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

Gene ID: 10856, updated on 6-Jan-2019

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
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

Genomic context

See RUVBL2 in Genome Data Viewer
Location:
19q13.33
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (48993448..49015995)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49496738..49519183)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ferritin light chain Neighboring gene glycogen synthase 1 Neighboring gene skeletal muscle cis-regulatory module in GYS1 intron Neighboring gene microRNA 6798 Neighboring gene uncharacterized LOC101059948 Neighboring gene luteinizing hormone beta polypeptide Neighboring gene chorionic gonadotropin subunit beta 3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ADP binding IEA
Inferred from Electronic Annotation
more info
 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATP-dependent 5'-3' DNA helicase activity IEA
Inferred from Electronic Annotation
more info
 
ATP-dependent DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
ATPase binding IEA
Inferred from Electronic Annotation
more info
 
DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II core promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II distal enhancer sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
TBP-class protein binding IDA
Inferred from Direct Assay
more info
PubMed 
TFIID-class transcription factor complex binding IEA
Inferred from Electronic Annotation
more info
 
beta-catenin binding IDA
Inferred from Direct Assay
more info
PubMed 
chromatin DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
transcription corepressor activity IDA
Inferred from Direct Assay
more info
PubMed 
unfolded protein binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
 
DNA recombination IEA
Inferred from Electronic Annotation
more info
 
DNA repair IEA
Inferred from Electronic Annotation
more info
 
box C/D snoRNP assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to UV IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to estradiol stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
chromatin remodeling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromatin remodeling IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of protein localization to chromatin IMP
Inferred from Mutant Phenotype
more info
PubMed 
histone H2A acetylation IDA
Inferred from Direct Assay
more info
PubMed 
histone H4 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
histone acetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of canonical Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of estrogen receptor binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
positive regulation of histone acetylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of telomerase RNA localization to Cajal body HMP PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein folding TAS
Traceable Author Statement
more info
PubMed 
regulation of growth IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcriptional activation by promoter-enhancer looping IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Ino80 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Ino80 complex IDA
Inferred from Direct Assay
more info
PubMed 
MLL1 complex IDA
Inferred from Direct Assay
more info
PubMed 
NuA4 histone acetyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NuA4 histone acetyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 
R2TP complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
R2TP complex IDA
Inferred from Direct Assay
more info
PubMed 
Swr1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Swr1 complex IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular exosome HDA PubMed 
membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear euchromatin IDA
Inferred from Direct Assay
more info
PubMed 
nuclear matrix IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
ribonucleoprotein complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

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
NP_001308120.1
NP_006657.1
XP_011524632.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_033041.1 RefSeqGene

    Range
    4550..27097
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AC008687, AK027762
    UniProtKB/TrEMBL
    B3KNL2
    Conserved Domains (3) summary
    cd00009
    Location:235328
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    pfam06068
    Location:7378
    TIP49; TIP49 C-terminus
    cl21455
    Location:3989
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. NM_001321191.1NP_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
    pfam06068
    Location:1367
    TIP49; TIP49 C-terminus
  3. NM_006666.3NP_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
    Related
    ENSP00000473172.1, ENST00000595090.5
    Conserved Domains (1) summary
    pfam06068
    Location:21412
    TIP49; TIP49 C-terminus

RNA

  1. NR_135578.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC008687, BC008355

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    48993448..49015995
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526330.1XP_011524632.1  ruvB-like 2 isoform X1

    See identical proteins and their annotated locations for XP_011524632.1

    UniProtKB/Swiss-Prot
    Q9Y230
    Related
    ENSP00000486242.1, ENST00000627972.1
    Conserved Domains (1) summary
    pfam06068
    Location:1367
    TIP49; TIP49 C-terminus
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