RUVBL2 (RuvB like AAA ATPase 2) - Rat Genome Database

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Gene: RUVBL2 (RuvB like AAA ATPase 2) Homo sapiens
Analyze
Symbol: RUVBL2
Name: RuvB like AAA ATPase 2
RGD ID: 1315165
HGNC Page HGNC
Description: Enables several functions, including DNA binding activity; TBP-class protein binding activity; and beta-catenin binding activity. Involved in several processes, including cellular response to estradiol stimulus; chromatin organization; and positive regulation of nitrogen compound metabolic process. Located in several cellular components, including centrosome; euchromatin; and nucleoplasm. Part of R2TP complex and nuclear lumen.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 48 kDa TATA box-binding protein-interacting protein; 48 kDa TBP-interacting protein; 51 kDa erythrocyte cytosolic protein; CGI-46; ECP-51; ECP51; erythrocyte cytosolic protein, 51-KD; INO80 complex subunit J; INO80J; repressing pontin 52; REPTIN; reptin 52; Reptin52; RuvB (E coli homolog)-like 2; ruvB-like 2; RuvB-like AAA ATPase 2; RVB2; TAP54-beta; TBP-interacting protein, 48-KD; TIH2; TIP48; TIP49B; TIP60-associated protein 54-beta
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: RUVBL2P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1948,993,562 - 49,015,970 (+)EnsemblGRCh38hg38GRCh38
GRCh381948,993,448 - 49,015,995 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371949,496,705 - 49,519,252 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361954,188,968 - 54,210,994 (+)NCBINCBI36hg18NCBI36
Build 341954,188,967 - 54,210,994NCBI
Celera1946,364,487 - 46,386,389 (+)NCBI
Cytogenetic Map19q13.33NCBI
HuRef1945,873,862 - 45,895,902 (+)NCBIHuRef
CHM1_11949,499,385 - 49,521,406 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:10428817   PMID:10524211   PMID:10810093   PMID:10882073   PMID:10966108   PMID:10998447   PMID:11076863   PMID:11080158   PMID:11230166   PMID:11256614   PMID:11509179   PMID:11713276  
PMID:11839798   PMID:12171929   PMID:12477932   PMID:12660246   PMID:12665801   PMID:12963728   PMID:14615539   PMID:14702039   PMID:14966270   PMID:15161933   PMID:15196461   PMID:15231747  
PMID:15489334   PMID:15489336   PMID:15635413   PMID:15647280   PMID:15829968   PMID:15960975   PMID:16014379   PMID:16157330   PMID:16159877   PMID:16169070   PMID:16189514   PMID:16196087  
PMID:16230350   PMID:16303743   PMID:16381901   PMID:16387653   PMID:16601686   PMID:16699503   PMID:17148452   PMID:17157868   PMID:17220478   PMID:17314511   PMID:17342744   PMID:17353931  
PMID:17573780   PMID:17636026   PMID:17643375   PMID:17657734   PMID:17704809   PMID:17721549   PMID:17955473   PMID:18022941   PMID:18026119   PMID:18087039   PMID:18218781   PMID:18358808  
PMID:18397884   PMID:18457437   PMID:18765919   PMID:18781797   PMID:18922472   PMID:19167051   PMID:19180575   PMID:19299493   PMID:19369355   PMID:19380743   PMID:19403135   PMID:19433865  
PMID:19444951   PMID:19450687   PMID:19454010   PMID:19524533   PMID:19620283   PMID:19738201   PMID:19851296   PMID:19877184   PMID:20020773   PMID:20080577   PMID:20085707   PMID:20198315  
PMID:20211142   PMID:20332121   PMID:20346530   PMID:20360068   PMID:20371770   PMID:20412048   PMID:20458337   PMID:20462248   PMID:20467437   PMID:20473970   PMID:20509972   PMID:20534441  
PMID:20553504   PMID:20603076   PMID:20800578   PMID:20801936   PMID:20808282   PMID:20864032   PMID:20888340   PMID:21081503   PMID:21081666   PMID:21139048   PMID:21145461   PMID:21182205  
PMID:21303910   PMID:21320693   PMID:21532573   PMID:21549307   PMID:21763315   PMID:21832049   PMID:21853274   PMID:21873635   PMID:21890473   PMID:21906983   PMID:21933716   PMID:21963094  
PMID:21987572   PMID:21988832   PMID:22053931   PMID:22210892   PMID:22268729   PMID:22285491   PMID:22337587   PMID:22341977   PMID:22467210   PMID:22505724   PMID:22544753   PMID:22658674  
