4e b2b c66 ff0 c88 b35 ad3 ad3 ad3 a84 a84 a84 b57 9692923 PubMed The role of histidine residues in the HXGH site of CTP:phosphocholine cytidylyltransferase in CTP binding and catalysis. Eur J Biochem 1998 Veitch DP Gilham D Cornell RB 12718547 PubMed Identification of lysine 122 and arginine 196 as important functional residues of rat CTP:phosphocholine cytidylyltransferase alpha. Biochemistry 2003 Helmink BA Braker JD Kent C Friesen JA 1718748 PubMed Molecular cloning and characterisation of a novel putative protein-serine kinase related to the cAMP-dependent and protein kinase C families. Eur J Biochem 1991 Coffer PJ Woodgett JR 9677374 PubMed SAP97 is associated with the alpha-amino-3-hydroxy-5-methylisoxazole-4-propionic acid receptor GluR1 subunit. J Biol Chem 1998 Leonard AS Davare MA Horne MC Garner CC Hell JW 21177766 PubMed P21-activated protein kinase (PAK2)-mediated c-Jun phosphorylation at 5 threonine sites promotes cell transformation. Carcinogenesis 2011 Li T Zhang J Zhu F Wen W Zykova T Li X Liu K Peng C Ma W Shi G Dong Z Bode AM 30845223 PubMed Host and parasite responses in human diffuse cutaneous leishmaniasis caused by L. amazonensis. PLoS Negl Trop Dis 2019 Christensen SM Belew AT El-Sayed NM Tafuri WL Silveira FT Mosser DM 20333297 PubMed Ack1 mediated AKT/PKB tyrosine 176 phosphorylation regulates its activation. PLoS One 2010 Mahajan K Coppola D Challa S Fang B Chen YA Zhu W Lopez AS Koomen J Engelman RW Rivera C Muraoka-Cook RS Cheng JQ Schönbrunn E Sebti SM Earp HS Mahajan NP 15378014 PubMed Serine 518 phosphorylation modulates merlin intramolecular association and binding to critical effectors important for NF2 growth suppression. Oncogene 2004 Rong R Surace EI Haipek CA Gutmann DH Ye K 7556058 PubMed A novel iron uptake mechanism mediated by GPI-anchored human p97. EMBO J 1995 Kennard ML Richardson DR Gabathuler R Ponka P Jefferies WA 17494760 PubMed Activated Cdc42-associated kinase Ack1 promotes prostate cancer progression via androgen receptor tyrosine phosphorylation. Proc Natl Acad Sci U S A 2007 Mahajan NP Liu Y Majumder S Warren MR Parker CE Mohler JL Earp HS Whang YE 11087735 PubMed Stimulation of M3 muscarinic receptors induces phosphorylation of the Cdc42 effector activated Cdc42Hs-associated kinase-1 via a Fyn tyrosine kinase signaling pathway. J Biol Chem 2001 Linseman DA Heidenreich KA Fisher SK 8647288 PubMed Tyrosine phosphorylation of ACK in response to temperature shift-down, hyperosmotic shock, and epidermal growth factor stimulation. FEBS Lett 1996 Satoh T Kato J Nishida K Kaziro Y 15563450 PubMed The heteromeric organic solute transporter alpha-beta, Ostalpha-Ostbeta, is an ileal basolateral bile acid transporter. J Biol Chem 2005 Dawson PA Hubbert M Haywood J Craddock AL Zerangue N Christian WV Ballatori N 14749374 PubMed Negative control of the Myc protein by the stress-responsive kinase Pak2. Mol Cell Biol 2004 Huang Z Traugh JA Bishop JM 12102554 PubMed Muc4/sialomucin complex, the intramembrane ErbB2 ligand, in cancer and epithelia: to protect and to survive. Prog Nucleic Acid Res Mol Biol 2002 Carraway KL Perez A Idris N Jepson S Arango M Komatsu M Haq B Price-Schiavi SA Zhang J Carraway CA 21555521 PubMed Phosphorylation of caspase-7 by p21-activated protein kinase (PAK) 2 inhibits chemotherapeutic drug-induced apoptosis of breast cancer cell lines. J Biol Chem 2011 Li X Wen W Liu K Zhu F Malakhova M Peng C Li T Kim HG Ma W Cho YY Bode AM Dong Z disease of mental health DOID:150 Disease 9465039 PubMed The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci U S A 1998 Feder JN Penny DM Irrinki A Lee VK Lebrón JA Watson N Tsuchihashi Z Sigal E Bjorkman PJ Schatzman RC chromosome 3q29 microduplication syndrome DOID:0060459 