IQSEC2

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IQSEC2
Identifiers
Aliases IQSEC2, BRAG1, MRX1, MRX78, IQ motif and Sec7 domain 2
External IDs MGI: 3528396 HomoloGene: 19407 GeneCards: IQSEC2
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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 [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

IQ motif and Sec7 domain 2 is a protein that in humans is encoded by the IQSEC2 gene.[3][4]

Function[edit]

The IQSEC2 gene encodes a guanine nucleotide exchange factor for the ARF family of GTP-binding proteins (see for example ARF1).[5]

Clinical significance[edit]

It is associated with X-Linked mental retardation 1.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ "Entrez Gene: IQ motif and Sec7 domain 2". 
  4. ^ 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. 
  5. ^ 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. PMID 20473311. 

Further reading[edit]