SH3GL2

SH3 domain containing GRB2 like 2, endophilin A1

Summary

Enables identical protein binding activity. Involved in negative regulation of blood-brain barrier permeability; negative regulation of gene expression; and negative regulation of signal transduction. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants25 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs73422620	9:17,684,457	G/A	intron variant	—
rs118012901	9:17,691,584	A/T	intron variant	—
rs78314758	9:17,695,593	G/A	intron variant	—
rs140048432	9:17,700,893	T/C	intron variant	—
rs10756907	9:17,727,065	A/G	intron variant	—
rs1536076	9:17,731,921	T/G	intron variant	—
rs1284302235	9:17,761,445	T/C	—	uncertain significance
rs751434805	9:17,761,498	C/G	—	uncertain significance
rs139376322	9:17,786,428	C/T	—	benign
rs1010309536	9:17,787,380	C/T	—	uncertain significance
rs772230406	9:17,787,410	C/T	—	uncertain significance
rs2488931758	9:17,787,425	G/C	—	uncertain significance
rs1019297708	9:17,787,462	T/G	—	uncertain significance
rs781631698	9:17,789,475	G/A	—	uncertain significance
rs750231629	9:17,789,488	G/C	—	uncertain significance
rs138259584	9:17,789,534	C/T	—	uncertain significance
rs375439748	9:17,789,543	A/G	—	uncertain significance
rs184274084	9:17,791,314	C/T	—	uncertain significance
rs373328540	9:17,793,426	G/C	—	uncertain significance
rs773215753	9:17,793,466	T/C	—	uncertain significance
rs200824412	9:17,793,469	C/T	—	uncertain significance
rs139561767	9:17,793,472	A/T	—	uncertain significance
rs1824192990	9:17,793,487	A/G	—	uncertain significance
rs941321083	9:17,795,641	C/G	—	uncertain significance
rs781457075	9:17,795,673	A/G	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.