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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 cl... See more...
Aliases for RUVBL2 Gene
Aliases for RUVBL2 Gene
- RuvB Like AAA ATPase 2 2 3 5
- INO80 Complex Subunit J 2 3 4
- INO80J 2 3 4
- TIP48 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
- RuvB-Like 2 3 4
- TAP54-Beta 3 4
- ECP-51 3 4
- TIP49B 3 4
- TIP49b 2 4
External Ids for RUVBL2 Gene
- HGNC: 10475
- NCBI Entrez Gene: 10856
- Ensembl: ENSG00000183207
- OMIM®: 604788
- UniProtKB/Swiss-Prot: Q9Y230
Previous GeneCards Identifiers for RUVBL2 Gene
- GC19P050155
- GC19P049865
- GC19P054173
- GC19P054188
- GC19P054007
- GC19P049497
- GC19P045873
Summaries 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. Diseases associated with RUVBL2 include Hemangioma Of Spleen and Retinitis Pigmentosa 50. Among its related pathways are Cell Cycle, Mitotic and Chromatin organization. Gene Ontology (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 Summary 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 (PubMed:10428817, PubMed:17157868). 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 (PubMed:14966270). This modification may both alter nucleosome -DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription (PubMed:14966270). 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 (PubMed:14966270). The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400 (PubMed:14966270). NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage (PubMed:14966270). Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AZ1 from the nucleosome (PubMed:24463511). Proposed core component of the chromatin remodeling INO80 complex which exhibits DNA- and nucleosome-activated ATPase activity and catalyzes ATP-dependent nucleosome sliding (PubMed:16230350, PubMed:21303910). Plays an essential role in oncogenic transformation by MYC and also modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex (PubMed:10882073, PubMed:16014379). May also inhibit the transcriptional activity of ATF2 (PubMed:11713276). Involved in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway where it negatively regulates expression of ER stress response genes (PubMed:25652260). May play a role in regulating the composition of the U5 snRNP complex (PubMed:28561026).
Additional gene information for RUVBL2 Gene
- HGNC (10475)
- NCBI Entrez Gene (10856)
- Ensembl (ENSG00000183207)
- OMIM® (604788)
- UniProtKB/Swiss-Prot (Q9Y230)
- Open Targets Platform(ENSG00000183207)
- Alliance of Genome Resources
- Search for RUVBL2 at DataMed
- Search for RUVBL2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RUVBL2 Gene
Genomics for RUVBL2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RUVBL2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RUVBL2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RUVBL2
- Top Transcription factor binding sites by QIAGEN in the RUVBL2 gene promoter:
-
- ARP-1
- ATF-2
- CRE-BP1
- E47
- GCNF
- GCNF-1
- GCNF-2
- RFX1
- STAT1
- TBP
Genomic Locations for RUVBL2 Gene
Latest Assembly
- chr19:48,993,448-49,015,995
- (GRCh38/hg38)
- Size:
- 22,548 bases
- Orientation:
- Plus strand
Previous Assembly
- chr19:49,496,705-49,519,252
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 22,548 bases
- Orientation:
- Plus strand
Genomic View for RUVBL2 Gene
Genes around RUVBL2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.33 by HGNC
- 19q13.33 by Entrez Gene
- 19q13.33 by Ensembl
RUVBL2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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 ZMYND10 (PubMed:29601588). 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). Forms a complex with APPL1 and APPL2 (PubMed:19433865). Interacts with ZNHIT2 (via HIT-type zinc finger) in the presence of ATP or ADP; shows a stronger interaction in the presence of ADP (PubMed:28561026). The RUVBL1/RUVBL2 complex interacts with ZNHIT1 (via HIT-type zinc finger), ZNHIT3 (via HIT-type zinc finger), ZNHIT6 (via HIT-type zinc finger) and DDX59/ZNHIT5 (via HIT-type zinc finger) in the presence of ADP (PubMed:28561026).
