IQSEC2
{{Short description|Protein-coding gene in the species Homo sapiens}}
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{{Infobox_gene}}
IQ motif and Sec7 domain 2 is a protein that in humans is encoded by the IQSEC2 gene.{{cite web | title = Entrez Gene: IQ motif and Sec7 domain 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23096}}{{cite journal |vauthors=Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O | title = 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 | journal = DNA Res. | volume = 5 | issue = 1 | pages = 31–9 |date=February 1998 | pmid = 9628581 | doi = 10.1093/dnares/5.1.31| doi-access = free }}
Function
The IQSEC2 gene encodes a guanine nucleotide exchange factor for the ARF family of GTP-binding proteins (see for example ARF1).{{cite journal |vauthors=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 | title = Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability | journal = Nat. Genet. | volume = 42 | issue = 6 | pages = 486–8 |date=June 2010 | pmid = 20473311 | doi = 10.1038/ng.588 | pmc = 3632837 }}
Clinical significance
It is associated with X-Linked mental retardation 1.
References
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Further reading
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- {{cite journal |vauthors=Ross MT, Grafham DV, Coffey AJ, etal |title=The DNA sequence of the human X chromosome. |journal=Nature |volume=434 |issue= 7031 |pages= 325–37 |year= 2005 |pmid= 15772651 |doi= 10.1038/nature03440 |pmc=2665286|bibcode=2005Natur.434..325R }}
- {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
- {{cite journal |vauthors=Filippova GN, Cheng MK, Moore JM, etal |title=Boundaries between chromosomal domains of X inactivation and escape bind CTCF and lack CpG methylation during early development. |journal=Dev. Cell |volume=8 |issue= 1 |pages= 31–42 |year= 2005 |pmid= 15669143 |doi= 10.1016/j.devcel.2004.10.018|doi-access=free }}
- {{cite journal |vauthors=Cox R, Mason-Gamer RJ, Jackson CL, Segev N |title=Phylogenetic analysis of Sec7-domain-containing Arf nucleotide exchangers. |journal=Mol. Biol. Cell |volume=15 |issue= 4 |pages= 1487–505 |year= 2004 |pmid= 14742722 |doi= 10.1091/mbc.E03-06-0443 |pmc=379250}}
- {{cite journal |vauthors=Dosemeci A, Makusky AJ, Jankowska-Stephens E, etal |title=Composition of the synaptic PSD-95 complex. |journal=Mol. Cell. Proteomics |volume=6 |issue= 10 |pages= 1749–60 |year= 2007 |pmid= 17623647 |doi= 10.1074/mcp.M700040-MCP200 |doi-access=free |pmc=2096750}}
- {{cite journal |vauthors=Tsuchiya KD, Greally JM, Yi Y, etal |title=Comparative sequence and x-inactivation analyses of a domain of escape in human xp11.2 and the conserved segment in mouse. |journal=Genome Res. |volume=14 |issue= 7 |pages= 1275–84 |year= 2004 |pmid= 15197169 |doi= 10.1101/gr.2575904 |pmc=442142}}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241|bibcode=2002PNAS...9916899M |doi-access=free }}
- {{cite journal |vauthors=Barbe L, Lundberg E, Oksvold P, etal |title=Toward a confocal subcellular atlas of the human proteome. |journal=Mol. Cell. Proteomics |volume=7 |issue= 3 |pages= 499–508 |year= 2008 |pmid= 18029348 |doi= 10.1074/mcp.M700325-MCP200 |doi-access= free }}
- {{cite journal |vauthors=Murphy JA, Jensen ON, Walikonis RS |title=BRAG1, a Sec7 domain-containing protein, is a component of the postsynaptic density of excitatory synapses. |journal=Brain Res. |volume=1120 |issue= 1 |pages= 35–45 |year= 2006 |pmid= 17045249 |doi= 10.1016/j.brainres.2006.08.096 |s2cid=31721234 }}
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{{GTP-binding protein regulators}}
{{gene-X-stub}}