IQSEC2: Difference between revisions

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== Function ==
== Function ==


The IQSEC2 gene encodes a [[guanine nucleotide exchange factor]] for the ARF family of [[G protein|GTP-binding protein]]s (see for example [[ARF1]]).<ref name="pmid20473311">{{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 | url = | issn = }}</ref>
The IQSEC2 gene encodes a [[guanine nucleotide exchange factor]] for the ARF family of [[G protein|GTP-binding protein]]s (see for example [[ARF1]]).<ref name="pmid20473311">{{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 | url = | issn = | pmc = 3632837 }}</ref>


== Clinical significance ==
== Clinical significance ==

Latest revision as of 21:20, 15 May 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

  1. "Entrez Gene: IQ motif and Sec7 domain 2".
  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.
  3. 3.0 3.1 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