AAK1
AP2 associated kinase 1
Summary
This gene encodes a member of the SNF1 subfamily of serine/threonine protein kinases. Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clathrin assembly, interact with membrane-bound receptors, and recruit encodytic accessory factors. The encoded protein interacts with and phosphorylates a subunit of the AP-2 complex, which promotes binding of AP-2 to sorting signals found in membrane-bound receptors and subsequent receptor endocytosis. Its kinase activity is stimulated by clathrin. This kinase has been shown to play an important role in regulating the clathrin-mediated endocytosis of the rabies virus, facilitating infection. Inhibitors of this kinase are being studied as candidate therapeutics to disrupt the entry of viruses, including SARS-CoV-2, into target cells. It is also involved in positive regulation of Notch pathway signaling in mammals. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Aug 2020]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs57171084 | 2:69,693,747 | T/C | downstream gene variant | — |
| rs2465901275 | 2:69,706,115 | G/A | — | uncertain significance |
| rs771175410 | 2:69,706,157 | G/C | — | uncertain significance |
| rs549137333 | 2:69,706,160 | C/T | — | uncertain significance |
| rs761855107 | 2:69,706,172 | G/T | — | uncertain significance |
| rs371548381 | 2:69,708,048 | G/T | — | uncertain significance |
| rs1041249379 | 2:69,708,079 | C/G | — | uncertain significance |
| rs372879743 | 2:69,723,120 | G/A | — | uncertain significance |
| rs1002582437 | 2:69,723,159 | C/T | — | uncertain significance |
| rs7577851 | 2:69,723,710 | C/T | intron variant | — |
| rs766166655 | 2:69,732,794 | C/T | — | uncertain significance |
| rs150421832 | 2:69,734,560 | A/C | — | benign |
| rs55889248 | 2:69,734,636 | G/A | — | benign |
| rs149603964 | 2:69,734,661 | C/T | — | uncertain significance |
| rs1483843832 | 2:69,734,667 | G/T | — | uncertain significance |
| rs1676302345 | 2:69,736,432 | C/T | — | uncertain significance |
| rs1480436162 | 2:69,736,471 | C/T | — | uncertain significance |
| rs746057391 | 2:69,736,514 | G/C | — | uncertain significance |
| rs2466045219 | 2:69,741,616 | G/A | — | uncertain significance |
| rs775940649 | 2:69,741,626 | G/A | — | uncertain significance |
| rs1320693564 | 2:69,746,102 | T/G | — | uncertain significance |
| rs369547631 | 2:69,746,129 | G/A | — | uncertain significance |
| rs2466063314 | 2:69,746,165 | T/A | — | uncertain significance |
| rs2466063581 | 2:69,746,219 | G/A | — | uncertain significance |
| rs778479356 | 2:69,746,246 | G/T | — | uncertain significance |
| rs376087475 | 2:69,746,249 | G/A | — | uncertain significance |
| rs368747487 | 2:69,746,298 | G/A | — | uncertain significance |
| rs1234840702 | 2:69,757,791 | C/T | — | uncertain significance |
| rs1416755652 | 2:69,759,204 | C/T | — | uncertain significance |
| rs367711211 | 2:69,769,699 | G/A | — | uncertain significance |
| rs201891835 | 2:69,769,729 | T/C | — | uncertain significance |
| rs373886498 | 2:69,771,610 | C/T | — | uncertain significance |
| rs201743554 | 2:69,771,644 | A/T | — | likely benign |
| rs966123440 | 2:69,784,062 | C/T | — | uncertain significance |
| rs199727001 | 2:69,784,074 | T/C | — | uncertain significance |
| rs12987661 | 2:69,813,458 | T/C | intron variant | — |
| rs764268391 | 2:69,870,066 | C/G | — | uncertain significance |
| rs375078382 | 2:69,870,087 | C/G | — | uncertain significance |
| rs1675812467 | 2:69,870,114 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.