mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

Home

Download

 Statistics

Help

About Us
Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for RUVBL2
Gene summary
Basic gene Info.Gene symbolRUVBL2
Gene nameRuvB-like AAA ATPase 2
SynonymsECP51|INO80J|REPTIN|RVB2|TIH2|TIP48|TIP49B
CytomapUCSC genome browser: 19q13.3
Type of geneprotein-coding
RefGenesNM_006666.1,
Description48 kDa TATA box-binding protein-interacting protein48 kDa TBP-interacting protein51 kDa erythrocyte cytosolic proteinECP-51INO80 complex subunit JRuvB (E coli homolog)-like 2TAP54-betaTIP60-associated protein 54-betaerythrocyte cytosolic protein,
Modification date20141222
dbXrefs MIM : 604788
HGNC : HGNC
Ensembl : ENSG00000183207
HPRD : 16070
Vega : OTTHUMG00000183333
ProteinUniProt: Q9Y230
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RUVBL2
BioGPS: 10856
PathwayNCI Pathway Interaction Database: RUVBL2
KEGG: RUVBL2
REACTOME: RUVBL2
Pathway Commons: RUVBL2
ContextiHOP: RUVBL2
ligand binding site mutation search in PubMed: RUVBL2
UCL Cancer Institute: RUVBL2
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006200ATP catabolic process10966108
GO:0032508DNA duplex unwinding10524211
GO:0043967histone H4 acetylation14966270
GO:0043968histone H2A acetylation14966270


Top
Ligand binding site mutations for RUVBL2

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
K83K83NHNSC1
I28G30ESKCM1
G82G82WUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


Top
Protein structure related information for RUVBL2
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
G82G82W0.009744563
K83K83N-1.1094488
I28G30E-0.48484124
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for RUVBL2 from PDB

Top
Differential gene expression and gene-gene network for RUVBL2
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of RUVBL2 and the right PPI network was created from samples without mutations in the LBS of RUVBL2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Top

Top
Phenotype information for RUVBL2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Top
Pharmacological information for RUVBL2
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of RUVBL2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ADPADP3uk6AG82 K83
ADPADP3uk6CG82 K83
ADPADP3uk6DG82 K83
ADPADP3uk6EG82 K83
ADPADP3uk6HG82 K83
ADPADP3uk6IG82 K83
ADPADP3uk6JG82 K83
ADPADP3uk6LG82 K83
ADPADP3uk6BI28 G82 K83
ADPADP3uk6FI28 G82 K83
ADPADP3uk6GI28 G82 K83
ADPADP3uk6KI28 G82 K83