PMID:22748767   PMID:22751105   PMID:22863883   PMID:22902626   PMID:22923768   PMID:22939629   PMID:22990118   PMID:23000965   PMID:23002137   PMID:23349634   PMID:23376485   PMID:23398456  
PMID:23403462   PMID:23438482   PMID:23443559   PMID:23637611   PMID:23667685   PMID:23824909   PMID:23878400   PMID:23891720   PMID:24023044   PMID:24049095   PMID:24169447   PMID:24244333  
PMID:24255178   PMID:24332808   PMID:24366813   PMID:24457600   PMID:24463511   PMID:24583282   PMID:24625528   PMID:24711643   PMID:24816145   PMID:24990942   PMID:25036637   PMID:25147182  
PMID:25184681   PMID:25324306   PMID:25336637   PMID:25404746   PMID:25416956   PMID:25428364   PMID:25437307   PMID:25467444   PMID:25636407   PMID:25756610   PMID:25798074   PMID:25852190  
PMID:25875766   PMID:25921289   PMID:25957047   PMID:25959826   PMID:26095369   PMID:26186194   PMID:26211835   PMID:26264872   PMID:26303906   PMID:26344197   PMID:26381412   PMID:26446488  
PMID:26496610   PMID:26549023   PMID:26618866   PMID:26673895   PMID:26711270   PMID:26725010   PMID:26831064   PMID:26863765   PMID:26990986   PMID:27025967   PMID:27153538   PMID:27248496  
PMID:27320910   PMID:27375898   PMID:27377895   PMID:27462432   PMID:27503909   PMID:27591049   PMID:27609421   PMID:27684187   PMID:27705803   PMID:27780869   PMID:27845271   PMID:27976729  
PMID:27999200   PMID:28065597   PMID:28089446   PMID:28137758   PMID:28192407   PMID:28242625   PMID:28330616   PMID:28514442   PMID:28515276   PMID:28561026   PMID:28581483   PMID:28718761  
PMID:28833338   PMID:28902428   PMID:29028833   PMID:29128334   PMID:29150431   PMID:29229926   PMID:29278704   PMID:29298432   PMID:29323271   PMID:29331416   PMID:29357390   PMID:29378950  
PMID:29395067   PMID:29435596   PMID:29467282   PMID:29478914   PMID:29490077   PMID:29507755   PMID:29601588   PMID:29662061   PMID:29669786   PMID:29773831   PMID:29795372   PMID:29844126  
PMID:29845934   PMID:29853494   PMID:29863498   PMID:29873033   PMID:29884807   PMID:29892012   PMID:29955894   PMID:29959317   PMID:29969578   PMID:29991511   PMID:30196744   PMID:30213962  
PMID:30344098   PMID:30404004   PMID:30442662   PMID:30463901   PMID:30575818   PMID:30669930   PMID:30699358   PMID:30804502   PMID:30890647   PMID:30948266   PMID:31010829   PMID:31018511  
PMID:31046837   PMID:31048545   PMID:31059266   PMID:31076518   PMID:31091453   PMID:31138842   PMID:31180492   PMID:31267705   PMID:31586073   PMID:31665637   PMID:31669268   PMID:31738558  
PMID:31753913   PMID:31980649   PMID:31980815   PMID:32129710   PMID:32140074   PMID:32235678   PMID:32296183   PMID:32322062   PMID:32382008   PMID:32416067   PMID:32529326   PMID:32552912  
PMID:32780723   PMID:32807901   PMID:32850835   PMID:32929329   PMID:32994395   PMID:33024031   PMID:33144569   PMID:33205750   PMID:33367824   PMID:34079125  


Genomics

Comparative Map Data
RUVBL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1948,993,562 - 49,015,970 (+)EnsemblGRCh38hg38GRCh38
GRCh381948,993,448 - 49,015,995 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371949,496,705 - 49,519,252 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361954,188,968 - 54,210,994 (+)NCBINCBI36hg18NCBI36
Build 341954,188,967 - 54,210,994NCBI
Celera1946,364,487 - 46,386,389 (+)NCBI
Cytogenetic Map19q13.33NCBI
HuRef1945,873,862 - 45,895,902 (+)NCBIHuRef
CHM1_11949,499,385 - 49,521,406 (+)NCBICHM1_1
Ruvbl2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39745,071,320 - 45,084,810 (-)NCBIGRCm39mm39
GRCm39 Ensembl745,071,184 - 45,087,520 (-)Ensembl
GRCm38745,421,896 - 45,436,171 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl745,421,760 - 45,438,096 (-)EnsemblGRCm38mm10GRCm38
MGSCv37752,677,268 - 52,689,834 (-)NCBIGRCm37mm9NCBIm37
