Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10856
Gene name	RuvB like AAA ATPase 2
Gene symbol	RUVBL2
Synonyms (NCBI Gene)	CGI-46ECP-51ECP51INO80JREPTINRVB2TAP54-betaTIH2TIP48TIP49B
Chromosome	19
Chromosome location	19q13.33
Summary	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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT049723	hsa-miR-92a-3p	CLASH	23622248
MIRT042877	hsa-miR-324-3p	CLASH	23622248
MIRT036346	hsa-miR-1229-3p	CLASH	23622248
MIRT642218	hsa-miR-4660	HITS-CLIP	23824327
MIRT642217	hsa-miR-3944-5p	HITS-CLIP	23824327
MIRT642216	hsa-let-7a-3p	HITS-CLIP	23824327
MIRT642215	hsa-let-7b-3p	HITS-CLIP	23824327
MIRT642214	hsa-let-7f-1-3p	HITS-CLIP	23824327
MIRT642213	hsa-miR-98-3p	HITS-CLIP	23824327
MIRT642212	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT642211	hsa-let-7f-2-3p	HITS-CLIP	23824327
MIRT642210	hsa-miR-1185-1-3p	HITS-CLIP	23824327
MIRT642209	hsa-miR-1185-2-3p	HITS-CLIP	23824327
MIRT642208	hsa-miR-1301-3p	HITS-CLIP	23824327
MIRT642207	hsa-miR-5047	HITS-CLIP	23824327
MIRT642218	hsa-miR-4660	HITS-CLIP	23824327
MIRT642217	hsa-miR-3944-5p	HITS-CLIP	23824327
MIRT642216	hsa-let-7a-3p	HITS-CLIP	23824327
MIRT642215	hsa-let-7b-3p	HITS-CLIP	23824327
MIRT642214	hsa-let-7f-1-3p	HITS-CLIP	23824327
MIRT642213	hsa-miR-98-3p	HITS-CLIP	23824327
MIRT642212	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT642211	hsa-let-7f-2-3p	HITS-CLIP	23824327
MIRT642210	hsa-miR-1185-1-3p	HITS-CLIP	23824327
MIRT642209	hsa-miR-1185-2-3p	HITS-CLIP	23824327
MIRT642208	hsa-miR-1301-3p	HITS-CLIP	23824327
MIRT642207	hsa-miR-5047	HITS-CLIP	23824327
MIRT642218	hsa-miR-4660	HITS-CLIP	23824327
MIRT642217	hsa-miR-3944-5p	HITS-CLIP	23824327
MIRT642216	hsa-let-7a-3p	HITS-CLIP	23824327
MIRT642215	hsa-let-7b-3p	HITS-CLIP	23824327
MIRT642214	hsa-let-7f-1-3p	HITS-CLIP	23824327
MIRT642213	hsa-miR-98-3p	HITS-CLIP	23824327
MIRT642212	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT642211	hsa-let-7f-2-3p	HITS-CLIP	23824327
MIRT642210	hsa-miR-1185-1-3p	HITS-CLIP	23824327
MIRT642209	hsa-miR-1185-2-3p	HITS-CLIP	23824327
MIRT642208	hsa-miR-1301-3p	HITS-CLIP	23824327
MIRT642207	hsa-miR-5047	HITS-CLIP	23824327
MIRT642218	hsa-miR-4660	HITS-CLIP	23824327
MIRT642217	hsa-miR-3944-5p	HITS-CLIP	23824327
MIRT642216	hsa-let-7a-3p	HITS-CLIP	23824327
MIRT642215	hsa-let-7b-3p	HITS-CLIP	23824327
MIRT642214	hsa-let-7f-1-3p	HITS-CLIP	23824327
MIRT642213	hsa-miR-98-3p	HITS-CLIP	23824327
MIRT642212	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT642211	hsa-let-7f-2-3p	HITS-CLIP	23824327
MIRT642210	hsa-miR-1185-1-3p	HITS-CLIP	23824327
MIRT642209	hsa-miR-1185-2-3p	HITS-CLIP	23824327
MIRT642208	hsa-miR-1301-3p	HITS-CLIP	23824327
MIRT642207	hsa-miR-5047	HITS-CLIP	23824327

