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Aliases for RUVBL2 Gene

Aliases for RUVBL2 Gene

  • RuvB Like AAA ATPase 2 2 3 5
  • INO80 Complex Subunit J 2 3 4
  • 48 KDa TATA Box-Binding Protein-Interacting Protein 3 4
  • 51 KDa Erythrocyte Cytosolic Protein 3 4
  • TIP60-Associated Protein 54-Beta 3 4
  • 48 KDa TBP-Interacting Protein 3 4
  • RuvB (E Coli Homolog)-Like 2 2 3
  • Repressing Pontin 52 3 4
  • TAP54-Beta 3 4
  • Reptin 2 3
  • ECP-51 3 4
  • INO80J 3 4
  • TIP49B 3 4
  • TIP48 3 4
  • Erythrocyte Cytosolic Protein, 51-KD 3
  • RuvB-Like 2 (E. Coli) 2
  • Reptin52 Protein 3
  • RuvB-Like 2 3
  • EC 3.6.4.12 4
  • Reptin 52 4
  • EC 3.6.1 61
  • CGI-46 3
  • ECP51 3
  • RVB2 3
  • TIH2 3

External Ids for RUVBL2 Gene

Previous GeneCards Identifiers for RUVBL2 Gene

  • GC19P050155
  • GC19P049865
  • GC19P054173
  • GC19P054188
  • GC19P054007
  • GC19P049497
  • GC19P045873

Summaries for RUVBL2 Gene

Entrez Gene Summary for RUVBL2 Gene

  • 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]

GeneCards Summary for RUVBL2 Gene

RUVBL2 (RuvB Like AAA ATPase 2) is a Protein Coding gene. Among its related pathways are Validated targets of C-MYC transcriptional activation and C-MYC pathway. GO annotations related to this gene include identical protein binding and unfolded protein binding. An important paralog of this gene is RUVBL1.

UniProtKB/Swiss-Prot for RUVBL2 Gene

  • Possesses single-stranded DNA-stimulated ATPase and ATP-dependent DNA helicase (5 to 3) activity; hexamerization is thought to be critical for ATP hydrolysis and adjacent subunits in the ring-like structure contribute to the ATPase activity.

  • Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AFZ from the nucleosome.

  • Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.

  • Plays an essential role in oncogenic transformation by MYC and also modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex. May also inhibit the transcriptional activity of ATF2.

  • Involved in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway where it negatively regulates expression of ER stress response genes.

Gene Wiki entry for RUVBL2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RUVBL2 Gene

Genomics for RUVBL2 Gene

Regulatory Elements for RUVBL2 Gene

Enhancers for RUVBL2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G048958 2.1 FANTOM5 Ensembl ENCODE dbSUPER 16.1 -29.3 -29324 10.2 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 PPP1R15A PRR12 NUP62 IZUMO1 RUVBL2 CA11 SEC1P SNORD35B C19orf68 ALDH16A1
GH19G049017 1.2 FANTOM5 ENCODE 23.5 +25.2 25197 2.6 ATF1 AGO1 SIN3A GLIS2 KLF7 SP3 MXD4 REST KAT8 ZNF592 RUVBL2 LOC101059948 CGB3 GYS1 CGB7 NTF4 LHB
GH19G048988 1.6 FANTOM5 ENCODE 12.2 -1.3 -1300 7.2 CREB3L1 MLX AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 GRWD1 NUP62 PRR12 SNORD35A PIH1D1 KDELR1 AKT1S1 ALDH16A1 SNORD35B LOC101059948
GH19G048780 1.6 Ensembl ENCODE dbSUPER 10.2 -211.6 -211643 2.9 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ZFP64 ARID4B ZNF766 ZNF143 FOS PRR12 PIH1D1 GRWD1 SNORD35A DKKL1 KDELR1 SNORD35B CYTH2 ENSG00000268093 RPS11
GH19G049857 1.4 FANTOM5 ENCODE 10.2 +867.4 867371 6.7 HDGF PKNOX1 ARNT AGO1 ZFP64 ZNF2 ZNF302 PAF1 SP3 TAF15 PRR12 PTOV1-AS2 ENSG00000268047 PIH1D1 SNORD35A DKKL1 SNORD35B PNKP FUZ RPS11
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RUVBL2 on UCSC Golden Path with GeneCards custom track

Promoters for RUVBL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000110817 47 2401 CREB3L1 MLX ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3

Genomic Location for RUVBL2 Gene

Chromosome:
19
Start:
48,993,353 bp from pter
End:
49,015,995 bp from pter
Size:
22,643 bases
Orientation:
Plus strand

Genomic View for RUVBL2 Gene

Genes around RUVBL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RUVBL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RUVBL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RUVBL2 Gene