MGSCv36745,290,000 - 45,302,337 (-)NCBImm8
Celera740,877,932 - 40,890,498 (-)NCBICelera
Cytogenetic Map7B3NCBI
Ruvbl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2195,902,014 - 95,915,364 (-)NCBImRatBN7.2
Rnor_6.0 Ensembl1101,413,766 - 101,426,852 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01101,413,766 - 101,426,970 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01102,493,176 - 102,506,380 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4195,894,029 - 95,906,885 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1195,972,140 - 95,985,010 (-)NCBI
Celera190,157,605 - 90,170,691 (-)NCBICelera
Cytogenetic Map1q22NCBI
Ruvbl2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555591,654,059 - 1,674,272 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555591,657,241 - 1,674,272 (-)NCBIChiLan1.0ChiLan1.0
RUVBL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11954,739,474 - 54,761,407 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1954,739,474 - 54,761,407 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01945,995,394 - 46,017,835 (+)NCBIMhudiblu_PPA_v0panPan3
RUVBL2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11107,384,328 - 107,400,849 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1107,384,342 - 107,400,505 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1106,910,707 - 106,923,430 (-)NCBI
ROS_Cfam_1.01107,908,904 - 107,925,482 (-)NCBI
UMICH_Zoey_3.11107,576,740 - 107,593,066 (-)NCBI
UNSW_CanFamBas_1.01107,222,909 - 107,239,405 (-)NCBI
UU_Cfam_GSD_1.01108,058,521 - 108,075,019 (-)NCBI
Ruvbl2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934921,377,118 - 21,392,373 (+)NCBI
SpeTri2.0NW_0049366642,995,212 - 3,010,563 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RUVBL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl654,250,515 - 54,266,893 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1654,250,494 - 54,263,492 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2650,065,154 - 50,078,153 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RUVBL2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1642,227,982 - 42,247,204 (+)NCBI
ChlSab1.1 Ensembl642,227,821 - 42,249,707 (+)Ensembl
Vero_WHO_p1.0NW_02366607322,110,661 - 22,134,370 (+)NCBI
Ruvbl2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248325,014,484 - 5,028,868 (-)NCBI

Position Markers
D19S879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371949,515,920 - 49,516,172UniSTSGRCh37
Build 361954,207,732 - 54,207,984RGDNCBI36
Celera1946,383,125 - 46,383,379RGD
Cytogenetic Map19q13.3UniSTS
HuRef1945,892,599 - 45,892,851UniSTS
Marshfield Genetic Map1975.41RGD
Marshfield Genetic Map1975.41UniSTS
Genethon Genetic Map1978.9UniSTS
TNG Radiation Hybrid Map1918091.0UniSTS
deCODE Assembly Map1980.32UniSTS
A002E14  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371949,518,897 - 49,519,151UniSTSGRCh37
Build 361954,210,709 - 54,210,963RGDNCBI36
Celera1946,386,104 - 46,386,358RGD
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19q13.32UniSTS
HuRef1945,895,617 - 45,895,871UniSTS
GeneMap99-GB4 RH Map19267.96UniSTS
Whitehead-RH Map19342.1UniSTS
RH47492  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371949,518,918 - 49,519,182UniSTSGRCh37
Build 361954,210,730 - 54,210,994RGDNCBI36
Celera1946,386,125 - 46,386,389RGD
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19q13.32UniSTS
HuRef1945,895,638 - 45,895,902UniSTS
GeneMap99-GB4 RH Map19266.84UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
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Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3295
Count of miRNA genes:931
Interacting mature miRNAs:1146
Transcripts:ENST00000221413, ENST00000413176, ENST00000593570, ENST00000594017, ENST00000594338, ENST00000595002, ENST00000595090, ENST00000595811, ENST00000596247, ENST00000596837, ENST00000598768, ENST00000601968
