RUVBL2 RuvB like AAA ATPase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RUVBL2provided by HGNC
Official Full Name: RuvB like AAA ATPase 2provided by HGNC
Primary source: HGNC:HGNC:10475
See related: Ensembl:ENSG00000183207 MIM:604788; AllianceGenome:HGNC:10475
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RVB2; TIH2; ECP51; TIP48; CGI-46; ECP-51; INO80J; REPTIN; TIP49B; TAP54-beta
Summary: 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. Functional analysis showed that this gene product has both ATPase and DNA helicase activities. 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. [provided by RefSeq, Jul 2008]
Expression: Broad expression in testis (RPKM 64.1), colon (RPKM 12.0) and 24 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 19q13.33

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (48993448..49015995)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (51988347..52010769)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (49496705..49519252)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Assembly of the asymmetric human gamma-tubulin ring complex by RUVBL1-RUVBL2 AAA ATPase.
Title: Assembly of the asymmetric human γ-tubulin ring complex by RUVBL1-RUVBL2 AAA ATPase.
RuvB-Like Protein 2 Interacts with the NS1 Protein of Influenza A Virus and Affects Apoptosis That Is Counterbalanced by Type I Interferons.
Title: RuvB-Like Protein 2 Interacts with the NS1 Protein of Influenza A Virus and Affects Apoptosis That Is Counterbalanced by Type I Interferons.
HEATR1, a novel interactor of Pontin/Reptin, stabilizes Pontin/Reptin and promotes cell proliferation of oral squamous cell carcinoma.
Title: HEATR1, a novel interactor of Pontin/Reptin, stabilizes Pontin/Reptin and promotes cell proliferation of oral squamous cell carcinoma.
Novel HIF-2alpha interaction with Reptin52 impairs HIF-2 transcriptional activity and EPO secretion.
Title: Novel HIF-2α interaction with Reptin52 impairs HIF-2 transcriptional activity and EPO secretion.
Regulation of RUVBL1-RUVBL2 AAA-ATPases by the nonsense-mediated mRNA decay factor DHX34, as evidenced by Cryo-EM.
Title: Regulation of RUVBL1-RUVBL2 AAA-ATPases by the nonsense-mediated mRNA decay factor DHX34, as evidenced by Cryo-EM.
NOPCHAP1 is a PAQosome cofactor that helps loading NOP58 on RUVBL1/2 during box C/D snoRNP biogenesis.
Title: NOPCHAP1 is a PAQosome cofactor that helps loading NOP58 on RUVBL1/2 during box C/D snoRNP biogenesis.
These data demonstrate that RUVBL2 is essential for the oncogenic function of c-MYB in AML by governing inhibition of myeloid differentiation. They also indicate that targeting the control of c-MYB function by RUVBL2 is a promising approach to developing future anti-AML therapies.
Title: The AAA+ATPase RUVBL2 is essential for the oncogenic function of c-MYB in acute myeloid leukemia.
We identify RUVBL1 and RUVBL2 as novel interactors of Ebola virus NP and EBOV NP recruitment of the R2TP complex, which may provide novel targets for broad-acting anti-EBOV therapeutics.
Title: Identification of RUVBL1 and RUVBL2 as Novel Cellular Interactors of the Ebola Virus Nucleoprotein.
Analytical ultracentrifugation and cryo electron microscopy analyses performed on hsRuvBL2 highlight an oligomer plasticity that possibly reflects different physiological conformations of the protein in the cell, as well as that single-stranded DNA (ssDNA) can promote the oligomerization of monomeric hsRuvBL2.
Title: X-ray structure of full-length human RuvB-Like 2 - mechanistic insights into coupling between ATP binding and mechanical action.
the INO80 complex, including Ino80 and actin-related proteins, is assembled around a single RUVBL1 (Tip49a) and RUVBL2 (Tip49b) AAA+ heterohexamer
Title: Cryo-EM structures of the human INO80 chromatin-remodeling complex.

Submit: New GeneRIF Correction See all GeneRIFs (58)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Replication interactions

Interaction	Pubs
shRNA downregulation of RUVBL2 reduces the the infectivity of HIV-1 produced by HEK293T cells; RUVBL2 enhances HIV-1 infectivity	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with RUVBL2	PubMed
Envelope transmembrane glycoprotein gp41	env	HIV-1 Env antagonizes RUVBL2 by competitive interaction with HIV-1 MA	PubMed
Pr55(Gag)	gag	HIV-1 Gag expression is inhibited by RUVBL2 in a HIV-1 MA-dependent manner	PubMed
Tat	tat	The core of the p400/TRRAP complex, consists of BAF53A, P400, RUVBL1, RUVBL2, TRRAP, are identified to interact with HIV-1 Tat in Jurkat cell	PubMed
matrix	gag	HIV-1 MA interacts with RUVBL2 (RVB2)	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

