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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MDGA2
MAM domain containing glycosylphosphatidylinositol anchor 2
Chromosome 14 · 14q21.3
NCBI Gene: 161357Ensembl: ENSG00000139915.22HGNC: HGNC:19835UniProt: Q7Z553
30PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nervous system developmentspinal cord motor neuron differentiationextracellular regionplasma membraneAbnormality of the skeletal systemsmoking initiationobesityattention deficit hyperactivity disorder
✦AI Summary

MDGA2 is a membrane-anchored glycosylphosphatidylinositol protein that functions as an excitatory synaptic suppressor with critical roles in nervous system development and synaptic regulation 1. At the molecular level, MDGA2 regulates glutamatergic synapse function through multiple mechanisms: it competes with BDNF for TrkB binding to suppress BDNF/TrkB signaling 2, interacts with EphB2 to block Ephrin-B1-mediated activation 1, and modulates neuroligin-2 at inhibitory synapses 3. MDGA2 stability is regulated by RPS23RG1, which antagonizes SORT1-mediated lysosomal degradation 4. Disease relevance is substantial: homozygous loss-of-function MDGA2 variants cause developmental and epileptic encephalopathy with infantile hypotonia, severe developmental delay, and intractable seizures 5. Heterozygous Mdga2 deficiency in mice produces autism-relevant behavioral changes and increased excitatory synaptic transmission 2. Additionally, elevated MDGA2 plasma levels are associated with increased lung adenocarcinoma risk 6, while MDGA2 polymorphisms correlate with harm avoidance personality traits 7. In cardiovascular contexts, miR-9-mediated MDGA2 suppression promotes endothelial cell proliferation and reduces apoptosis under hypertensive conditions 8, suggesting MDGA2 normally promotes cell death. These findings position MDGA2 as a therapeutic target for autism spectrum disorder and developmental encephalopathy.

Sources cited
1
MDGA2 is an excitatory synapse-specific suppressor that negatively modulates EphB2 receptor signaling and NMDAR-mediated postsynaptic responses
PMID: 40316130
2
MDGA2 interacts with TrkB to suppress BDNF signaling; MDGA2 deficiency causes increased excitatory synapse transmission and autism-like behaviors
PMID: 40168357
3
MDGA2 is identified as a specificity factor influencing Neuroligin-2's recruitment at inhibitory synapses
PMID: 27565350
4
Homozygous loss-of-function MDGA2 variants cause developmental and epileptic encephalopathy with infantile hypotonia, developmental delay, and intractable seizures
PMID: 41570816
5
RPS23RG1 antagonizes SORT1-mediated lysosomal degradation of MDGA2; MDGA2 deficiency produces autism-like phenotypes
PMID: 39816685
6
Elevated plasma MDGA2 levels are causally associated with increased lung adenocarcinoma risk
PMID: 38576019
7
miR-9 targets MDGA2 to suppress apoptosis and promote endothelial cell proliferation under hypertensive conditions
PMID: 31345003
8
MDGA2 polymorphisms are associated with harm avoidance personality traits related to neuroticism
PMID: 21399569
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.35Weak
smoking initiationOpen Targets
0.33Weak
obesityOpen Targets
0.33Weak
attention deficit hyperactivity disorderOpen Targets
0.31Weak
protozoa infectious diseaseOpen Targets
0.30Weak
type 2 diabetes mellitusOpen Targets
0.30Weak
substance abuseOpen Targets
0.29Weak
adverse effectOpen Targets
0.28Weak
hypotensionOpen Targets
0.28Weak
malunion fractureOpen Targets
0.28Weak
drug allergyOpen Targets
0.28Weak
color vision disorderOpen Targets
0.27Weak
multinodular goiterOpen Targets
0.27Weak
alcohol drinkingOpen Targets
0.27Weak
nutritional deficiency diseaseOpen Targets
0.27Weak
Intellectual disabilityOpen Targets
0.27Weak
response to stimulusOpen Targets
0.26Weak
mathematical abilityOpen Targets
0.26Weak
chondromalaciaOpen Targets
0.25Weak
poisoningOpen Targets
0.25Weak
Pathogenic Variants1
NM_001113498.3(MDGA2):c.278_279dup (p.Ala94fs)Likely pathogenic
Intellectual disability
★☆☆☆2022→ Residue 94
View on ClinVar ↗
Related Genes
HOXB2Shared pathway100%MOBPShared pathway100%SCRG1Shared pathway100%IRF2BPLShared pathway100%NRSN2Shared pathway100%GNG8Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
20%
Liver
2%
Ovary
2%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
MDGA2HOXB2MOBPSCRG1IRF2BPLNRSN2GNG8
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q7Z553
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.36Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.26 [0.18–0.36]
RankingsWhere MDGA2 stands among ~20K protein-coding genes
  • #11,963of 20,598
    Most Researched30
  • #5,266of 5,498
    Most Pathogenic Variants1
  • #1,635of 17,882
    Most Constrained (LOEUF)0.36 · top 10%
Genes detectedMDGA2
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
Proteomic Analysis of Unbounded Cellular Compartments: Synaptic Clefts.
PMID: 27565350
Cell · 2016
1.00
2
Systematic proteome-wide Mendelian randomization using the human plasma proteome to identify therapeutic targets for lung adenocarcinoma.
PMID: 38576019
J Transl Med · 2024
0.90
3
miRNA-9 inhibits apoptosis and promotes proliferation in angiotensin II-induced human umbilical vein endothelial cells by targeting MDGA2.
PMID: 31345003
Rev Cardiovasc Med · 2019
0.80
4
Mdga2 deficiency leads to an aberrant activation of BDNF/TrkB signaling that underlies autism-relevant synaptic and behavioral changes in mice.
PMID: 40168357
PLoS Biol · 2025
0.70
5
MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.
PMID: 41570816
Am J Hum Genet · 2026
0.60