PUM2
Description
The PUM2 (pumilio RNA binding family member 2) is a protein-coding gene located on chromosome 2.
PUM2 is an RNA-binding protein encoded by the PUM2 gene in humans.
PUM2 is a sequence-specific RNA-binding protein that acts as a post-transcriptional repressor by binding to the 3'-UTR of mRNA targets. It binds to an RNA consensus sequence, the Pumilio Response Element (PRE), 5'-UGUANAUA-3', which is related to the Nanos Response Element (NRE). PUM2 mediates post-transcriptional repression of transcripts through various mechanisms: it directly recruits the CCR4-POP2-NOT deadenylase leading to translational inhibition and mRNA degradation. It also mediates deadenylation-independent repression by promoting the accessibility of miRNAs. PUM2 acts as a post-transcriptional repressor of E2F3 mRNAs by binding to its 3'-UTR and facilitating miRNA regulation. It plays a role in cytoplasmic sensing of viral infection. PUM2 represses a program of genes necessary for maintaining genomic stability, such as key mitotic, DNA repair and DNA replication factors. Its ability to repress these target mRNAs is regulated by the lncRNA NORAD (non-coding RNA activated by DNA damage), which, due to its high abundance and multitude of PUMILIO binding sites, can sequester a significant fraction of PUM1 and PUM2 in the cytoplasm. PUM2 may regulate DCUN1D3 mRNA levels. It may also support proliferation and self-renewal of stem cells. PUM2, along with PUM1, binds specifically to miRNA MIR199A precursor and regulates miRNA MIR199A expression at a postranscriptional level.
PUM2 is also known as PUMH2, PUML2.
Associated Diseases
- isolated congenital hypogonadotropic hypogonadism
- 46,XX testicular disorder of sex development
- 46,XY complete gonadal dysgenesis
- familial male-limited precocious puberty
- breast cancer