Disease 23317503 PubMed HIV Nef, paxillin, and Pak1/2 regulate activation and secretion of TACE/ADAM10 proteases. Mol Cell 2013 Lee JH Wittki S Bräu T Dreyer FS Krätzel K Dindorf J Johnston IC Gross S Kremmer E Zeidler R Schlötzer-Schrehardt U Lichtenheld M Saksela K Harrer T Schuler G Federico M Baur AS 28428259 PubMed RABL2 interacts with the intraflagellar transport-B complex and CEP19 and participates in ciliary assembly. Mol Biol Cell 2017 Nishijima Y Hagiya Y Kubo T Takei R Katoh Y Nakayama K 18235501 PubMed DBC1 is a negative regulator of SIRT1. Nature 2008 Kim JE Chen J Lou Z 18775313 PubMed UBXD7 binds multiple ubiquitin ligases and implicates p97 in HIF1alpha turnover. Cell 2008 Alexandru G Graumann J Smith GT Kolawa NJ Fang R Deshaies RJ 20074548 PubMed Palmitoylation of R-Ras by human DHHC19, a palmitoyl transferase with a CaaX box. Biochim Biophys Acta 2010 Baumgart F Corral-Escariz M Pérez-Gil J Rodríguez-Crespo I 22566699 PubMed Ack1-mediated androgen receptor phosphorylation modulates radiation resistance in castration-resistant prostate cancer. J Biol Chem 2012 Mahajan K Coppola D Rawal B Chen YA Lawrence HR Engelman RW Lawrence NJ Mahajan NP 16848710 PubMed Regulation of iron metabolism by hepcidin. Annu Rev Nutr 2006 Nemeth E Ganz T 29909984 PubMed A Milieu Molecule for TGF-β Required for Microglia Function in the Nervous System. Cell 2018 Qin Y Garrison BS Ma W Wang R Jiang A Li J Mistry M Bronson RT Santoro D Franco C Robinton DA Stevens B Rossi DJ Lu C Springer TA 25902869 PubMed Small molecule inhibition of group I p21-activated kinases in breast cancer induces apoptosis and potentiates the activity of microtubule stabilizing agents. Breast Cancer Res 2015 Ong CC Gierke S Pitt C Sagolla M Cheng CK Zhou W Jubb AM Strickland L Schmidt M Duron SG Campbell DA Zheng W Dehdashti S Shen M Yang N Behnke ML Huang W McKew JC Chernoff J Forrest WF Haverty PM Chin SF Rakha EA Green AR Ellis IO Caldas C O'Brien T Friedman LS Koeppen H Rudolph J Hoeflich KP 11545740 PubMed Crystal structure of the human nuclear cap binding complex. Mol Cell 2001 Mazza C Ohno M Segref A Mattaj IW Cusack S 26044572 PubMed TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun 2015 Schmidts M Hou Y Cortés CR Mans DA Huber C Boldt K Patel M van Reeuwijk J Plaza JM van Beersum SE Yap ZM Letteboer SJ Taylor SP Herridge W Johnson CA Scambler PJ Ueffing M Kayserili H Krakow D King SM Beales PL Al-Gazali L Wicking C Cormier-Daire V Roepman R Mitchison HM Witman GB 12719432 PubMed Functional complementation between a novel mammalian polygenic transport complex and an evolutionarily ancient organic solute transporter, OSTalpha-OSTbeta. J Biol Chem 2003 Seward DJ Koh AS Boyer JL Ballatori N chromosomal disease DOID:0080014 Disease 32296183 PubMed A reference map of the human binary protein interactome. Nature 2020 Luck K Kim DK Lambourne L Spirohn K Begg BE Bian W Brignall R Cafarelli T Campos-Laborie FJ Charloteaux B Choi D Coté AG Daley M Deimling S Desbuleux A Dricot A Gebbia M Hardy MF Kishore N Knapp JJ Kovács IA Lemmens I Mee MW Mellor JC Pollis C Pons C Richardson AD Schlabach S Teeking B Yadav A Babor M Balcha D Basha O Bowman-Colin C Chin SF Choi SG Colabella C Coppin G D'Amata C De Ridder D De Rouck S Duran-Frigola M Ennajdaoui H Goebels F Goehring L Gopal A Haddad G Hatchi E Helmy M Jacob Y Kassa Y Landini S Li R van Lieshout N MacWilliams A Markey D Paulson JN Rangarajan S Rasla J Rayhan A Rolland T San-Miguel A Shen Y Sheykhkarimli D Sheynkman GM Simonovsky E Taşan M Tejeda A Tropepe V Twizere JC Wang Y Weatheritt RJ Weile J Xia Y Yang X Yeger-Lotem E Zhong Q Aloy P Bader GD De Las Rivas J Gaudet S Hao T Rak J Tavernier J Hill DE Vidal M Roth FP Calderwood MA 25406032 