IQSEC2

IQ motif and Sec7 domain 2 is a protein that in humans is encoded by the IQSEC2 gene.[5][6]

IQSEC2
Identifiers
Aliases	IQSEC2, BRAG1, MRX1, MRX78, IQ motif and Sec7 domain 2, MRX18, IQ-ArfGEF, IQ motif and Sec7 domain ArfGEF 2
External IDs	OMIM: 300522 MGI: 3528396 HomoloGene: 19407 GeneCards: IQSEC2
Gene location (Human) Chr. X chromosome (human)[1] Band Xp11.22 Start 53,225,828 bp[1] End 53,321,350 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X F3|X 68.46 cM Start 152,144,268 bp[2] End 152,225,236 bp[2]
Gene ontology Molecular function • ARF guanyl-nucleotide exchange factor activity Cellular component • cytoplasm • Schaffer collateral - CA1 synapse Biological process • actin cytoskeleton organization • regulation of ARF protein signal transduction • modulation of chemical synaptic transmission • regulation of neurotransmitter receptor localization to postsynaptic specialization membrane Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	23096	245666
Ensembl	ENSG00000124313	ENSMUSG00000041115
UniProt	Q5JU85	Q5DU25
RefSeq (mRNA)	NM_001111125 NM_001243197 NM_015075	NM_001005475 NM_001114664
RefSeq (protein)	NP_001104595 NP_001230126 NP_055890	NP_001005475 NP_001108136
Location (UCSC)	Chr X: 53.23 – 53.32 Mb	Chr X: 152.14 – 152.23 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

The IQSEC2 gene encodes a guanine nucleotide exchange factor for the ARF family of GTP-binding proteins (see for example ARF1).[7]

Clinical significance

It is associated with X-Linked mental retardation 1.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000124313 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000041115 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: IQ motif and Sec7 domain 2".
6. 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.
7. 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.

Further reading

• Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–37. Bibcode:2005Natur.434..325R. doi:10.1038/nature03440. PMC 2665286. PMID 15772651.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• 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.
• Dosemeci A, Makusky AJ, Jankowska-Stephens E, et al. (2007). "Composition of the synaptic PSD-95 complex". Mol. Cell. Proteomics. 6 (10): 1749–60. doi:10.1074/mcp.M700040-MCP200. PMC 2096750. PMID 17623647.
• Tsuchiya KD, Greally JM, Yi Y, et al. (2004). "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. doi:10.1101/gr.2575904. PMC 442142. PMID 15197169.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• 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.