Proteins for RUVBL2 Gene

  • Protein details for RUVBL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y230-RUVB2_HUMAN
    Recommended name:
    RuvB-like 2
    Protein Accession:
    Q9Y230
    Secondary Accessions:
    • B3KQ59
    • E7ETE5
    • Q6FIB9
    • Q6PK27
    • Q9Y361

    Protein attributes for RUVBL2 Gene

    Size:
    463 amino acids
    Molecular mass:
    51157 Da
    Quaternary structure:
    • Forms homohexameric rings (Probable). Can form a dodecamer with RUVBL1 made of two stacked hexameric rings; however, even though RUVBL1 and RUVBL2 are present in equimolar ratio, the oligomeric status of each hexamer is not known. Oligomerization may regulate binding to nucleic acids and conversely, binding to nucleic acids may affect the dodecameric assembly. Interacts with the transcriptional activation domain of MYC. Interacts With ATF2. Component of the RNA polymerase II holoenzyme complex. May also act to bridge the LEF1/TCF1-CTNNB1 complex and TBP. Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41, VPS72/YL1 and MEAF6. The NuA4 complex interacts with MYC and the adenovirus E1A protein. RUVBL2 interacts with EP400. Component of a NuA4-related complex which contains EP400, TRRAP/PAF400, SRCAP, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, actin, ACTL6A/BAF53A, VPS72 and YEATS4/GAS41. Interacts with NPAT. Component of the chromatin-remodeling INO80 complex; specifically part of a complex module associated with the helicase ATP-binding and the helicase C-terminal domain of INO80. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, MYST1/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts with IGHMBP2. Interacts with TELO2. Interacts with HINT1. Component of a SWR1-like complex. Component of the R2TP complex composed at least of PIHD1, RUVBL1, RUVBL2 and RPAP3 (PubMed:20864032). Interacts with ITFG1 (PubMed:25437307). Interacts with WAC; WAC positively regulates MTOR activity by promoting the assembly of the TTT complex composed of TELO2, TTI1 and TTI2 and the RUVBL complex composed of RUVBL1 and RUVBL2 into the TTT-RUVBL complex which leads to the dimerization of the mTORC1 complex and its subsequent activation (PubMed:26812014).
    SequenceCaution:
    • Sequence=AAD34041.1; Type=Frameshift; Positions=401; Evidence={ECO:0000305}; Sequence=AAH08355.1; Type=Frameshift; Positions=191; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RUVBL2 Gene

    Alternative splice isoforms for RUVBL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RUVBL2 Gene

Selected DME Specific Peptides for RUVBL2 Gene

Q9Y230:
  • CPDGELQ
  • EVREQIN
  • IAGRAVL
  • SPHGIPID
  • VYSLFLDE
  • IEGEVVEIQIDR
  • NRGITRIRGT
  • ERIGAHSH
  • GELQKRKEVVHTV
  • GFLALFSGDTGEI
  • VLFIDEVH
  • TGKTAIAMG
  • PGVLFIDE
  • METIYDLG
  • LNRALES
  • RARDYDA
  • QAGDVITIDKA
  • SQGMVGQ
  • QAFRRSIGVRI
  • SEIFSLE
  • LHEIDVINSRT
  • MSEDAYTVLTRIGLETSLRY
  • ETSLRYA
  • EWREEGKAEI
  • DLLDRLLI
  • QYMKEYQD
  • HTVSLHEIDVINSR
  • TLKTTEMET

Post-translational modifications for RUVBL2 Gene

  • Ubiquitination at isoforms=2164, isoforms=2177, Lys197, isoforms=2223, isoforms=2234, isoforms=2269, isoforms=2365, isoforms=2368, isoforms=2444, and isoforms=2456
  • Modification sites at PhosphoSitePlus

Domains & Families for RUVBL2 Gene

Protein Domains for RUVBL2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y230

UniProtKB/Swiss-Prot:

RUVB2_HUMAN :
  • The C-terminal domain is required for association with ATF2.
  • Belongs to the RuvB family.
Domain:
  • The C-terminal domain is required for association with ATF2.
Family:
  • Belongs to the RuvB family.
genes like me logo Genes that share domains with RUVBL2: view

Function for RUVBL2 Gene

Molecular function for RUVBL2 Gene

GENATLAS Biochemistry:
bacterial protein RuvB,E coli homolog-like 2,abundantly expressed in testis and thymus. Single stranded DNA-stimulated ATPase and ATP-dependent DNA helicase
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
Possesses single-stranded DNA-stimulated ATPase and ATP-dependent DNA helicase (5 to 3) activity; hexamerization is thought to be critical for ATP hydrolysis and adjacent subunits in the ring-like structure contribute to the ATPase activity.
UniProtKB/Swiss-Prot Function:
Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AFZ from the nucleosome.
UniProtKB/Swiss-Prot Function:
Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.
UniProtKB/Swiss-Prot Function:
Plays an essential role in oncogenic transformation by MYC and also modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex. May also inhibit the transcriptional activity of ATF2.
UniProtKB/Swiss-Prot Function:
Involved in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway where it negatively regulates expression of ER stress response genes.

