NME2
Description
The NME2 (NME/NM23 nucleoside diphosphate kinase 2) is a protein-coding gene located on chromosome 17.
NME2, also known as Nucleoside diphosphate kinase B, is an enzyme encoded by the NME2 gene in humans. It exists as a hexamer composed of 'A' (encoded by NME1) and 'B' (encoded by NME2) isoforms. Multiple splice variants of the gene exist, all encoding the same isoform. Co-transcription of NME2 and its upstream neighbor, NME1, produces transcripts encoding a fusion protein composed of sequences from both individual genes. NME2 has been shown to interact with NME3 and HERC5.
NME2 plays a crucial role in the synthesis of nucleoside triphosphates, excluding ATP. It employs a ping-pong mechanism, utilizing a phosphorylated active-site intermediate to transfer the ATP gamma phosphate to the NDP beta phosphate. Furthermore, NME2 negatively regulates Rho activity by interacting with AKAP13/LBC. NME2 functions as a transcriptional activator of the MYC gene, exhibiting non-specific DNA binding. It specifically interacts with single-stranded guanine- and cytosine-rich strands within the NHE III(1) region of the MYC gene promoter, but does not bind to duplex NHE III(1). Notably, NME2 exhibits G-quadruplex (G4) DNA-binding activity, independent of its nucleotide-binding and kinase activity. It binds both folded and unfolded G4 structures with similar low nanomolar affinities, stabilizing folded G4s regardless of their initial state. NME2 also exhibits histidine protein kinase activity.
NME2 is also known as NDKB, NDPK-B, NDPKB, NM23-H2, NM23B, PUF.
Associated Diseases
- cancer
- severe combined immunodeficiency due to CARD11 deficiency
- Mayer-Rokitansky-Kuster-Hauser syndrome
- hyper-IgM syndrome type 3
- hyper-IgE recurrent infection syndrome 5, autosomal recessive
- hepatorenocardiac degenerative fibrosis
- severe combined immunodeficiency due to CTPS1 deficiency
- 46,XX ovotesticular disorder of sex development
- duplication of urethra
