IQSEC2: Difference between revisions
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Revision as of 01:49, 11 February 2025
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| Entrez Gene | – |
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IQ motif and Sec7 domain 2 is a protein that in humans is encoded by the IQSEC2 gene.<ref name="entrez">
Entrez Gene: IQ motif and Sec7 domain 2(link). {{{website}}}.
</ref><ref name="pmid9628581">,
Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro, DNA Res., Vol. 5(Issue: 1), pp. 31–9, DOI: 10.1093/dnares/5.1.31, PMID: 9628581,</ref>
Function
The IQSEC2 gene encodes a guanine nucleotide exchange factor for the ARF family of GTP-binding proteins (see for example ARF1).<ref name="pmid20473311">,
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability, Nat. Genet., Vol. 42(Issue: 6), pp. 486–8, DOI: 10.1038/ng.588, PMID: 20473311, PMC: 3632837,</ref>
Clinical significance
It is associated with X-Linked mental retardation 1.<ref name="pmid20473311"/>
References
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Further reading
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The DNA sequence of the human X chromosome., Nature, 2005, Vol. 434(Issue: 7031), pp. 325–37, DOI: 10.1038/nature03440, PMID: 15772651, PMC: 2665286,
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Complete sequencing and characterization of 21,243 full-length human cDNAs., Nat. Genet., 2004, Vol. 36(Issue: 1), pp. 40–5, DOI: 10.1038/ng1285, PMID: 14702039,
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Boundaries between chromosomal domains of X inactivation and escape bind CTCF and lack CpG methylation during early development., Dev. Cell, 2005, Vol. 8(Issue: 1), pp. 31–42, DOI: 10.1016/j.devcel.2004.10.018, PMID: 15669143,
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Phylogenetic analysis of Sec7-domain-containing Arf nucleotide exchangers., Mol. Biol. Cell, 2004, Vol. 15(Issue: 4), pp. 1487–505, DOI: 10.1091/mbc.E03-06-0443, PMID: 14742722, PMC: 379250,
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Composition of the synaptic PSD-95 complex., Mol. Cell. Proteomics, 2007, Vol. 6(Issue: 10), pp. 1749–60, DOI: 10.1074/mcp.M700040-MCP200, PMID: 17623647, PMC: 2096750,
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Comparative sequence and x-inactivation analyses of a domain of escape in human xp11.2 and the conserved segment in mouse., Genome Res., 2004, Vol. 14(Issue: 7), pp. 1275–84, DOI: 10.1101/gr.2575904, PMID: 15197169, PMC: 442142,
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Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences., Proc. Natl. Acad. Sci. U.S.A., 2002, Vol. 99(Issue: 26), pp. 16899–903, DOI: 10.1073/pnas.242603899, PMID: 12477932, PMC: 139241,
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Toward a confocal subcellular atlas of the human proteome., Mol. Cell. Proteomics, 2008, Vol. 7(Issue: 3), pp. 499–508, DOI: 10.1074/mcp.M700325-MCP200, PMID: 18029348,
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BRAG1, a Sec7 domain-containing protein, is a component of the postsynaptic density of excitatory synapses., Brain Res., 2006, Vol. 1120(Issue: 1), pp. 35–45, DOI: 10.1016/j.brainres.2006.08.096, PMID: 17045249,
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