• Gene id: 10856

Gene Summary

• Gene Symbol: RUVBL2   Gene   UCSC   Ensembl
• Aliases: CGI-46, ECP-51, ECP51, INO80J, REPTIN, RVB2, TAP54-beta, TIH2, TIP48, TIP49B
• Gene name: RuvB like AAA ATPase 2
• Alternate names: ruvB-like 2, 48 kDa TATA box-binding protein-interacting protein, 48 kDa TBP-interacting protein, 51 kDa erythrocyte cytosolic protein, INO80 complex subunit J, RuvB (E coli homolog)-like 2, TIP60-associated protein 54-beta, erythrocyte cytosolic protein, 51-KD, ,
• Gene location: 19q13.33 (32164594: 32168280)     Exons: 9     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 604788

Protein Summary

• Protein general information: Q9Y230  
  • 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
  • Length: 463  
  • Mass: 51157
  • Tissue specificity: Ubiquitously expressed. Highly expressed in testis and thymus. {ECO
• Sequence:

  MATVTATTKVPEIRDVTRIERIGAHSHIRGLGLDDALEPRQASQGMVGQLAARRAAGVVLEMIREGKIAGRAVLI
  AGQPGTGKTAIAMGMAQALGPDTPFTAIAGSEIFSLEMSKTEALTQAFRRSIGVRIKEETEIIEGEVVEIQIDRP
  ATGTGSKVGKLTLKTTEMETIYDLGTKMIESLTKDKVQAGDVITIDKATGKISKLGRSFTRARDYDAMGSQTKFV
  QCPDGELQKRKEVVHTVSLHEIDVINSRTQGFLALFSGDTGEIKSEVREQINAKVAEWREEGKAEIIPGVLFIDE
  VHMLDIESFSFLNRALESDMAPVLIMATNRGITRIRGTSYQSPHGIPIDLLDRLLIVSTTPYSEKDTKQILRIRC
  EEEDVEMSEDAYTVLTRIGLETSLRYAIQLITAASLVCRKRKGTEVQVDDIKRVYSLFLDESRSTQYMKEYQDAF
  LFNELKGETMDTS

• Structural information:
  • Interpro: IPR003593  IPR027417  IPR027238  IPR041048  IPR037942   IPR042487  IPR010339  
  • PDB: 2CQA 2XSZ 3UK6 5OAF 6FO1 6H7X 6HTS 6IGM 6QI8 6QI9
  • PDBsum: 2CQA 2XSZ 3UK6 5OAF 6FO1 6H7X 6HTS 6IGM 6QI8 6QI9
  • DIP: 28153
  • STRING: ENSP00000473172
• Other Databases: GeneCards:  RUVBL2  Malacards:  RUVBL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003678	DNA helicase activity	IBA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0035267	NuA4 histone acetyltransferase complex	IBA	cellular component
GO:0000492	box C/D snoRNP assembly	IBA	biological process
GO:0000812	Swr1 complex	IBA	cellular component
GO:0006338	chromatin remodeling	IBA	biological process
GO:0016573	histone acetylation	IBA	biological process
GO:0031011	Ino80 complex	IBA	cellular component
GO:0097255	R2TP complex	IBA	cellular component
GO:0071339	MLL1 complex	IDA	cellular component
GO:0031011	Ino80 complex	IDA	cellular component
GO:0031011	Ino80 complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000812	Swr1 complex	IDA	cellular component
GO:0097255	R2TP complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0034644	cellular response to UV	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0035267	NuA4 histone acetyltransferase complex	IEA	cellular component
GO:0043139	5'-3' DNA helicase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0031011	Ino80 complex	IEA	cellular component
GO:0097255	R2TP complex	IEA	cellular component
GO:0006325	chromatin organization	IEA	biological process
GO:0004386	helicase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006310	DNA recombination	IEA	biological process
GO:0040008	regulation of growth	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0003678	DNA helicase activity	TAS	molecular function
GO:0051082	unfolded protein binding	TAS	molecular function
GO:0006310	DNA recombination	TAS	biological process
GO:0006281	DNA repair	TAS	biological process
GO:0006457	protein folding	TAS	biological process
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005622	intracellular	IDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990904	ribonucleoprotein complex	IEA	cellular component
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0051117	ATPase binding	IEA	molecular function
GO:0043531	ADP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0001094	TFIID-class transcription factor complex binding	IEA	molecular function
GO:1904874	positive regulation of telomerase RNA localization to Cajal body	HMP	biological process
GO:0005654	nucleoplasm	IEA	cellular component
GO:0016363	nuclear matrix	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:1903507	negative regulation of nucleic acid-templated transcription	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0035267	NuA4 histone acetyltransferase complex	IDA	cellular component
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding	IDA	molecular function
GO:0035267	NuA4 histone acetyltransferase complex	IDA	cellular component
GO:0003678	DNA helicase activity	IDA	molecular function
GO:0005719	nuclear euchromatin	IDA	cellular component
GO:0043968	histone H2A acetylation	IDA	biological process
GO:0043967	histone H4 acetylation	IDA	biological process
GO:0042802	identical protein binding	IDA	molecular function
GO:0017025	TBP-class protein binding	IDA	molecular function
GO:0008013	beta-catenin binding	IDA	molecular function
GO:0031490	chromatin DNA binding	IDA	molecular function
GO:0016887	ATPase activity	IDA	contributes to
GO:0005634	nucleus	IDA	cellular component
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0090090	negative regulation of canonical Wnt signaling pathway	IDA	biological process
GO:0071733	transcriptional activation by promoter-enhancer looping	IMP	biological process
GO:0071392	cellular response to estradiol stimulus	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0071169	establishment of protein localization to chromatin	IMP	biological process
GO:0035066	positive regulation of histone acetylation	IMP	biological process
GO:0006338	chromatin remodeling	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0071899	negative regulation of estrogen receptor binding	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)