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2430 2542 1690 589 1599 431 4355 2104 3517 410 1447 1608 171 1203 2788 4
Low 4 448 35 34 352 33 91 205 8 5 2 4 1 1 1 1
Below cutoff 2 1 1 1 10 1 6 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB024301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC245081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF124607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF151804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF155138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF401216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX882885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ782490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR533507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000221413   ⟹   ENSP00000221413
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,993,899 - 49,015,926 (+)Ensembl
RefSeq Acc Id: ENST00000593570   ⟹   ENSP00000469488
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,993,910 - 49,009,882 (+)Ensembl
RefSeq Acc Id: ENST00000594017
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,993,890 - 49,010,340 (+)Ensembl
RefSeq Acc Id: ENST00000594338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,999,319 - 49,015,894 (+)Ensembl
RefSeq Acc Id: ENST00000595002
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1949,015,251 - 49,015,926 (+)Ensembl
RefSeq Acc Id: ENST00000595090   ⟹   ENSP00000473172
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,993,887 - 49,015,970 (+)Ensembl
RefSeq Acc Id: ENST00000595811   ⟹   ENSP00000469760
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,993,889 - 49,004,382 (+)Ensembl
RefSeq Acc Id: ENST00000596247   ⟹   ENSP00000471538
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,993,898 - 49,015,929 (+)Ensembl
RefSeq Acc Id: ENST00000596837   ⟹   ENSP00000469189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,993,616 - 49,007,368 (+)Ensembl
RefSeq Acc Id: ENST00000598768
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,993,898 - 48,999,364 (+)Ensembl
RefSeq Acc Id: ENST00000601968   ⟹   ENSP00000471524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,993,562 - 49,015,892 (+)Ensembl
RefSeq Acc Id: ENST00000627972   ⟹   ENSP00000486242
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1949,004,289 - 49,015,650 (+)Ensembl
RefSeq Acc Id: ENST00000639391   ⟹   ENSP00000492564
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,999,307 - 49,001,401 (+)Ensembl
RefSeq Acc Id: ENST00000640699   ⟹   ENSP00000492610
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,999,307 - 49,004,236 (+)Ensembl
RefSeq Acc Id: NM_001321190   ⟹   NP_001308119
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,993,887 - 49,015,970 (+)NCBI
CHM1_11949,498,934 - 49,521,476 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321191   ⟹   NP_001308120
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,993,448 - 49,015,995 (+)NCBI
CHM1_11949,498,934 - 49,521,476 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006666   ⟹   NP_006657
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,993,887 - 49,015,970 (+)NCBI
GRCh371949,496,738 - 49,519,183 (+)NCBI
Build 361954,188,968 - 54,210,994 (+)NCBI Archive
HuRef1945,873,862 - 45,895,902 (+)ENTREZGENE
CHM1_11949,498,934 - 49,521,476 (+)NCBI
Sequence:
RefSeq Acc Id: NR_135578
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,993,887 - 49,015,970 (+)NCBI
CHM1_11949,498,934 - 49,521,476 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011526330   ⟹   XP_011524632
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,993,949 - 49,015,926 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001308119 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308120 (Get FASTA)   NCBI Sequence Viewer  