- SequenceCaution:
-
- Sequence=AAD34041.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH08355.1; Type=Frameshift; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for RUVBL2 Gene
Protein Expression 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
Other Protein References for RUVBL2 Gene
Antibodies for research
- LifeSpan BioSciences TIP48 / RUVBL2 Antibody
- G Biosciences Immunotag™ RUVBL2 Antibody
- GeneTex Anti-RUVBL2 antibody and Anti-RUVBL2 antibody [N1C1]
- Novus Biologicals Antibodies for RUVBL2
-
Abcam antibodies for RUVBL2
- Invitrogen Antibodies for RUVBL2 (AFLGC-Ruvbl2)
-
Santa Cruz Biotechnology (SCBT) Antibodies for RUVBL2
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for RUVBL2
- Origene Custom Protein Services for RUVBL2
-
Abcam proteins for RUVBL2
Assay products for research
Domains & Families for RUVBL2 Gene
Gene Families for RUVBL2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for RUVBL2 Gene
- InterPro:
- Blocks:
-
- TIP49, C-terminal
Suggested Antigen Peptide Sequences for RUVBL2 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ14856 fis, clone PLACE1001054, highly similar to RuvB-like 2 (EC 3.6.1.-) (B3KNL2_HUMAN)
- cDNA FLJ32936 fis, clone TESTI2007533, highly similar to RuvB-like 2 (EC 3.6.1.-) (B3KQ59_HUMAN)
- TIP60-associated protein 54-beta (RUVB2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9Y230UniProtKB/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.
Function for RUVBL2 Gene
Molecular function for RUVBL2 Gene
- 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 (PubMed:10428817, PubMed:17157868). 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 (PubMed:14966270). This modification may both alter nucleosome -DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription (PubMed:14966270). 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 (PubMed:14966270). The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400 (PubMed:14966270). NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage (PubMed:14966270). Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AZ1 from the nucleosome (PubMed:24463511). Proposed core component of the chromatin remodeling INO80 complex which exhibits DNA- and nucleosome-activated ATPase activity and catalyzes ATP-dependent nucleosome sliding (PubMed:16230350, PubMed:21303910). Plays an essential role in oncogenic transformation by MYC and also modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex (PubMed:10882073, PubMed:16014379). May also inhibit the transcriptional activity of ATF2 (PubMed:11713276). Involved in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway where it negatively regulates expression of ER stress response genes (PubMed:25652260). May play a role in regulating the composition of the U5 snRNP complex (PubMed:28561026).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12; Evidence={ECO:0000269|PubMed:10428817, ECO:0000269|PubMed:17157868};.
- 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
Enzyme Numbers (IUBMB) for RUVBL2 Gene
Phenotypes From GWAS Catalog for RUVBL2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 23637611 |
| GO:0000979 | RNA polymerase II core promoter sequence-specific DNA binding | IDA | 23637611 |
| GO:0001094 | TFIID-class transcription factor complex binding | IEA | -- |
| GO:0003678 | DNA helicase activity | IEA,IDA | 10524211 |
Phenotypes for RUVBL2 Gene
- MGI mutant phenotypes for RUVBL2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for RUVBL2:
-
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 25%
- shRNA abundance <= 50%
- Reduced mammosphere formation
- no effect
- Decreased viability
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased vaccinia virus (VACV) infection
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Increased IL-8 secretion
- Effect on mitosis
- Decreased shRNA abundance (Z-score < -2)
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Increased Nanog expression
- Increased shRNA abundance (Z-score > 2)
- Decreased homologous recombination repair frequency
- Downregulation of NF-kappaB pathway after LMP1 stimulation
- Downregulation of NF-kappaB pathway after IL-1beta stimulation
- Downregulation of NF-kappaB pathway after TNFalpha stimulation
- Decreased cell number and increased metaphase cell number
Animal Models for research
-
Taconic Biosciences Mouse Models for RUVBL2