Top
Conservation information for LBS of RUVBL2
Multiple alignments for Q9Y230 in multiple species
LBSAA sequence# speciesSpecies
A24IERIGAHSHIR5Homo sapiens, Drosophila melanogaster, Danio rerio, Mus musculus, Bos taurus
A24VERTSVHSHIT1Caenorhabditis elegans
A24LNLIAAHSHIR1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
A24LSLIATHSHIV1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
A24LSLIAAHSHIT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A24LSLIAAHSHIS1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
A24LERIGAHSHIK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A85GTGKTAIAMGM3Homo sapiens, Mus musculus, Bos taurus
A85STGKTALAMGL2Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
A85GAGKTAIAIAI1Caenorhabditis elegans
A85STGKTALAMGM1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
A85STGKTALAMGV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A85STGKTAIAMGM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A85STGKTAIAVGM1Drosophila melanogaster
A85GTGKTAIAMGI1Danio rerio
D299GVLFIDEVHML9Homo sapiens, Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (s
D299GVLFIDEAHML1Caenorhabditis elegans
D299GVLFVDEVHML1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G45RQASQGMVGQL3Homo sapiens, Mus musculus, Bos taurus
G45KPSSQGMVGQL2Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
G45EYVSGGMVGQV1Caenorhabditis elegans
G45RVASQGLVGQE1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
G45RPTSEGMVGQL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G45KESSQGMVGQV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G45RLVSQGMVGQK1Drosophila melanogaster
G45RQVSQGMVGQL1Danio rerio
G80IAGQPGTGKTA4Homo sapiens, Danio rerio, Mus musculus, Bos taurus
G80VAGPPSTGKTA3Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
G80VTGEPGAGKTA1Caenorhabditis elegans
G80IAGPPSTGKTA1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
G80MAGPPSTGKTA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G80LAGEPSTGKTA1Drosophila melanogaster
G82GQPGTGKTAIA4Homo sapiens, Danio rerio, Mus musculus, Bos taurus
G82GPPSTGKTALA4Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 858
G82GEPGAGKTAIA1Caenorhabditis elegans
G82GPPSTGKTAIA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G82GEPSTGKTAIA1Drosophila melanogaster
H25ERIGAHSHIRG5Homo sapiens, Drosophila melanogaster, Danio rerio, Mus musculus, Bos taurus
H25ERTSVHSHITG1Caenorhabditis elegans
H25NLIAAHSHIRG1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
H25SLIATHSHIVG1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
H25SLIAAHSHITG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H25SLIAAHSHISG1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
H25ERIGAHSHIKG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H27IGAHSHIRGLG5Homo sapiens, Drosophila melanogaster, Danio rerio, Mus musculus, Bos taurus
H27TSVHSHITGLG1Caenorhabditis elegans
H27IAAHSHIRGLG1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
H27IATHSHIVGLG1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
H27IAAHSHITGLG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H27IAAHSHISGLG1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
H27IGAHSHIKGIG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I28GAHSHIRGLGL5Homo sapiens, Drosophila melanogaster, Danio rerio, Mus musculus, Bos taurus
I28SVHSHITGLGL1Caenorhabditis elegans
I28AAHSHIRGLGV1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
I28ATHSHIVGLGL1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
I28AAHSHITGLGL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I28AAHSHISGLGL1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
I28GAHSHIKGIGL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I370KDTKQILRIRC2Homo sapiens, Mus musculus
I370EDTAKILSIRC1Caenorhabditis elegans
I370DELRQILTIRA1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
I370QEIKTILSIRS1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
I370QEIKTILSIRA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I370SEIKTILTIRS1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
I370EEVKEILKIRC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I370KEVKEILKIRC1Drosophila melanogaster
I370KETRQILKIRC1Danio rerio
I370KDKKQILRIRC1Bos taurus
I403SLRYAIQLITA3Homo sapiens, Mus musculus, Bos taurus
I403SLRYSSNLISV2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
I403SLRYCIHLIAA1Caenorhabditis elegans
I403GLRYASNLITT1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
I403SLRYSSNLIAV1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
I403SLRYALLLISS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I403SLRYAIQLITT1Drosophila melanogaster
I403SLRYAIQLIST1Danio rerio
K83QPGTGKTAIAM4Homo sapiens, Danio rerio, Mus musculus, Bos taurus
K83PPSTGKTALAM4Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 858
K83EPGAGKTAIAI1Caenorhabditis elegans
K83PPSTGKTAIAM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K83EPSTGKTAIAV1Drosophila melanogaster
L399GLETSLRYAIQ3Homo sapiens, Mus musculus, Bos taurus
L399QEATSLRYCIH1Caenorhabditis elegans
L399GAEAGLRYASN1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
L399GGETSLRYSSN1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
L399GVETSLRYSSN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L399GSETSLRYSSN1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
L399GQETSLRYALL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L399ATDTSLRYAIQ1Drosophila melanogaster
L399GQETSLRYAIQ1Danio rerio
M46QASQGMVGQLA3Homo sapiens, Mus musculus, Bos taurus
M46PSSQGMVGQLQ2Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
M46YVSGGMVGQVA1Caenorhabditis elegans
M46VASQGLVGQEK1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
M46PTSEGMVGQLQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M46ESSQGMVGQVK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M46LVSQGMVGQKD1Drosophila melanogaster
M46QVSQGMVGQLA1Danio rerio
P79LIAGQPGTGKT4Homo sapiens, Danio rerio, Mus musculus, Bos taurus
P79LVAGPPSTGKT3Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
P79LVTGEPGAGKT1Caenorhabditis elegans
P79LIAGPPSTGKT1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
P79LMAGPPSTGKT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P79LLAGEPSTGKT1Drosophila melanogaster
T81AGQPGTGKTAI4Homo sapiens, Danio rerio, Mus musculus, Bos taurus
T81AGPPSTGKTAL4Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 858
T81TGEPGAGKTAI1Caenorhabditis elegans
T81AGPPSTGKTAI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T81AGEPSTGKTAI1Drosophila melanogaster
T84PGTGKTAIAMG4Homo sapiens, Danio rerio, Mus musculus, Bos taurus
T84PSTGKTALAMG4Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 858
T84PGAGKTAIAIA1Caenorhabditis elegans
T84PSTGKTAIAMG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T84PSTGKTAIAVG1Drosophila melanogaster
V47ASQGMVGQLAA3Homo sapiens, Mus musculus, Bos taurus
V47SSQGMVGQLQA2Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
V47VSGGMVGQVAA1Caenorhabditis elegans
V47ASQGLVGQEKA1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
V47TSEGMVGQLQA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V47SSQGMVGQVKA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V47VSQGMVGQKDA1Drosophila melanogaster
V47VSQGMVGQLAS1Danio rerio
Y362VSTTPYSEKDT1Homo sapiens
Y362INAIPYTKEDT1Caenorhabditis elegans
Y362INTHSYTPDEL1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
Y362ITTQNYSEQEI1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
Y362ITTKSYNEQEI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y362ITTKNYDASEI1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
Y362ISTLPYSHEEV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y362IRTVPYSEKEV1Drosophila melanogaster
Y362IATTPYTEKET1Danio rerio
Y362VSTSPYSEKDT1Mus musculus
Y362VSTSPYSEKDK1Bos taurus


Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas