Gene Symbol: MDGA2
Description: MAM domain containing glycosylphosphatidylinositol anchor 2
Alias: MAMDC1, c14_5286, MAM domain-containing glycosylphosphatidylinositol anchor protein 2, MAM domain containing 1
Species: human
Products:     MDGA2

Top Publications

  1. Litwack E, Babey R, Buser R, Gesemann M, O Leary D. Identification and characterization of two novel brain-derived immunoglobulin superfamily members with a unique structural organization. Mol Cell Neurosci. 2004;25:263-74 pubmed
    ..cloning and characterization of one of these molecules, now called MDGA1, and a closely related homologue, MDGA2. Analyses of the full-length coding region of MDGA1 and MDGA2 indicate that they encode proteins that comprise a ..
  2. van den Oord E, Kuo P, Hartmann A, Webb B, Moller H, Hettema J, et al. Genomewide association analysis followed by a replication study implicates a novel candidate gene for neuroticism. Arch Gen Psychiatry. 2008;65:1062-71 pubmed publisher
    ..most promising results in the GWAS and replication samples were single-nucleotide polymorphisms (SNPs) in the gene MAMDC1. These SNPs all tagged the same 2 haplotypes and had P values of 10(-5) to 10(-6) in the GWAS sample and of ...
  3. Hettema J, van den Oord E, An S, Kendler K, Chen X. Follow-up association study of novel neuroticism gene MAMDC1. Psychiatr Genet. 2009;19:213-4 pubmed publisher
  4. Bucan M, Abrahams B, Wang K, Glessner J, Herman E, Sonnenblick L, et al. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet. 2009;5:e1000536 pubmed publisher
    ..3x10(-5)). Less is known about MDGA2, likewise observed to be case-specific (p = 1.3x10(-4))...
  5. Connor S, Elegheert J, Xie Y, Craig A. Pumping the brakes: suppression of synapse development by MDGA-neuroligin interactions. Curr Opin Neurobiol. 2019;57:71-80 pubmed publisher
    ..Surprisingly, analyses of mouse mutants revealed a functional divergence, with targeted mutation of Mdga1 and Mdga2 elevating inhibitory and excitatory synapses, respectively, on hippocampal pyramidal neurons...
  6. Kim P, Scott M, Meador Woodruff J. Abnormal ER quality control of neural GPI-anchored proteins via dysfunction in ER export processing in the frontal cortex of elderly subjects with schizophrenia. Transl Psychiatry. 2019;9:6 pubmed publisher
    ..expression of known GPI-APs that have been previously implicated in schizophrenia, including GPC1, NCAM, MDGA2, and EPHA1, using Triton X-114 phase separation...
  7. Heinzman J, Hoth K, Cho M, Sakornsakolpat P, Regan E, Make B, et al. GWAS and systems biology analysis of depressive symptoms among smokers from the COPDGene cohort. J Affect Disord. 2019;243:16-22 pubmed publisher
    ..One of the top SNPs, rs12036147 (p = 1.28 × 10-6), is near CHRM3. Another SNP was near MDGA2 (rs17118176, p = 3.52 × 10-6)...
  8. Moore J, Oliver P, Finelli M, Lee S, Lickiss T, Molnár Z, et al. Laf4/Aff3, a gene involved in intellectual disability, is required for cellular migration in the mouse cerebral cortex. PLoS ONE. 2014;9:e105933 pubmed publisher that Laf4 is required for normal cellular migration in the developing cortex and have subsequently identified Mdga2, an important structural protein in neurodevelopment, as a target of Laf4 transcriptional activity...
  9. Hu Y, Deng L, Zhang J, Fang X, Mei P, Cao X, et al. A Pooling Genome-Wide Association Study Combining a Pathway Analysis for Typical Sporadic Parkinson's Disease in the Han Population of Chinese Mainland. Mol Neurobiol. 2016;53:4302-18 pubmed publisher
    ..among the 22 potential loci implicated, PRDM2/KIAA1026 (kgp8090149), TSG1/MANEA (kgp154172), PDE10A (kgp8130520), MDGA2 (rs9323124), ATPBD4/LOC100288892 (kgp11333367), ZFP64/TSHZ2 (kgp4156164), PAQR3/ARD1B (kgp9482779), FLJ23172/..

