MDGA2

MAM domain containing glycosylphosphatidylinositol anchor 2

Summary

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]

Known Variants46 total

rsidPosition (GRCh37)AllelesClassClinVar
rs123514:47,309,496G/Tdownstream gene variant
rs1287945314:47,309,879A/C
rs188063093914:47,311,156G/Auncertain significance
rs293321114:47,313,541G/Aintron variant
rs293321314:47,318,777C/Tintron variant
rs250257308714:47,342,779A/Cuncertain significance
rs250257583914:47,343,322T/Cuncertain significance
rs250271872814:47,389,250C/Tuncertain significance
rs77858873914:47,389,286T/Auncertain significance
rs7323721614:47,402,789T/Aintron variant
rs1288338414:47,403,684A/T
rs7688829714:47,426,686C/Gbenign
rs37329659414:47,426,790C/Tuncertain significance
rs1162705614:47,454,986G/Aregulatory region variant
rs250309263914:47,504,427C/Tuncertain significance
rs96161614:47,521,489T/A
rs77903237414:47,530,612C/Glikely benign
rs250318033714:47,530,731C/Tuncertain significance
rs250330868114:47,566,084T/Cuncertain significance
rs20045917014:47,566,145G/Abenign
rs250253772814:47,600,936A/Cuncertain significance
rs7324804414:47,600,946A/Gbenign
rs250253805514:47,600,956G/Auncertain significance
rs250259785614:47,613,387A/Guncertain significance
rs250259846514:47,613,475A/Tuncertain significance
rs1711817614:47,685,859A/Gintron variant
rs250296982914:47,687,251T/Cuncertain significance
rs98467515014:47,687,261C/Alikely benign
rs7701214714:47,761,992C/Gintron variant
rs250328076314:47,770,691A/Cuncertain significance
rs18749842814:47,770,699T/Cuncertain significance
rs229792614:47,774,501G/C
rs241605414:47,824,521C/A
rs715984114:47,863,835C/G
rs1711855214:47,874,557A/Gintron variant
rs18902542814:47,901,391G/Cintron variant
rs18763647214:47,915,125A/Gupstream gene variant
rs715937614:47,921,389A/G
rs241608314:47,935,940G/C
rs116035114:48,015,982A/T
rs714438314:48,040,375G/Aintron variant
rs414391214:48,054,159A/T
rs7961897714:48,083,441T/Aintron variant
rs800460814:48,087,414T/C
rs800627014:48,105,875C/T
rs13845926014:48,134,801G/Aintron variant

Gene information from NCBI Gene. Variant classifications from ClinVar.