SH3RF2
Description
The SH3RF2 (SH3 domain containing ring finger 2) is a protein-coding gene located on chromosome 5.
SH3RF2 is an E3 ubiquitin ligase that plays a critical role in regulating cellular processes, including apoptosis and protein stability. It acts as an anti-apoptotic regulator of the JNK pathway by ubiquitinating and promoting the degradation of SH3RF1, a scaffold protein essential for pro-apoptotic JNK activation. SH3RF2 facilitates the TNF-alpha-mediated recruitment of adapter proteins TRADD and RIPK1 to TNFRSF1A and regulates PAK4 protein stability by inhibiting its ubiquitin-mediated proteasomal degradation. Furthermore, it inhibits PPP1CA phosphatase activity.
SH3RF2 is also known as HEPP1, POSHER, PPP1R39, RNF158.
Associated Diseases
- Alzheimer disease
- 15q11q13 microduplication syndrome
- developmental and epileptic encephalopathy, 9
- cortical dysplasia-focal epilepsy syndrome
- developmental and epileptic encephalopathy 104
- intellectual developmental disorder with paroxysmal dyskinesia or seizures
- intellectual disability-epilepsy-extrapyramidal syndrome
- developmental and epileptic encephalopathy, 43
- Lennox-Gastaut syndrome
- behavioral variant of frontotemporal dementia
- childhood absence epilepsy
- developmental and epileptic encephalopathy, 2
