MDGA2 Chromosome 14

MAM domain containing glycosylphosphatidylinositol anchor 2

1 variant 1 Health Risk

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What This Gene Does

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]

Gene Info

Gene Group

I-set domain containing

Locus Type

gene with protein product

Location

14q21.3

Ensembl

ENSG00000139915

Associated Conditions (1)

Intellectual disability

Key Variants

RS2504344357

Likely pathogenic

Intellectual disability, Intellectual disability

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS2504344357	Health Risk	Likely pathogenic	Intellectual disability, Intellectual disability