USP17L2
Description
The USP17L2 (ubiquitin specific peptidase 17 like family member 2) is a protein-coding gene located on chromosome 8.
USP17L2 is a deubiquitinating enzyme that removes ubiquitin from specific proteins, playing a crucial role in regulating various cellular processes. It controls cell proliferation by deubiquitinating and inhibiting RCE1, thereby influencing the localization and activation of the small GTPases NRAS and HRAS. Additionally, USP17L2 promotes cell cycle progression by deubiquitinating CDC25A, preventing its degradation by the proteasome during the G1/S and G2/M phases. Furthermore, USP17L2 regulates cell proliferation and apoptosis by deubiquitinating SUDS3, a regulator of histone deacetylation. It also regulates cell migration through activation of the Rho family GTPases RAC1A, CDC42, and RHOA. USP17L2 stimulates the cellular response to viral infection by cleaving 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains from the cytoplasmic innate immune receptors RIGI and IFIH1.
USP17L2 is also known as DUB-3, DUB3, USP17.
Associated Diseases
- esophageal cancer
- cancer
- immunodeficiency 19
- combined immunodeficiency with skin granulomas
- immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
- severe combined immunodeficiency due to IKK2 deficiency
- ring chromosome Y
- severe combined immunodeficiency due to LAT deficiency
- obesity due to congenital leptin deficiency
- immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
- immunodeficiency 105
- obesity due to leptin receptor gene deficiency
- spermatogenic failure 65
- common variable immunodeficiency
- immunodeficiency 18
- immunodeficiency 76
