GeneID: 200



Names

Common Name: MAGI2 Type: Gene
Chromosome: 7 (NC_000007.14) Locus: NG_011487.1 (MAGI2)
HUGO Symbol: MAGI2 Full Name: membrane associated guanylate kinase, WW and PDZ domain containing 2
Exons: 22 Introns: 21

Description:
MAGI2 has structural similarity to members of the membrane-associated guanylate kinase (MAGUK) family, which contain multiple PDZ domains and function as protein-protein interaction modules. The encoded protein functions as a scaffold for the assembly of multiprotein signaling complexes and is essential for development and maintenance of synapses, including receptor endocytosis and postendocytotic trafficking. MAGI2-dependent endocytosis is also essential for ciliogenesis. Polymorphisms in this gene associated with coeliac disease and ulcerative colitis, possibly through tight junction-mediated barrier defects. One polymorphism was also associated with HbF levels in individuals with sickle cell disease.

Synonyms: AIP1 , AIP-1 , ARIP1 , SSCAM , MAGI-2 , ACVRIP1

Comments:
N/A

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage.

Publications / Origin

  1. Wu X, Hepner K, Castelino-Prabhu S, Do D, Kaye MB, Yuan XJ, Wood J, Ross C, Sawyers CL, Whang YE, Evidence for regulation of the PTEN tumor suppressor by a membrane-localized multi-PDZ domain containing scaffold protein MAGI-2., Proc. Natl. Acad. Sci. U.S.A. , 97(8), 4233-8, 2000 PubMed
  2. Wapenaar MC, Monsuur AJ, van Bodegraven AA, Weersma RK, Bevova MR, Linskens RK, Howdle P, Holmes G, Mulder CJ, Dijkstra G, van Heel DA, Wijmenga C, Associations with tight junction genes PARD3 and MAGI2 in Dutch patients point to a common barrier defect for coeliac disease and ulcerative colitis., Gut , 57(4), 463-7, 2008 PubMed
  3. Mtatiro SN, Singh T, Rooks H, Mgaya J, Mariki H, Soka D, Mmbando B, Msaki E, Kolder I, Thein SL, Menzel S, Cox SE, Makani J, Barrett JC, Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania., PLoS ONE , 9(11), e111464, 2014 PubMed
  4. Bauß K, Knapp B, Jores P, Roepman R, Kremer H, Wijk EV, Märker T, Wolfrum U, Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis., Hum. Mol. Genet. , 23(15), 3923-42, 2014 PubMed
Created on 2017-01-30 12:24:11, Last reviewed on (Show full history)


Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.

Please publish modules in offcanvas position.