IQSEC2 explained

IQ motif and Sec7 domain 2 is a protein that in humans is encoded by the IQSEC2 gene.^{[1] [2]}

Function

The IQSEC2 gene encodes a guanine nucleotide exchange factor for the ARF family of GTP-binding proteins (see for example ARF1).^[3]

Clinical significance

It is associated with X-Linked mental retardation 1.^[3]

Further reading

• Ross MT, Grafham DV, Coffey AJ, etal . The DNA sequence of the human X chromosome. . Nature . 434 . 7031 . 325–37 . 2005 . 15772651 . 10.1038/nature03440 . 2665286. 2005Natur.434..325R .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Filippova GN, Cheng MK, Moore JM, etal . Boundaries between chromosomal domains of X inactivation and escape bind CTCF and lack CpG methylation during early development. . Dev. Cell . 8 . 1 . 31–42 . 2005 . 15669143 . 10.1016/j.devcel.2004.10.018. free .
• Cox R, Mason-Gamer RJ, Jackson CL, Segev N . Phylogenetic analysis of Sec7-domain-containing Arf nucleotide exchangers. . Mol. Biol. Cell . 15 . 4 . 1487–505 . 2004 . 14742722 . 10.1091/mbc.E03-06-0443 . 379250.
• Dosemeci A, Makusky AJ, Jankowska-Stephens E, etal . Composition of the synaptic PSD-95 complex. . Mol. Cell. Proteomics . 6 . 10 . 1749–60 . 2007 . 17623647 . 10.1074/mcp.M700040-MCP200 . free . 2096750.
• Tsuchiya KD, Greally JM, Yi Y, etal . Comparative sequence and x-inactivation analyses of a domain of escape in human xp11.2 and the conserved segment in mouse. . Genome Res. . 14 . 7 . 1275–84 . 2004 . 15197169 . 10.1101/gr.2575904 . 442142.
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2002 . 12477932 . 10.1073/pnas.242603899 . 139241. 2002PNAS...9916899M . free .
• Barbe L, Lundberg E, Oksvold P, etal . Toward a confocal subcellular atlas of the human proteome. . Mol. Cell. Proteomics . 7 . 3 . 499–508 . 2008 . 18029348 . 10.1074/mcp.M700325-MCP200 . free .
• Murphy JA, Jensen ON, Walikonis RS . BRAG1, a Sec7 domain-containing protein, is a component of the postsynaptic density of excitatory synapses. . Brain Res. . 1120 . 1 . 35–45 . 2006 . 17045249 . 10.1016/j.brainres.2006.08.096 . 31721234 .

Notes and References

1. Web site: Entrez Gene: IQ motif and Sec7 domain 2.
2. Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O . 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. . 5 . 1 . 31–9 . February 1998 . 9628581 . 10.1093/dnares/5.1.31. free .
3. Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A, Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Futreal PA, Stratton MR, Gécz J . Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability . Nat. Genet. . 42 . 6 . 486–8 . June 2010 . 20473311 . 10.1038/ng.588 . 3632837 .