GeneID: 200

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

Number of entries/variants: 1

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
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
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
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