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for RUVBL2 - Starting at $85 >
- * RUVBL2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for RUVBL2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RUVBL2
-
Santa Cruz Biotechnology (SCBT) CRISPR for RUVBL2
miRNA for RUVBL2 Gene
- miRTarBase miRNAs that target RUVBL2
-
- hsa-miR-1229-3p (MIRT036346)
- hsa-miR-324-3p (MIRT042877)
- hsa-miR-92a-3p (MIRT049723)
- hsa-miR-5047 (MIRT642207)
- hsa-miR-1301-3p (MIRT642208)
- hsa-miR-1185-2-3p (MIRT642209)
- hsa-miR-1185-1-3p (MIRT642210)
- hsa-let-7f-2-3p (MIRT642211)
- hsa-miR-4789-5p (MIRT642212)
- hsa-miR-98-3p (MIRT642213)
- hsa-let-7f-1-3p (MIRT642214)
- hsa-let-7b-3p (MIRT642215)
- hsa-let-7a-3p (MIRT642216)
- hsa-miR-3944-5p (MIRT642217)
- hsa-miR-4660 (MIRT642218)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RUVBL2
- Browse OriGene Inhibitory RNA Products For RUVBL2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RUVBL2
Clone products for research
- Applied Biological Materials (abm): Clones for RUVBL2 - Starting at $45 >
- * RUVBL2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for RUVBL2
- Addgene plasmids for RUVBL2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RUVBL2
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 4 |
| cytoskeleton | 4 |
| plasma membrane | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Centrosome (3)
- Cytosol (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000791 | euchromatin | IDA | 23637611 |
| GO:0000812 | Swr1 complex | IDA | 24463511 |
| GO:0005634 | nucleus | IEA,IDA | 10524211 |
| GO:0005654 | nucleoplasm | IDA,TAS | -- |
| GO:0005737 | cytoplasm | IEA,IDA | 19433865 |
Pathways & Interactions for RUVBL2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chromatin organization | ||
| 2 | Chromosome Maintenance | ||
| 3 | Telomere C-strand (Lagging Strand) Synthesis | ||
| 4 | Chromatin Regulation / Acetylation | ||
| 5 | Cell Cycle, Mitotic |
.83
|
|
Pathways by source for RUVBL2 Gene
4 BioSystems pathways for RUVBL2 Gene
8 Reactome pathways for RUVBL2 Gene
1 Cell Signaling Technology pathway for RUVBL2 Gene
Interacting Proteins for RUVBL2 Gene
Selected Interacting proteins:
Q9Y230-RUVB2_HUMAN
ENSP00000473172
for RUVBL2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for RUVBL2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000492 | box C/D snoRNP assembly | IBA | 21873635 |
| GO:0006281 | DNA repair | IEA | -- |
| GO:0006310 | DNA recombination | IEA | -- |
| GO:0006325 | chromatin organization | IEA | -- |
| GO:0006338 | chromatin remodeling | IMP | 23637611 |
No data available for SIGNOR curated interactions for RUVBL2 Gene
Drugs & Compounds for RUVBL2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Water | Approved | Pharma | 0 | |||
| Quercetin | Experimental, Investigational | Pharma | Target | Antitumor agent, Non-selective PI 3-kinase inhibitor | 68 | |
| 7,8-Dihydroneopterin | Experimental | Pharma | 0 | |||
| Phosphate | Experimental | Pharma | 0 | |||
| ATP | Investigational | Nutra | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
58-64-0 |
|
|||
| Dihydroneopterin phosphate |
|
|
||||
| dihydroneopterin triphosphate |
|
20574-65-6 |
|
Transcripts for RUVBL2 Gene
mRNA/cDNA for RUVBL2 Gene
- 3 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000221413 1478 nts (view in UCSC)
- ENST00000593570 813 nts (view in UCSC)
- ENST00000594017 959 nts (view in UCSC)
- ENST00000594338 1853 nts (view in UCSC)
- ENST00000595002 546 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for RUVBL2 - Starting at $85 >
- * RUVBL2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for RUVBL2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RUVBL2
-
Santa Cruz Biotechnology (SCBT) CRISPR for RUVBL2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RUVBL2
- Browse OriGene Inhibitory RNA Products For RUVBL2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RUVBL2
Clone products for research
- Applied Biological Materials (abm): Clones for RUVBL2 - Starting at $45 >
- * RUVBL2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for RUVBL2
- Addgene plasmids for RUVBL2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RUVBL2
| 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
Expression for RUVBL2 Gene
mRNA differential expression in normal tissues according to GTEx for RUVBL2 Gene
This gene is overexpressed in Testis (x5.4).
