MDGA2

Chr 14AR

MAM domain containing glycosylphosphatidylinositol anchor 2

Also known as: DEE122, MAMDC1, c14_5286

NCBI Gene: 161357 ENSG00000139915 UniProt: Q7Z553 OMIM: 611128

MDGA2 encodes a protein predicted to regulate synapse organization and motor neuron differentiation, with involvement in cell-cell interactions at GABAergic and glutamatergic synapses. Mutations cause neurodevelopmental disorders with intellectual disability and motor dysfunction. The gene shows autosomal recessive inheritance and is highly constrained against loss-of-function variants, indicating intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in regulation of synapse organization and spinal cord motor neuron differentiation. Predicted to act upstream of or within several processes, including motor behavior; negative regulation of neuron apoptotic process; and neuron migration. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in GABA-ergic synapse; glutamatergic synapse; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 122MIM #621608

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.24

LOEUF· LoF intol.

LOF

Mechanism· G2P