AKIRIN2
akirin 2
Summary
Enables enzyme binding activity; identical protein binding activity; and protein-macromolecule adaptor activity. Involved in proteasome localization and protein import into nucleus. Acts upstream of with a positive effect on nuclear protein quality control by the ubiquitin-proteasome system. Located in nucleoplasm. Is active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants7 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs63749091 | 6:88,385,579 | G/A | — | benign |
| rs2481733867 | 6:88,387,547 | G/A | — | uncertain significance |
| rs149384256 | 6:88,391,334 | T/C | — | benign |
| rs772319870 | 6:88,391,367 | G/A | — | uncertain significance |
| rs760192931 | 6:88,391,415 | C/T | — | uncertain significance |
| rs768403412 | 6:88,411,320 | G/C | — | uncertain significance |
| rs761344991 | 6:88,411,341 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.