UBE2D2
Description
The UBE2D2 (ubiquitin conjugating enzyme E2 D2) is a protein-coding gene located on chromosome 5.
The UBE2D2 gene encodes a protein called ubiquitin-conjugating enzyme E2 D2. This protein is part of the ubiquitination pathway, a cellular process that targets proteins for degradation. UBE2D2 functions as an E2 enzyme, which accepts ubiquitin from another enzyme (E1) and then attaches it to specific target proteins. This process of ubiquitination is essential for controlling the stability and function of many proteins in the cell. UBE2D2 is known to be involved in the ubiquitination of the tumor suppressor protein p53, which is regulated by an E3 ligase. Two different forms of the UBE2D2 protein can be produced through alternative splicing.
UBE2D2, also known as E2 ubiquitin-conjugating enzyme D2, accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins, leading to their degradation. It specifically catalyzes 'Lys-48'-linked polyubiquitination, a process crucial for targeting proteins for destruction. UBE2D2 plays a key role in regulating the stability of various proteins, including the tumor suppressor p53, PEX5, SQSTM1, NFKBIA, GCM1, and MAVS. It is also involved in the autoubiquitination of STUB1 and TRAF6. Furthermore, UBE2D2 is essential for viral activation of IRF3 and interacts with several E3 ubiquitin ligases, including SCF, CBLC, PJA1, and PJA2.
UBE2D2 is also known as E2(17)KB2, PUBC1, UBC4, UBC4/5, UBCH4, UBCH5B.
Associated Diseases
- breast cancer
- precocious puberty, central, 2
- 46,XY complete gonadal dysgenesis
- familial male-limited precocious puberty
- 46,XY partial gonadal dysgenesis
- spastic paraplegia-precocious puberty syndrome
- aromatase deficiency
- partial androgen insensitivity syndrome
- 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