  NP_006657 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524632 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD34041 (Get FASTA)   NCBI Sequence Viewer  
  AAD38073 (Get FASTA)   NCBI Sequence Viewer  
  AAF87087 (Get FASTA)   NCBI Sequence Viewer  
  AAH00428 (Get FASTA)   NCBI Sequence Viewer  
  AAH04531 (Get FASTA)   NCBI Sequence Viewer  
  AAH08355 (Get FASTA)   NCBI Sequence Viewer  
  AAL02172 (Get FASTA)   NCBI Sequence Viewer  
  BAA76708 (Get FASTA)   NCBI Sequence Viewer  
  BAC11048 (Get FASTA)   NCBI Sequence Viewer  
  BAG51374 (Get FASTA)   NCBI Sequence Viewer  
  BAG51921 (Get FASTA)   NCBI Sequence Viewer  
  BAG62892 (Get FASTA)   NCBI Sequence Viewer  
  CAB46270 (Get FASTA)   NCBI Sequence Viewer  
  CAB66677 (Get FASTA)   NCBI Sequence Viewer  
  CAE91764 (Get FASTA)   NCBI Sequence Viewer  
  CAF85776 (Get FASTA)   NCBI Sequence Viewer  
  CAG38538 (Get FASTA)   NCBI Sequence Viewer  
  EAW52426 (Get FASTA)   NCBI Sequence Viewer  
  EAW52427 (Get FASTA)   NCBI Sequence Viewer  
  EAW52428 (Get FASTA)   NCBI Sequence Viewer  
  EAW52429 (Get FASTA)   NCBI Sequence Viewer  
  EAW52430 (Get FASTA)   NCBI Sequence Viewer  
  EAW52431 (Get FASTA)   NCBI Sequence Viewer  
  Q9Y230 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_006657   ⟸   NM_006666
- Peptide Label: isoform 1
- UniProtKB: Q9Y230 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011524632   ⟸   XM_011526330
- Peptide Label: isoform X1
- UniProtKB: Q9Y230 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308119   ⟸   NM_001321190
- Peptide Label: isoform 2
- UniProtKB: B3KNL2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308120   ⟸   NM_001321191
- Peptide Label: isoform 3
- UniProtKB: Q9Y230 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000473172   ⟸   ENST00000595090
RefSeq Acc Id: ENSP00000469760   ⟸   ENST00000595811
RefSeq Acc Id: ENSP00000471538   ⟸   ENST00000596247
RefSeq Acc Id: ENSP00000469189   ⟸   ENST00000596837
RefSeq Acc Id: ENSP00000492564   ⟸   ENST00000639391
RefSeq Acc Id: ENSP00000486242   ⟸   ENST00000627972
RefSeq Acc Id: ENSP00000471524   ⟸   ENST00000601968
RefSeq Acc Id: ENSP00000492610   ⟸   ENST00000640699
RefSeq Acc Id: ENSP00000221413   ⟸   ENST00000221413
RefSeq Acc Id: ENSP00000469488   ⟸   ENST00000593570
Protein Domains
AAA   TIP49

Promoters
RGD ID:13205047
Promoter ID:EPDNEW_H26104
Type:initiation region
Name:RUVBL2_2
Description:RuvB like AAA ATPase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26105  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,993,533 - 48,993,593EPDNEW
RGD ID:13205049
Promoter ID:EPDNEW_H26105
Type:initiation region
Name:RUVBL2_1
Description:RuvB like AAA ATPase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26104  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,993,898 - 48,993,958EPDNEW
RGD ID:6796114
Promoter ID:HG_KWN:30496
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006666,   NR_027763,   OTTHUMT00000319791,   OTTHUMT00000319795,   UC002PLQ.1,   UC002PLS.1,   UC010EMM.1,   UC010EMN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361954,187,541 - 54,189,067 (+)MPROMDB
RGD ID:6850428
Promoter ID:EP73005
Type:multiple initiation site
Name:HS_RUVBL2
Description:RuvB-like 2 (E. coli).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361954,188,967 - 54,189,027EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3 copy number gain See cases [RCV000052913] Chr19:46658791..49050450 [GRCh38]
Chr19:47162048..49553707 [GRCh37]
Chr19:51853888..54245519 [NCBI36]
Chr19:19q13.32-13.33
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_006666.3(RUVBL2):c.852C>T (p.Arg284=) single nucleotide variant not provided [RCV000880917] Chr19:49011063 [GRCh38]