Enzyme Numbers (IUBMB) for RUVBL2 Gene

Gene Ontology (GO) - Molecular Function for RUVBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IDA 23637611
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IDA 23637611
GO:0001094 TFIID-class transcription factor binding IEA --
GO:0003678 DNA helicase activity IEA,IDA 10524211
GO:0004003 ATP-dependent DNA helicase activity TAS 10428817
genes like me logo Genes that share ontologies with RUVBL2: view
genes like me logo Genes that share phenotypes with RUVBL2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for RUVBL2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RUVBL2 Gene

Localization for RUVBL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RUVBL2 Gene

Nucleus matrix. Nucleus, nucleoplasm. Cytoplasm. Membrane. Note=Mainly localized in the nucleus, associated with nuclear matrix or in the nuclear cytosol. Although it is also present in the cytoplasm and associated with the cell membranes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RUVBL2 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
cytoskeleton 4
plasma membrane 2

Gene Ontology (GO) - Cellular Components for RUVBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000812 Swr1 complex IDA 24463511
GO:0005622 intracellular IDA --
GO:0005634 nucleus IDA,IEA 10524211
GO:0005654 nucleoplasm TAS,IDA --
GO:0005719 nuclear euchromatin IDA 23637611
genes like me logo Genes that share ontologies with RUVBL2: view

Pathways & Interactions for RUVBL2 Gene

genes like me logo Genes that share pathways with RUVBL2: view

Gene Ontology (GO) - Biological Process for RUVBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006310 DNA recombination IEA --
GO:0006338 chromatin remodeling IMP 23637611
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with RUVBL2: view

No data available for SIGNOR curated interactions for RUVBL2 Gene

Drugs & Compounds for RUVBL2 Gene

(4) Drugs for RUVBL2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
7,8-Dihydroneopterin Experimental Pharma 0

(3) Additional Compounds for RUVBL2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Dihydroneopterin phosphate
  • 2-Amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl)dihydropteridine phosphate
dihydroneopterin triphosphate
  • 2-Amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl) dihydropteridine triphosphate
  • 6-(L-Erythro-1,2-Dihydroxypropyl 3-triphosphate)-7,8-dihydropterin
  • 6-[(1S,2R)-1,2-Dihydroxy-3-triphosphooxypropyl]-7,8-dihydropterin
  • 7,8-Dihydroneopterin 3'-triphosphate
  • 7,8-Dihydroneopterin triphosphate
20574-65-6
genes like me logo Genes that share compounds with RUVBL2: view

Transcripts for RUVBL2 Gene

Unigene Clusters for RUVBL2 Gene

RuvB-like 2 (E. coli):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RUVBL2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17
SP1: - -
SP2: - - -
SP3: - - - -
SP4: - -
SP5:
SP6: - - - - -
SP7: -
SP8:

Relevant External Links for RUVBL2 Gene

GeneLoc Exon Structure for
RUVBL2
ECgene alternative splicing isoforms for
RUVBL2

Expression for RUVBL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RUVBL2 Gene

mRNA differential expression in normal tissues according to GTEx for RUVBL2 Gene

This gene is overexpressed in Testis (x5.4).

Protein differential expression in normal tissues from HIPED for RUVBL2 Gene

This gene is overexpressed in Nasal epithelium (8.5) and Peripheral blood mononuclear cells (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RUVBL2 Gene



Protein tissue co-expression partners for RUVBL2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RUVBL2 Gene:

RUVBL2

SOURCE GeneReport for Unigene cluster for RUVBL2 Gene:

Hs.515846

mRNA Expression by UniProt/SwissProt for RUVBL2 Gene:

Q9Y230-RUVB2_HUMAN
Tissue specificity: Ubiquitously expressed. Highly expressed in testis and thymus.

