IQSEC2

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

IQSEC2
Identifiers
AliasesIQSEC2, BRAG1, MRX1, MRX78, IQ motif and Sec7 domain 2, MRX18, IQ-ArfGEF, IQ motif and Sec7 domain ArfGEF 2, XLID1
External IDsOMIM: 300522 MGI: 3528396 HomoloGene: 19407 GeneCards: IQSEC2
Orthologs
SpeciesHumanMouse
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

Location (UCSC)Chr X: 53.23 – 53.32 MbChr X: 150.93 – 151.01 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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


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