PubMed Modification of DBC1 by SUMO2/3 is crucial for p53-mediated apoptosis in response to DNA damage. Nat Commun 2014 Park JH Lee SW Yang SW Yoo HM Park JM Seong MW Ka SH Oh KH Jeon YJ Chung CH 11394904 PubMed Epidermal growth factor stimulation of the ACK1/Dbl pathway in a Cdc42 and Grb2-dependent manner. Biochem Biophys Res Commun 2001 Kato-Stankiewicz J Ueda S Kataoka T Kaziro Y Satoh T 20538072 PubMed Getting the mOST from OST: Role of organic solute transporter, OSTalpha-OSTbeta, in bile acid and steroid metabolism. Biochim Biophys Acta 2010 Dawson PA Hubbert ML Rao A 1851997 PubMed Molecular cloning and identification of a serine/threonine protein kinase of the second-messenger subfamily. Proc Natl Acad Sci U S A 1991 Jones PF Jakubowicz T Pitossi FJ Maurer F Hemmings BA 22537386 PubMed UBXN7 docks on neddylated cullin complexes using its UIM motif and causes HIF1α accumulation. BMC Biol 2012 Bandau S Knebel A Gage ZO Wood NT Alexandru G 28659385 PubMed CEP19 cooperates with FOP and CEP350 to drive early steps in the ciliogenesis programme. Open Biol 2017 Mojarad BA Gupta GD Hasegan M Goudiam O Basto R Gingras AC Pelletier L 28625565 PubMed The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base. Dev Cell 2017 Kanie T Abbott KL Mooney NA Plowey ED Demeter J Jackson PK 15208306 PubMed Human Smp3p adds a fourth mannose to yeast and human glycosylphosphatidylinositol precursors in vivo. J Biol Chem 2004 Taron BW Colussi PA Wiedman JM Orlean P Taron CH 16288044 PubMed Activated tyrosine kinase Ack1 promotes prostate tumorigenesis: role of Ack1 in polyubiquitination of tumor suppressor Wwox. Cancer Res 2005 Mahajan NP Whang YE Mohler JL Earp HS 24263804 PubMed PAK-dependent STAT5 serine phosphorylation is required for BCR-ABL-induced leukemogenesis. Leukemia 2014 Berger A Hoelbl-Kovacic A Bourgeais J Hoefling L Warsch W Grundschober E Uras IZ Menzl I Putz EM Hoermann G Schuster C Fajmann S Leitner E Kubicek S Moriggl R Gouilleux F Sexl V 31285543 PubMed FBXO45-MYCBP2 regulates mitotic cell fate by targeting FBXW7 for degradation. Cell Death Differ 2020 Richter KT Kschonsak YT Vodicska B Hoffmann I 15635094 PubMed Mammalian PIG-X and yeast Pbn1p are the essential components of glycosylphosphatidylinositol-mannosyltransferase I. Mol Biol Cell 2005 Ashida H Hong Y Murakami Y Shishioh N Sugimoto N Kim YU Maeda Y Kinoshita T disease pathway PW:0000013 Pathway Ontology chromosome 3q29 microdeletion syndrome DOID:0060419 Disease 23532176 PubMed The ATM signaling network in development and disease. Front Genet 2013 Stracker TH Roig I Knobel PA Marjanović M 18235502 PubMed Negative regulation of the deacetylase SIRT1 by DBC1. Nature 2008 Zhao W Kruse JP Tang Y Jung SY Qin J Gu W 19203578 PubMed The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage. Cell 2009 Stewart GS Panier S Townsend K Al-Hakim AK Kolas NK Miller ES Nakada S Ylanko J Olivarius S Mendez M Oldreive C Wildenhain J Tagliaferro A Pelletier L Taubenheim N Durandy A Byrd PJ Stankovic T Taylor AM Durocher D 11027676 PubMed Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE. J Biol Chem 2000 West AP Jr Bennett MJ Sellers VM Andrews NC Enns CA Bjorkman PJ 23960073 PubMed FRAX597, a small molecule inhibitor of the p21-activated kinases, inhibits tumorigenesis of neurofibromatosis type 2 (NF2)-associated Schwannomas. J Biol Chem 2013 Licciulli S Maksimoska J Zhou C Troutman S Kota S Liu Q Duron S Campbell D Chernoff J Field J Marmorstein R Kissil JL 25586960 PubMed Pak2 regulates hematopoietic progenitor cell proliferation, survival, and differentiation. Stem Cells 2015 Zeng Y Broxmeyer HE Staser K Chitteti BR Park SJ Hahn S Cooper S Sun Z Jiang L Yang X Yuan J Kosoff R Sandusky G Srour EF Chernoff J Clapp DW