More Information


  1. Gangwar S, Zhong X, Seshadrinathan S, Chen H, Machius M, Rudenko G. Molecular Mechanism of MDGA1: Regulation of Neuroligin 2:Neurexin Trans-synaptic Bridges. Neuron. 2017;94:1132-1141.e4 pubmed publisher
    ..The cell-surface molecules, MAM domain-containing glycosylphosphatidylinositol anchor 1 (MDGA1) and 2 (MDGA2), regulate trans-synaptic adhesion between neurexins and neuroligins, impacting NLGN2 and NLGN1, respectively...
  2. Connor S, Ammendrup Johnsen I, Chan A, Kishimoto Y, Murayama C, Kurihara N, et al. Altered Cortical Dynamics and Cognitive Function upon Haploinsufficiency of the Autism-Linked Excitatory Synaptic Suppressor MDGA2. Neuron. 2016;91:1052-1068 pubmed publisher
    Mutations in a synaptic organizing pathway contribute to autism. Autism-associated mutations in MDGA2 (MAM domain containing glycosylphosphatidylinositol anchor 2) are thought to reduce excitatory/inhibitory transmission...
  3. Loh K, Stawski P, Draycott A, Udeshi N, Lehrman E, Wilton D, et al. Proteomic Analysis of Unbounded Cellular Compartments: Synaptic Clefts. Cell. 2016;166:1295-1307.e21 pubmed publisher
    ..The molecular differentiation of each cleft allowed us to identify Mdga2 as a potential specificity factor influencing Neuroligin-2's recruitment of presynaptic neurotransmitters at ..
  4. Kim J, Kim D, Won S, Han K, Park D, Cho E, et al. Structural Insights into Modulation of Neurexin-Neuroligin Trans-synaptic Adhesion by MDGA1/Neuroligin-2 Complex. Neuron. 2017;94:1121-1131.e6 pubmed publisher
    ..Furthermore, MDGA1 competed with neurexins for NL2 via its Ig1 domain. The binding affinities of both MDGA1 and MDGA2 for NL1 and NL2 were similar, consistent with the structural prediction of similar binding interfaces...
  5. Wang J, Bansal A, Martin M, Germer S, Benayed R, Essioux L, et al. Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. Pharmacogenomics J. 2013;13:235-41 pubmed publisher
    ..This study suggests that it is unlikely that a major genetic determinant of response exists, and it illustrates the complexity of performing genome-wide association scans in clinical trials. ..
  6. Wang K, Liang Q, Li X, Tsoi H, Zhang J, Wang H, et al. MDGA2 is a novel tumour suppressor cooperating with DMAP1 in gastric cancer and is associated with disease outcome. Gut. 2016;65:1619-31 pubmed publisher
    Using the promoter methylation assay, we have shown that MDGA2 (MAM domain containing glycosylphosphatidylinositol anchor 2) is preferentially methylated in gastric cancer...
  7. Kurose K, Hiratsuka K, Ishiwata K, Nishikawa J, Nonen S, Azuma J, et al. Genome-wide association study of SSRI/SNRI-induced sexual dysfunction in a Japanese cohort with major depression. Psychiatry Res. 2012;198:424-9 pubmed publisher
    ..92, 95% confidence interval (CI)=1.79-4.76). These SNPs mapped to the intronic region of the MDGA2 gene...
  8. Wu Q, Yu B, Chen Y, Shao Y, Zhang J, Zhong Q, et al. Single-nucleotide polymorphisms of MAMDC1 are associated with rash and photosensitivity, but not disease risk, of systemic lupus erythematosus in Chinese mainland population. Clin Rheumatol. 2011;30:1373-8 pubmed publisher
    ..Recently, the polymorphisms in MAMDC1 gene have been reported to associate with disease risk of SLE in European population...
  9. Joset P, Wacker A, Babey R, Ingold E, Andermatt I, Stoeckli E, et al. Rostral growth of commissural axons requires the cell adhesion molecule MDGA2. Neural Dev. 2011;6:22 pubmed publisher
    ..b>MDGA2, a recently discovered cell adhesion molecule of the IgCAM superfamily, is highly expressed in dorsolaterally ..
  10. Pettem K, Yokomaku D, Takahashi H, Ge Y, Craig A. Interaction between autism-linked MDGAs and neuroligins suppresses inhibitory synapse development. J Cell Biol. 2013;200:321-36 pubmed publisher
    ..Here, we show that MDGA1 and MDGA2 bound to neuroligin-2 inhibitory synapse-organizing protein, also implicated in neurodevelopmental disorders...
  11. Noth I, Zhang Y, Ma S, Flores C, Barber M, Huang Y, et al. Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study. Lancet Respir Med. 2013;1:309-317 pubmed publisher
    ..Our aim was to identify additional common variants associated with susceptibility and ultimately mortality in IPF...
  12. Heck A, Pfister H, Czamara D, Muller Myhsok B, Pütz B, Lucae S, et al. Evidence for associations between MDGA2 polymorphisms and harm avoidance: replication and extension of a genome-wide association finding. Psychiatr Genet. 2011;21:257-60 pubmed publisher a genome-wide association study the MAM domain containing glycosylphosphatidylinositol anchor 2 gene (MDGA2 or MAMDC1) as a new candidate for neuroticism...
  13. Hellquist A, Zucchelli M, Lindgren C, Saarialho Kere U, Järvinen T, Koskenmies S, et al. Identification of MAMDC1 as a candidate susceptibility gene for systemic lupus erythematosus (SLE). PLoS ONE. 2009;4:e8037 pubmed publisher
    ..UK and two independent case-control cohorts from Finland and Sweden, indicated that a novel uncharacterized gene, MAMDC1 (MAM domain containing glycosylphosphatidylinositol anchor 2, also known as MDGA2, MIM 611128), represents a ..
  14. Yang Q, Kathiresan S, Lin J, Tofler G, O Donnell C. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. BMC Med Genet. 2007;8 Suppl 1:S12 pubmed
    ..Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes. ..