Chr19:49514320 [GRCh37]
Chr19:19q13.33
benign
NM_006666.3(RUVBL2):c.639C>T (p.Arg213=) single nucleotide variant not provided [RCV000962754] Chr19:49010042 [GRCh38]
Chr19:49513299 [GRCh37]
Chr19:19q13.33
benign
GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3 copy number gain not provided [RCV000848800] Chr19:48119589..49595956 [GRCh37]
Chr19:19q13.33
uncertain significance
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42
pathogenic
NM_006666.3(RUVBL2):c.1203C>T (p.Tyr401=) single nucleotide variant not provided [RCV000886243] Chr19:49015102 [GRCh38]
Chr19:49518359 [GRCh37]
Chr19:19q13.33
benign
NM_006666.3(RUVBL2):c.567C>T (p.Ala189=) single nucleotide variant not provided [RCV000911932] Chr19:49009880 [GRCh38]
Chr19:49513137 [GRCh37]
Chr19:19q13.33
benign
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42
not provided
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10475 AgrOrtholog
COSMIC RUVBL2 COSMIC
Ensembl Genes ENSG00000183207 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000221413 UniProtKB/TrEMBL
  ENSP00000469189 UniProtKB/TrEMBL
  ENSP00000469488 UniProtKB/TrEMBL
  ENSP00000469760 UniProtKB/TrEMBL
  ENSP00000471524 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000471538 UniProtKB/TrEMBL
  ENSP00000473172 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000486242 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000492564 UniProtKB/TrEMBL
  ENSP00000492610 UniProtKB/TrEMBL
Ensembl Transcript ENST00000221413 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000593570 UniProtKB/TrEMBL
  ENST00000595090 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000595811 UniProtKB/TrEMBL
  ENST00000596247 UniProtKB/TrEMBL
  ENST00000596837 UniProtKB/TrEMBL
  ENST00000601968 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000627972 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000639391 UniProtKB/TrEMBL
  ENST00000640699 UniProtKB/TrEMBL
Gene3D-CATH 2.40.50.360 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000183207 GTEx
HGNC ID HGNC:10475 ENTREZGENE
Human Proteome Map RUVBL2 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NA-bd_OB-fold UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RuvB-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RuvB-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RUVBL2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RUVBL2_DII UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIP49_P-loop UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10856 UniProtKB/Swiss-Prot
NCBI Gene 10856 ENTREZGENE
OMIM 604788 OMIM
PANTHER PTHR11093 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11093:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TIP49 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIP49_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34888 PharmGKB, RGD
SMART AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50249 UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W2PS22_HUMAN UniProtKB/TrEMBL
  A0A1W2PS48_HUMAN UniProtKB/TrEMBL
  B3KNL2 ENTREZGENE, UniProtKB/TrEMBL
  M0QXI6_HUMAN UniProtKB/TrEMBL
  M0QXZ7_HUMAN UniProtKB/TrEMBL
  M0QYD8_HUMAN UniProtKB/TrEMBL
  M0R0Y3_HUMAN UniProtKB/TrEMBL
  M0R0Z0_HUMAN UniProtKB/TrEMBL
  Q9Y230 ENTREZGENE, UniProtKB/Swiss-Prot
  X6R2L4_HUMAN UniProtKB/TrEMBL
UniProt Secondary B3KQ59 UniProtKB/Swiss-Prot
  E7ETE5 UniProtKB/Swiss-Prot
  Q6FIB9 UniProtKB/Swiss-Prot
  Q6PK27 UniProtKB/Swiss-Prot
  Q9Y361 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 RUVBL2  RuvB like AAA ATPase 2    RuvB-like AAA ATPase 2  Symbol and/or name change 5135510 APPROVED
2013-09-17 RUVBL2  RuvB-like AAA ATPase 2    RuvB-like 2 (E. coli)  Symbol and/or name change 5135510 APPROVED
2011-08-16 RUVBL2  RuvB-like 2 (E. coli)  RUVBL2  RuvB-like 2 (E. coli)  Symbol and/or name change 5135510 APPROVED