Biology:IQSEC2
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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]
References
- ↑ "Entrez Gene: IQ motif and Sec7 domain 2". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23096.
- ↑ "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. doi:10.1093/dnares/5.1.31. PMID 9628581.
- ↑ 3.0 3.1 "Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability". Nat. Genet. 42 (6): 486–8. June 2010. doi:10.1038/ng.588. PMID 20473311.
Further reading
- "The DNA sequence of the human X chromosome.". Nature 434 (7031): 325–37. 2005. doi:10.1038/nature03440. PMID 15772651. Bibcode: 2005Natur.434..325R.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "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. doi:10.1016/j.devcel.2004.10.018. PMID 15669143.
- "Phylogenetic analysis of Sec7-domain-containing Arf nucleotide exchangers.". Mol. Biol. Cell 15 (4): 1487–505. 2004. doi:10.1091/mbc.E03-06-0443. PMID 14742722.
- "Composition of the synaptic PSD-95 complex.". Mol. Cell. Proteomics 6 (10): 1749–60. 2007. doi:10.1074/mcp.M700040-MCP200. PMID 17623647.
- "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. doi:10.1101/gr.2575904. PMID 15197169.
- "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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Toward a confocal subcellular atlas of the human proteome.". Mol. Cell. Proteomics 7 (3): 499–508. 2008. doi:10.1074/mcp.M700325-MCP200. PMID 18029348.
- "BRAG1, a Sec7 domain-containing protein, is a component of the postsynaptic density of excitatory synapses.". Brain Res. 1120 (1): 35–45. 2006. doi:10.1016/j.brainres.2006.08.096. PMID 17045249.
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