Evidence on tissue expression from TISSUES for RUVBL2 Gene

  • Intestine(4.7)
  • Lung(4.7)
  • Nervous system(4.7)
  • Liver(4.6)
  • Blood(4.4)
  • Bone marrow(4.3)
  • Skin(3.2)
  • Eye(2.4)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with RUVBL2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for RUVBL2 Gene

Orthologs for RUVBL2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RUVBL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RUVBL2 34 35
  • 99.71 (n)
oppossum
(Monodelphis domestica)
Mammalia RUVBL2 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RUVBL2 34 35
  • 91.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RUVBL2 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RUVBL2 34 35
  • 90.57 (n)
rat
(Rattus norvegicus)
Mammalia Ruvbl2 34
  • 89.27 (n)
mouse
(Mus musculus)
Mammalia Ruvbl2 34 16 35
  • 89.06 (n)
lizard
(Anolis carolinensis)
Reptilia RUVBL2 35
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ruvbl2 34
  • 77.51 (n)
Str.1730 34
African clawed frog
(Xenopus laevis)
Amphibia ruvbl2-prov 34
zebrafish
(Danio rerio)
Actinopterygii ruvbl2 34 35
  • 75.95 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7122 34
fruit fly
(Drosophila melanogaster)
Insecta rept 36 34 35
  • 72.92 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009746 34
  • 72.49 (n)
worm
(Caenorhabditis elegans)
Secernentea T22D1.10 36
  • 58 (a)
ruvb-2 34 35
  • 57.32 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL142W 34
  • 69.15 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C15895g 34
  • 61.85 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RVB2 34 35 37
  • 59.38 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G67630 34
  • 66.59 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5682 34
rice
(Oryza sativa)
Liliopsida Os06g0186900 34
  • 70.57 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.11685 34
wheat
(Triticum aestivum)
Liliopsida Ta.3175 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 82 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU06854 34
  • 67.96 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rvb2 34
  • 61.47 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11911 34
Species where no ortholog for RUVBL2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for RUVBL2 Gene

ENSEMBL:
Gene Tree for RUVBL2 (if available)
TreeFam:
Gene Tree for RUVBL2 (if available)

Paralogs for RUVBL2 Gene

Paralogs for RUVBL2 Gene

(1) SIMAP similar genes for RUVBL2 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for RUVBL2 Gene

genes like me logo Genes that share paralogs with RUVBL2: view

Variants for RUVBL2 Gene

Sequence variations from dbSNP and Humsavar for RUVBL2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs5030773 Pathogenic 49,016,273(-) GCCTC(A/G)GGTGG downstream-variant-500B, reference, missense
rs2287754 Likely benign 48,993,237(+) CGCTC(A/G)GCTTC nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs2287755 Likely benign 48,993,294(+) GAAGG(A/C)GGCCG nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs535343883 Likely benign 48,993,365(+) CCCCC(-/C)AGCCA upstream-variant-2KB
rs202114467 Uncertain significance 48,993,138(+) CTCCG(A/G)GGATC nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for RUVBL2 Gene

Variant ID Type Subtype PubMed ID
dgv3618n100 CNV gain 25217958
esv22462 CNV gain 19812545
esv2659705 CNV deletion 23128226
esv2718697 CNV deletion 23290073
esv3491 CNV loss 18987735
nsv833857 CNV loss 17160897
nsv833859 CNV loss 17160897
nsv953598 CNV deletion 24416366
nsv9739 CNV gain+loss 18304495

Variation tolerance for RUVBL2 Gene

Residual Variation Intolerance Score: 9.81% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.67; 14.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RUVBL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RUVBL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RUVBL2 Gene

Disorders for RUVBL2 Gene

Relevant External Links for RUVBL2

Genetic Association Database (GAD)
RUVBL2
Human Genome Epidemiology (HuGE) Navigator
RUVBL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RUVBL2

No disorders were found for RUVBL2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RUVBL2 Gene

Publications for RUVBL2 Gene

  1. TIP49b, a new RuvB-like DNA helicase, is included in a complex together with another RuvB-like DNA helicase, TIP49a. (PMID: 10428817) Kanemaki M. … Tamura T.-A. (J. Biol. Chem. 1999) 2 3 4 22 64
  2. A mammalian chromatin remodeling complex with similarities to the yeast INO80 complex. (PMID: 16230350) Jin J. … Conaway J.W. (J. Biol. Chem. 2005) 3 4 22 64
  3. Human TIP49b/RUVBL2 gene: genomic structure, expression pattern, physical link to the human CGB/LHB gene cluster on chromosome 19q13.3. (PMID: 10998447) Parfait B. … Bieche I. (Ann. Genet. 2000) 2 3 4 64
  4. Isolation, molecular characterization, and tissue-specific expression of ECP-51 and ECP-54 (TIP49), two homologous, interacting erythroid cytosolic proteins. (PMID: 10524211) Salzer U. … Prohaska R. (Biochim. Biophys. Acta 1999) 3 4 22 64
  5. ANP32E is a histone chaperone that removes H2A.Z from chromatin. (PMID: 24463511) Obri A. … Hamiche A. (Nature 2014) 3 4 64

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