AP1G2
adaptor related protein complex 1 subunit gamma 2
Summary
Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. This protein along with the complex is thought to function at some trafficking step in the complex pathways between the trans-Golgi network and the cell surface. [provided by RefSeq, Aug 2017]
Known Variants63 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1041194257 | 14:24,028,987 | T/G | — | uncertain significance |
| rs573100612 | 14:24,029,022 | T/C | — | uncertain significance |
| rs375486046 | 14:24,029,157 | T/C | — | uncertain significance |
| rs201878577 | 14:24,029,196 | C/T | — | likely benign |
| rs376053073 | 14:24,029,550 | G/T | — | uncertain significance |
| rs779464524 | 14:24,029,603 | A/C | — | uncertain significance |
| rs374370524 | 14:24,030,517 | G/A | — | uncertain significance |
| rs1884522699 | 14:24,030,564 | G/A | — | uncertain significance |
| rs1453588626 | 14:24,030,632 | C/G | — | uncertain significance |
| rs374762900 | 14:24,030,809 | C/T | — | uncertain significance |
| rs2502594861 | 14:24,030,819 | G/C | — | uncertain significance |
| rs767888618 | 14:24,031,184 | A/G | — | uncertain significance |
| rs760833509 | 14:24,031,189 | C/T | — | uncertain significance |
| rs371365778 | 14:24,031,190 | G/A | — | uncertain significance |
| rs2502633325 | 14:24,031,262 | C/T | — | uncertain significance |
| rs200780955 | 14:24,031,267 | C/T | — | uncertain significance |
| rs968535646 | 14:24,031,564 | G/A | — | uncertain significance |
| rs182497595 | 14:24,031,580 | C/G | — | uncertain significance |
| rs146997360 | 14:24,031,588 | C/A | — | uncertain significance |
| rs909611866 | 14:24,031,726 | A/G | — | likely benign |
| rs1345881989 | 14:24,032,605 | G/T | — | uncertain significance |
| rs747117877 | 14:24,032,623 | C/T | — | uncertain significance |
| rs143631339 | 14:24,032,627 | G/A | — | uncertain significance |
| rs148842762 | 14:24,032,690 | C/T | — | uncertain significance |
| rs200923646 | 14:24,032,695 | C/T | — | uncertain significance |
| rs752351764 | 14:24,032,710 | G/A | — | uncertain significance |
| rs370083184 | 14:24,032,794 | G/A | — | uncertain significance |
| rs201169755 | 14:24,032,813 | T/C | — | uncertain significance |
| rs774636208 | 14:24,032,976 | G/A | — | uncertain significance |
| rs138055024 | 14:24,033,018 | C/T | — | uncertain significance |
| rs145798010 | 14:24,033,039 | A/G | — | uncertain significance |
| rs2281680 | 14:24,033,070 | C/T | splice region variant | — |
| rs775894566 | 14:24,033,256 | G/A | — | uncertain significance |
| rs373712506 | 14:24,033,268 | C/T | — | uncertain significance |
| rs375966427 | 14:24,033,279 | C/G | — | uncertain significance |
| rs374474478 | 14:24,033,305 | A/C | — | uncertain significance |
| rs764901611 | 14:24,033,593 | A/G | — | uncertain significance |
| rs146088258 | 14:24,033,791 | G/A | — | uncertain significance |
| rs778792354 | 14:24,033,814 | G/A | — | uncertain significance |
| rs577817126 | 14:24,033,832 | T/G | — | uncertain significance |
| rs566425276 | 14:24,034,396 | G/A | — | uncertain significance |
| rs771279552 | 14:24,034,870 | G/A | — | uncertain significance |
| rs1266963277 | 14:24,034,871 | T/C | — | uncertain significance |
| rs371393479 | 14:24,034,883 | G/A | — | uncertain significance |
| rs77436356 | 14:24,035,016 | C/T | coding sequence variant | — |
| rs762921889 | 14:24,035,037 | C/A | — | uncertain significance |
| rs142102587 | 14:24,035,047 | G/A | missense variant | — |
| rs145732620 | 14:24,035,052 | G/C | — | uncertain significance |
| rs1480566266 | 14:24,035,053 | C/T | — | uncertain significance |
| rs763454097 | 14:24,035,066 | G/A | — | uncertain significance |
| rs143609508 | 14:24,035,071 | G/A | — | uncertain significance |
| rs747144998 | 14:24,035,089 | C/T | — | uncertain significance |
| rs146007337 | 14:24,035,300 | C/G | — | uncertain significance |
| rs200202756 | 14:24,035,494 | C/T | — | likely pathogenic |
| rs544809551 | 14:24,035,507 | T/G | — | uncertain significance |
| rs150816856 | 14:24,035,548 | C/T | — | uncertain significance |
| rs375067563 | 14:24,035,584 | C/T | — | uncertain significance |
| rs756055614 | 14:24,035,602 | A/G | — | uncertain significance |
| rs2139390248 | 14:24,035,841 | A/G | — | uncertain significance |
| rs2503031449 | 14:24,035,843 | C/T | — | uncertain significance |
| rs775643985 | 14:24,035,895 | T/C | — | uncertain significance |
| rs377264042 | 14:24,036,376 | G/T | — | uncertain significance |
| rs1888467164 | 14:24,036,397 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.