Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

ADD to My Gene Set

Comment on Gene

View All Comments on Gene

Basic Info

Approved Symbol	RUVBL2
Symbol Alias	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2
Approved Name	RuvB-like AAA ATPase 2
Previous Name	RuvB (E coli homolog)-like 2, "RuvB-like 2 (E. coli)"
Name Alias	reptin, "INO80 complex subunit J"
Location	19q13.3
Position	chr19:48993448-49015995, 1
External Links	HGNC: 10475 Entrez Gene: 10856 Ensembl: ENSG00000183207 UCSC: uc002plr.1
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Drago, A., 2016		Freq(Significant SNPs/total SNPs%)=0.08. This gene encodes the second human homolog of the bacterial RuvB gene, a DNA helicase. 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.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 42)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IDA[10524211]	283
GO:0016020	membrane	cellular component	IEA	137

GO terms by database search (count: 40)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0071339	MLL1 complex	cellular component	IDA[15960975]	2
GO:0051082	unfolded protein binding	molecular function	TAS[10524211]	6
GO:0032508	DNA duplex unwinding	biological process	IDA[10524211]; IEA; TAS[10428817]	5
GO:0070062	extracellular vesicular exosome	cellular component	IDA[20458337]	176
GO:0071733	transcriptional activation by promoter-enhancer looping	biological process	IMP[23637611]	1
GO:0006338	chromatin remodeling	biological process	IMP[23637611]	8
GO:0005515	protein binding	molecular function	IPI[10966108]	563
GO:0006281	DNA repair	biological process	IEA	16
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0005524	ATP binding	molecular function	IEA	118
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IMP[23637611]	91
GO:0003678	DNA helicase activity	molecular function	IDA[10524211]	2
GO:0043967	histone H4 acetylation	biological process	IDA[14966270]	4
GO:0005622	intracellular	cellular component	IDA	17
GO:0071899	negative regulation of estrogen receptor binding	biological process	IMP[23637611]	1
GO:0005654	nucleoplasm	cellular component	IDA; TAS	163
GO:0004003	ATP-dependent DNA helicase activity	molecular function	TAS[10428817]	3
GO:0040008	regulation of growth	biological process	IEA	2
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding	molecular function	IDA[23637611]	5
GO:0016887	ATPase activity	molecular function	IDA[10966108]	13
GO:0071392	cellular response to estradiol stimulus	biological process	IMP[23637611]	8
GO:0043968	histone H2A acetylation	biological process	IDA[14966270]	2
GO:0071169	establishment of protein localization to chromatin	biological process	IMP[23637611]	1
GO:0005719	nuclear euchromatin	cellular component	IDA[23637611]	5
GO:0030529	ribonucleoprotein complex	cellular component	IEA	4
GO:0031011	Ino80 complex	cellular component	IDA[18026119]	3
GO:0016363	nuclear matrix	cellular component	IEA	7
GO:0031490	chromatin DNA binding	molecular function	IDA[23637611]	7
GO:0035267	NuA4 histone acetyltransferase complex	cellular component	IDA[10966108]	3
GO:0034644	cellular response to UV	biological process	IMP[18026119]	5
GO:0003684	damaged DNA binding	molecular function	IEA	5
GO:0042802	identical protein binding	molecular function	IDA[10966108]; IPI[10966108]	44
GO:0035066	positive regulation of histone acetylation	biological process	IMP[23637611]	3
GO:0000812	Swr1 complex	cellular component	IDA[24463511]	3
GO:0006325	chromatin organization	biological process	TAS	14
GO:0043141	ATP-dependent 5'-3' DNA helicase activity	molecular function	IEA	1
GO:0006457	protein folding	biological process	TAS[10524211]	7
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding	molecular function	IDA[23637611]	9
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0006310	DNA recombination	biological process	IEA	2

Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa00790	Folate biosynthesis	7
hsa00500	Starch and sucrose metabolism	5

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 11)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
RUVBL2	ATF2	NO	in vivo;yeast 2-hybrid	11713276
RUVBL2	FDFT1	NO	yeast 2-hybrid	16169070
RUVBL2	EXOSC10	NO	yeast 2-hybrid	15231747
RUVBL2	HDAC1	NO	in vitro;in vivo	15829968
RUVBL2	NDRG1	NO	in vivo	17220478
RUVBL2	RUVBL1	NO	in vitro;in vivo;yeast 2-hybrid	11080158 , 10524211 , 10966108 , 18358808
RUVBL2	HDAC4	NO	in vitro	15829968
RUVBL2	TERT	NO	in vivo	18358808
RUVBL2	CTNNB1	NO	in vivo	15829968
RUVBL2	BCL3	NO	in vivo	15829968
RUVBL2	DPCD	NO	yeast 2-hybrid	16189514

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
19p13-q13	chr19:0-58617616	1 (0/1/0)
Chr 19	chr19:0-58617616	2 (0/2/0)
19q13	chr19:31900000-58617616	2 (0/2/0)
19q13.33-qter	chr19:47500000-58617616	1 (0/1/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr19:48993448..49015995 View in gBrowse