IQSEC2

From Wikipedia, the free encyclopedia
Jump to: navigation, search
IQ motif and Sec7 domain 2
Identifiers
Symbols IQSEC2 ; BRAG1; MRX1
External IDs OMIM300522 MGI3528396 HomoloGene19407 GeneCards: IQSEC2 Gene
Orthologs
Species Human Mouse
Entrez 23096 245666
Ensembl ENSG00000124313 ENSMUSG00000041115
UniProt Q5JU85 Q5DU25
RefSeq (mRNA) NM_001111125 NM_001005475
RefSeq (protein) NP_001104595 NP_001005475
Location (UCSC) Chr HG1433_PATCH:
52.98 – 53.06 Mb
Chr X:
152.14 – 152.23 Mb
PubMed search [1] [2]

IQ motif and Sec7 domain 2 is a protein that in humans is encoded by the IQSEC2 gene.[1][2]

Function[edit]

The IQSEC2 gene encodes a guanine nucleotide exchange factor for the ARF family of GTP-binding proteins (see for example ARF1).[3]

Clinical significance[edit]

It is associated with X-Linked mental retardation 1.[3]

References[edit]

  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. ^ 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]