RUVBL2

Description

The RUVBL2 (RuvB like AAA ATPase 2) is a protein-coding gene located on chromosome 19.

RuvB-like 2 (E. coli), also known as RUVBL2, is a human gene coding for a protein belonging to the AAA+ family of proteins.

== Function == This gene encodes the second human homologue of the bacterial RuvB gene. Bacterial RuvB protein is a DNA helicase essential for homologous recombination and DNA double-strand break repair. However, the evidence for whether RUVBL2 has DNA helicase activity is contradictory. This gene is physically linked to the CGB/LHB gene cluster on chromosome 19q13.3, and is very close (55 nt) to the LHB gene, in the opposite orientation.

== Interactions == RUVBL2 has been shown to interact with RuvB-like 1 and Activating transcription factor 2.

RUVBL2 exhibits single-stranded DNA-stimulated ATPase and ATP-dependent DNA helicase (5' to 3') activity, facilitated by its hexameric structure. This hexamerization is essential for ATP hydrolysis, with adjacent subunits contributing to ATPase activity. RUVBL2 is a component of the NuA4 histone acetyltransferase complex, which plays a crucial role in activating transcription by acetylating nucleosomal histones H4 and H2A. This acetylation modifies nucleosome-DNA interactions and promotes interactions with other transcription-regulating proteins. The NuA4 complex is involved in various cellular processes, including oncogene-mediated growth induction, tumor suppressor-mediated growth arrest, replicative senescence, apoptosis, and DNA repair. RUVBL1 and RUVBL2, in association with EP400, contribute to the ATPase and helicase activities of the NuA4 complex. NuA4 is also directly involved in DNA repair by being recruited to sites of DNA damage. RUVBL2 is part of a SWR1-like complex that specifically removes histone H2A.Z/H2AZ1 from the nucleosome. It is proposed as a core component of the chromatin remodeling INO80 complex, exhibiting DNA- and nucleosome-activated ATPase activity and catalyzing ATP-dependent nucleosome sliding. RUVBL2 is essential for MYC-mediated oncogenic transformation and modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex. It can inhibit the transcriptional activity of ATF2. RUVBL2 is involved in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway, negatively regulating the expression of ER stress response genes. It may also play a role in regulating the composition of the U5 snRNP complex.

RUVBL2 is also known as CGI-46, ECP-51, ECP51, INO80J, REPTIN, RVB2, TAP54-beta, TIH2, TIP48, TIP49B.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing