Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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

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

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Region: chr19:48993448..49015995 View in gBrowse