IQ motif and Sec7 domain 2 is a protein that in humans is encoded by the IQSEC2 gene .[ 5] [ 6]
Clinical significance
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^ a b c GRCh38: Ensembl release 89: ENSG00000124313 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041115 – Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Entrez Gene: IQ motif and Sec7 domain 2" .
^ Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (February 1998). "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. doi :10.1093/dnares/5.1.31 . PMID 9628581 .
^ a b 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 (June 2010). "Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability" . Nat. Genet . 42 (6): 486–8. doi :10.1038/ng.588 . PMC 3632837 . PMID 20473311 .
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Filippova GN, Cheng MK, Moore JM, et al. (2005). "Boundaries between chromosomal domains of X inactivation and escape bind CTCF and lack CpG methylation during early development" . Dev. Cell . 8 (1): 31–42. doi :10.1016/j.devcel.2004.10.018 . PMID 15669143 .
Cox R, Mason-Gamer RJ, Jackson CL, Segev N (2004). "Phylogenetic analysis of Sec7-domain-containing Arf nucleotide exchangers" . Mol. Biol. Cell . 15 (4): 1487–505. doi :10.1091/mbc.E03-06-0443 . PMC 379250 . PMID 14742722 .
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Barbe L, Lundberg E, Oksvold P, et al. (2008). "Toward a confocal subcellular atlas of the human proteome" . Mol. Cell. Proteomics . 7 (3): 499–508. doi :10.1074/mcp.M700325-MCP200 . PMID 18029348 .
Murphy JA, Jensen ON, Walikonis RS (2006). "BRAG1, a Sec7 domain-containing protein, is a component of the postsynaptic density of excitatory synapses". Brain Res . 1120 (1): 35–45. doi :10.1016/j.brainres.2006.08.096 . PMID 17045249 . S2CID 31721234 .