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, MaxQB, and MOPED for RUVBL2 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RUVBL2
SOURCE GeneReport for Unigene cluster for RUVBL2 Gene:
Hs.515846mRNA 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
- Lung(4.8)
- Nervous system(4.7)
- Intestine(4.7)
- Liver(4.6)
- Blood(4.6)
- Bone marrow(4.4)
- Skin(3.8)
- Kidney(2.6)
- Pancreas(2.5)
- Eye(2.4)
- Muscle(2.3)
- Heart(2.1)
Primer products for research
-
OriGene qPCR primer pairs for RUVBL2
-
OriGene qPCR primer pairs and template standards for RUVBL2
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | RUVBL2 29 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | RUVBL2 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | RUVBL2 29 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | RUVBL2 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | RUVBL2 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ruvbl2 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Ruvbl2 29 16 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | RUVBL2 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ruvbl2 29 |
|
||
| Str.1730 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | ruvbl2-prov 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ruvbl2 29 30 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7122 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | rept 29 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009746 29 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | T22D1.10 31 |
|
|
|
| ruvb-2 29 30 |
|
OneToOne | |||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFL142W 29 |
|
||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C15895g 29 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RVB2 29 30 32 |
|
OneToOne | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G67630 29 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.5682 29 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os06g0186900 29 |
|
||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.11685 29 |
|
||
| Wheat (Triticum aestivum) |
Liliopsida | Ta.3175 29 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToOne | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU06854 29 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | rvb2 29 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.11911 29 |
|
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for RUVBL2: view image
- Alliance of Genome Resources:
- Additional Orthologs for RUVBL2
Paralogs for RUVBL2 Gene
(1) SIMAP similar genes for RUVBL2 Gene using alignment to 8 proteins:
- RUVB2_HUMAN
- B3KNL2_HUMAN
- B3KQ59_HUMAN
- M0QXI6_HUMAN
- M0QXZ7_HUMAN
- M0QYD8_HUMAN
- M0R0Y3_HUMAN
- M0R0Z0_HUMAN
Pseudogenes.org Pseudogenes for RUVBL2 Gene
Variants for RUVBL2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RUVBL2 Gene
| SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs145890647 | Benign: not provided | 49,010,042(+) |
C/T NM_006666.3(RUVBL2):c.639C>T (p.Arg213=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
| rs185487314 | Benign: not provided | 49,009,880(+) |
C/T NM_006666.3(RUVBL2):c.567C>T (p.Ala189=) |
SYNONYMOUS | |
| rs190848887 | Benign: not provided | 49,011,063(+) |
C/T NM_006666.3(RUVBL2):c.852C>T (p.Arg284=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
| rs76784576 | Benign: not provided | 49,015,102(+) |
C/T NM_006666.3(RUVBL2):c.1203C>T (p.Tyr401=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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)
Additional Variant Information for RUVBL2 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RUVBL2 Gene
Disorders for RUVBL2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hemangioma of spleen |
|
|
| retinitis pigmentosa 50 |
|
|
| dyskeratosis congenita |
|
|
Search RUVBL2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for RUVBL2
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for RUVBL2 Gene
Publications for RUVBL2 Gene
- 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 TA (The Journal of biological chemistry 1999) 2 3 4 22
- A mammalian chromatin remodeling complex with similarities to the yeast INO80 complex. (PMID: 16230350) Jin J … Conaway JW (The Journal of biological chemistry 2005) 3 4 22
- 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 … Bièche I (Annales de genetique 2000) 2 3 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 (Biochimica et biophysica acta 1999) 3 4 22
- ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. (PMID: 29601588) Cho KJ … Gee HY (PLoS genetics 2018) 3 4
ExternalLinks
Products for RUVBL2 Gene
- Custom Antibody ServicesOriGene Antibodies for RUVBL2
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for RUVBL2
- Origene Custom Protein Services for RUVBL2
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- OriGene qPCR primer pairs for RUVBL2
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- High-throughput Antibody Production Service
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- Novus Biologicals Antibodies for RUVBL2
- Novus Biologicals proteins and lysates for RUVBL2
- Browse Antibodies
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- Taconic Biosciences Mouse Models for RUVBL2
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for RUVBL2 (AFLGC-Ruvbl2)
- VectorBuilder Custom and pre-made DNA vectors for RUVBL2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for RUVBL2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for RUVBL2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for RUVBL2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for RUVBL2
- Addgene plasmids for RUVBL2
- antibodies-online: Show 29 available RUVBL2 Antibodies ranked by validation data
- Compare Top RUVBL2 Antibodies
- antibodies-online: Search results for available RUVBL2 related products ranked by validation data
- antibodies-online: Show 10 available RUVBL2 Proteins ranked by validation data
- Compare Top RUVBL2 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for RUVBL2
- Search Santa Cruz Biotechnology (SCBT) for RUVBL2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for RUVBL2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RUVBL2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RUVBL2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for RUVBL2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RUVBL2
Sources for RUVBL2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
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- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
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- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
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- (35) Pseudogene
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- (37) dbSNP
- (38) GenAtlas
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- (41) BGMUT
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- (43) Atlas
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- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
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