2q21.1 copy number variation syndrome (Homo sapiens)

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<?xml version="1.0" encoding="UTF-8"?> <Pathway xmlns="http://pathvisio.org/GPML/2013a" Name="2q21.1 copy number variation syndrome" Version="20220211" Organism="Homo sapiens"> <Comment Source="WikiPathways-description">The 2q21.1 copy number variation syndrome can result in the loss of up to 9 protein-coding genes. Deletions and duplications in 2q21.1 were reported to be connected to intellectual disability, hyperactivity, and aggressive behavior (DOI: 10.1002/mgg3.1135,DOI: 10.1002/ajmg.a.36357). The clinical picture was explained by alterations in five genes important for neurological development, namely GPR148, FAM123C, ARHGEF4, FAM168B and PLEKHB2 (DOI: 10.1002/ajmg.a.36357,DOI: 10.1093/hmg/dds166). Analogically, changes in tubulin genes in 2q21.1 were linked to Motor Timing in ADHD (DOI: 10.1016/j.ajhg.2008.06.006). For this rare disorder, two different genomic locations are known according to Kirov et al. 2014 and literature cited there and Gimelli et al. 2014 with a larger deletion. </Comment> <BiopaxRef>b4d</BiopaxRef> <Graphics BoardWidth="2877.7142857142862" BoardHeight="871.0529845741114" /> <DataNode TextLabel="LINC01120" Type="GeneProduct"> <Graphics CenterX="409.88180184142124" CenterY="675.0031995131345" Width="80.0" Height="20.0" ZOrder="32768" FontSize="12" Valign="Middle" Color="ff00ff" /> <Xref Database="Ensembl" ID="ENSG00000223631" /> </DataNode> <DataNode TextLabel="MIR4784" Type="GeneProduct"> <Graphics CenterX="734.5001224521085" CenterY="675.9573979864172" Width="80.0" Height="20.0" ZOrder="32768" FontSize="12" Valign="Middle" Color="ff00ff" /> <Xref Database="Ensembl" ID="ENSG00000284149" /> </DataNode> <DataNode TextLabel="LINC01087" Type="GeneProduct"> <Graphics CenterX="900.6389775069222" CenterY="675.9573979864172" Width="80.0" Height="20.0" ZOrder="32768" FontSize="12" 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neurite outgrowth inhibitory effect of Mani.</bp:TITLE> <bp:SOURCE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">FEBS Lett</bp:SOURCE> <bp:YEAR rdf:datatype="http://www.w3.org/2001/XMLSchema#string">2012</bp:YEAR> <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Mishra M</bp:AUTHORS> <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Lee S</bp:AUTHORS> <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Lin MK</bp:AUTHORS> <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Yamashita T</bp:AUTHORS> <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Heese K</bp:AUTHORS> </bp:PublicationXref> <bp:PublicationXref xmlns:bp="http://www.biopax.org/release/biopax-level3.owl#" xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:id="f03"> <bp:ID rdf:datatype="http://www.w3.org/2001/XMLSchema#string">15023524</bp:ID> <bp:DB rdf:datatype="http://www.w3.org/2001/XMLSchema#string">PubMed</bp:DB> 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