108

Show/Hide all (108)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000492	Process	Box C/D snoRNP assembly	IBA
GO:0000723	Process	Telomere maintenance	IEA
GO:0000723	Process	Telomere maintenance	ISO
GO:0000786	Component	Nucleosome	IDA	27153538
GO:0000786	Component	Nucleosome	IEA
GO:0000786	Component	Nucleosome	NAS	16634648
GO:0000791	Component	Euchromatin	IDA	23637611
GO:0000812	Component	Swr1 complex	IBA
GO:0000812	Component	Swr1 complex	IDA	24463511
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	23637611
GO:0000979	Function	RNA polymerase II core promoter sequence-specific DNA binding	IDA	23637611
GO:0001094	Function	TFIID-class transcription factor complex binding	IEA
GO:0003678	Function	DNA helicase activity	IBA
GO:0003678	Function	DNA helicase activity	IDA	10524211
GO:0003678	Function	DNA helicase activity	TAS	10428817
GO:0003714	Function	Transcription corepressor activity	IDA	11080158
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	10966108, 11080158, 16189514, 16230350, 16601686, 17636026, 18026119, 18087039, 18358808, 19299493, 19433865, 20211142, 20371770, 20864032, 25416956, 27705803, 28514442, 28561026, 29323271, 29601588, 29892012, 29959317, 32296183, 33205750, 33367824, 33961781, 35140242, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	10524211, 18026119, 19433865
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	19433865
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006275	Process	Regulation of DNA replication	IEA
GO:0006275	Process	Regulation of DNA replication	IMP	25016522
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	10428817
GO:0006282	Process	Regulation of DNA repair	IEA
GO:0006282	Process	Regulation of DNA repair	ISO
GO:0006310	Process	DNA recombination	IEA
GO:0006310	Process	DNA recombination	TAS	10428817
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006338	Process	Chromatin remodeling	IDA	21303910
GO:0006338	Process	Chromatin remodeling	IMP	23637611
GO:0006338	Process	Chromatin remodeling	NAS	16634648
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	16634648
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006457	Process	Protein folding	TAS	10524211
GO:0006974	Process	DNA damage response	IEA
GO:0008013	Function	Beta-catenin binding	IDA	11080158
GO:0008094	Function	ATP-dependent activity, acting on DNA	IEA
GO:0016020	Component	Membrane	IEA
GO:0016363	Component	Nuclear matrix	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	10966108, 33367824
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IMP	33205750
GO:0017025	Function	TBP-class protein binding	IDA	11080158
GO:0017025	Function	TBP-class protein binding	IEA
GO:0031011	Component	Ino80 complex	IBA
GO:0031011	Component	Ino80 complex	IDA	18026119, 21303910
GO:0031490	Function	Chromatin DNA binding	IDA	23637611
GO:0033044	Process	Regulation of chromosome organization	IEA
GO:0033044	Process	Regulation of chromosome organization	IMP	26340092
GO:0034644	Process	Cellular response to UV	IMP	18026119
GO:0035267	Component	NuA4 histone acetyltransferase complex	IBA
GO:0035267	Component	NuA4 histone acetyltransferase complex	IDA	10966108, 14966270, 27153538
GO:0035267	Component	NuA4 histone acetyltransferase complex	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0042802	Function	Identical protein binding	IDA	10966108
GO:0042802	Function	Identical protein binding	IPI	10966108, 21988832, 22748767
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042981	Process	Regulation of apoptotic process	NAS	14966270
GO:0043531	Function	ADP binding	IEA
GO:0045739	Process	Positive regulation of DNA repair	IEA
GO:0045739	Process	Positive regulation of DNA repair	ISO
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	27641337
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	27153538
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	23637611
GO:0045995	Process	Regulation of embryonic development	IEA
GO:0045995	Process	Regulation of embryonic development	ISO
GO:0050821	Process	Protein stabilization	NAS	29662061, 29844425, 31738558
GO:0051082	Function	Unfolded protein binding	TAS	10524211
GO:0051117	Function	ATPase binding	IEA
GO:0051726	Process	Regulation of cell cycle	IMP	26340092, 27153538
GO:0060382	Process	Regulation of DNA strand elongation	IEA
GO:0060382	Process	Regulation of DNA strand elongation	IMP	25016522
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0071169	Process	Establishment of protein localization to chromatin	IMP	23637611
GO:0071339	Component	MLL1 complex	IDA	15960975
GO:0071339	Component	MLL1 complex	IEA
GO:0071392	Process	Cellular response to estradiol stimulus	IMP	23637611
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	11080158
GO:0090671	Process	Telomerase RNA localization to Cajal body	HMP	25467444
GO:0097255	Component	R2TP complex	IBA
GO:0097255	Component	R2TP complex	IDA	26711270, 33367824
GO:0097255	Component	R2TP complex	IPI	29662061
GO:0101031	Component	Protein folding chaperone complex	IEA
GO:0101031	Component	Protein folding chaperone complex	IPI	29844425
GO:0120293	Component	Dynein axonemal particle	IEA
GO:0120293	Component	Dynein axonemal particle	ISS
GO:0140585	Function	Promoter-enhancer loop anchoring activity	IMP	23637611
GO:1904507	Process	Positive regulation of telomere maintenance in response to DNA damage	IEA
GO:1904507	Process	Positive regulation of telomere maintenance in response to DNA damage	ISO
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IDA	27153538
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IEA
GO:1990062	Component	RPAP3/R2TP/prefoldin-like complex	IEA
GO:1990062	Component	RPAP3/R2TP/prefoldin-like complex	IPI	31738558
GO:1990904	Component	Ribonucleoprotein complex	IEA
GO:2000779	Process	Regulation of double-strand break repair	NAS	14966270