NoName (e-PCR)
- UniSTS:9484

D8S2279 (e-PCR)
- UniSTS:473907

RH47492 (e-PCR)
- UniSTS:47570

A002E14 (e-PCR)
- UniSTS:16607

D19S879 (e-PCR), detects polymorphism
- UniSTS:38116

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ADP binding	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IDA Inferred from Direct Assay more info	PubMed
enables ATP hydrolysis activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ATPase binding	IEA Inferred from Electronic Annotation more info
enables DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables DNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II core promoter sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables TBP-class protein binding	IDA Inferred from Direct Assay more info	PubMed
enables TFIID-class transcription factor complex binding	IEA Inferred from Electronic Annotation more info
enables beta-catenin binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables promoter-enhancer loop anchoring activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables transcription corepressor activity	IDA Inferred from Direct Assay more info	PubMed
enables unfolded protein binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA duplex unwinding	IEA Inferred from Electronic Annotation more info
involved_in DNA recombination	IEA Inferred from Electronic Annotation more info
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in box C/D snoRNP assembly	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in cellular response to UV	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to estradiol stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin remodeling	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in chromatin remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of protein localization to chromatin	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in histone H2A acetylation	IDA Inferred from Direct Assay more info	PubMed
involved_in histone H4 acetylation	IDA Inferred from Direct Assay more info	PubMed
involved_in histone acetylation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in histone acetylation	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA repair	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of telomerase RNA localization to Cajal body	HMP more info	PubMed
involved_in positive regulation of telomere maintenance in response to DNA damage	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein folding	TAS Traceable Author Statement more info	PubMed
involved_in protein stabilization	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of DNA repair	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA strand elongation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of chromosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of double-strand break repair	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of embryonic development	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in telomere maintenance	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of Ino80 complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of Ino80 complex	IDA Inferred from Direct Assay more info	PubMed
part_of MLL1 complex	IDA Inferred from Direct Assay more info	PubMed
part_of NuA4 histone acetyltransferase complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of NuA4 histone acetyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
part_of R2TP complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of R2TP complex	IDA Inferred from Direct Assay more info	PubMed
part_of R2TP complex	IPI Inferred from Physical Interaction more info	PubMed
part_of RPAP3/R2TP/prefoldin-like complex	IPI Inferred from Physical Interaction more info	PubMed
part_of Swr1 complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of Swr1 complex	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in dynein axonemal particle	ISS Inferred from Sequence or Structural Similarity more info
part_of euchromatin	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear matrix	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of nucleosome	IDA Inferred from Direct Assay more info	PubMed
part_of nucleosome	NAS Non-traceable Author Statement more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein folding chaperone complex	IPI Inferred from Physical Interaction more info	PubMed
part_of ribonucleoprotein complex	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: ruvB-like 2

Names: 48 kDa TATA box-binding protein-interacting protein; 48 kDa TBP-interacting protein; 51 kDa erythrocyte cytosolic protein; INO80 complex subunit J; RuvB (E coli homolog)-like 2; TIP60-associated protein 54-beta; erythrocyte cytosolic protein, 51-KD; repressing pontin 52; reptin52 protein

NP_001308119.1

EC 3.6.4.12

NP_001308120.1

EC 3.6.4.12

NP_006657.1

EC 3.6.4.12

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_033041.1 RefSeqGene

Range

4989..27072

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001321190.2 → NP_001308119.1 ruvB-like 2 isoform 2

Status: REVIEWED

Source sequence(s)

AC008687, AK027762

UniProtKB/TrEMBL

B3KNL2

Related

ENSP00000486242.1, ENST00000627972.1

Conserved Domains (1) summary

COG1224
Location:9 → 417

TIP49; DNA helicase TIP49, TBP-interacting protein [Transcription]
NM_001321191.1 → NP_001308120.1 ruvB-like 2 isoform 3

Status: REVIEWED

Source sequence(s)

AC008687

UniProtKB/Swiss-Prot

Q9Y230

Related

ENSP00000471524.1, ENST00000601968.5

Conserved Domains (1) summary

COG1224
Location:1 → 406

TIP49; DNA helicase TIP49, TBP-interacting protein [Transcription]
NM_006666.3 → NP_006657.1 ruvB-like 2 isoform 1

See identical proteins and their annotated locations for NP_006657.1

Status: REVIEWED

Source sequence(s)

AC008687, BC004531

Consensus CDS

CCDS42588.1

UniProtKB/Swiss-Prot

Q9Y230, Q9Y361

Related

ENSP00000473172.1, ENST00000595090.6

Conserved Domains (1) summary

COG1224
Location:15 → 451

TIP49; DNA helicase TIP49, TBP-interacting protein [Transcription]