MIM	HGNC	e!Ensembl
604788	10475	ENSG00000183207

Q9Y230

Protein name

RuvB-like 2 (EC 3.6.4.12) (48 kDa TATA box-binding protein-interacting protein) (48 kDa TBP-interacting protein) (51 kDa erythrocyte cytosolic protein) (ECP-51) (INO80 complex subunit J) (Repressing pontin 52) (Reptin 52) (TIP49b) (TIP60-associated protei

Protein 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 (P

PDB

2CQA , 2XSZ , 3UK6 , 5OAF , 6FO1 , 6H7X , 6HTS , 6IGM , 6K0R , 6QI8 , 6QI9 , 7AHO , 7OLE , 7P6X , 7ZI4 , 8QR1 , 8X15 , 8X19 , 8X1C , 8XVG , 8XVT , 9C57 , 9C62 , 9EMA , 9EMC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06068	TIP49	21 → 365	TIP49 P-loop domain	Domain
PF17856	TIP49_C	370 → 435	TIP49 AAA-lid domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. Highly expressed in testis and thymus. {ECO:0000269|PubMed:10428817}.

Sequence

MATVTATTKVPEIRDVTRIERIGAHSHIRGLGLDDALEPRQASQGMVGQLAARRAAGVVL
EMIREGKIAGRAVLIAGQPGTGKTAIAMGMAQALGPDTPFTAIAGSEIFSLEMSKTEALT
QAFRRSIGVRIKEETEIIEGEVVEIQIDRPATGTGSKVGKLTLKTTEMETIYDLGTKMIE
SLTKDKVQAGDVITIDKATGKISKLGRSFTRARDYDAMGSQTKFVQCPDGELQKRKEVVH
TVSLHEIDVINSRTQGFLALFSGDTGEIKSEVREQINAKVAEWREEGKAEIIPGVLFIDE
VHMLDIESFSFLNRALESDMAPVLIMATNRGITRIRGTSYQSPHGIPIDLLDRLLIVSTT
PYSEKDTKQILRIRCEEEDVEMSEDAYTVLTRIGLETSLRYAIQLITAASLVCRKRKGTE
VQVDDIKRVYSLFLDESRSTQYMKEYQDAFLFNELKGETMDTS

Sequence length

463

Interactions

View interactions

	KEGG		Reactome
	ATP-dependent chromatin remodeling		Telomere Extension By Telomerase

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (21)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	10998447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19877184, 25875766	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23233483, 27999200	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21763315		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	27666924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	25428364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	17657734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	19403135, 21511255		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	23403462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31138842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17657734, 25875766, 28833338, 31572066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31883965	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10998447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29873033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21763315		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	10998447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	39985176	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17657734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	23977108	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	25609707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20509972	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RUVBL2 (RuvB like AAA ATPase 2)