• Gene id: 54454

Gene Summary

• Gene Symbol: ATAD2B   Gene   UCSC   Ensembl
• Gene name: ATPase family AAA domain containing 2B
• Alternate names: ATPase family AAA domain-containing protein 2B,
• Gene location: 2p24.1-p23.3 (23927122: 23687623)     Exons: 40     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the AAA ATPase family. This family member includes an N-terminal bromodomain. It has been found to be localized to the nucleus, partly to replication sites, consistent with a chromatin-related function. Alternat
• OMIM: 616261

Protein Summary

• Protein general information: Q9ULI0  
  • Name: ATPase family AAA domain containing protein 2B
  • Length: 1458  
  • Mass: 164914
• Sequence:

  MVNTRKSSLRLLGSKSPGPGPGPGAGAEPGATGGSSHFISSRTRSSKTRAASCPAAKAGGSGGAGVTLDEARKVE
  VDGSLSDSHVSPPAKRTLKQPDSVCKDKSKSRSTGQREEWNLSTGQARLTSQPGATLPNGHSGLSLRSHPLRGEK
  KGDGDLSCINGDMEVRKSCRSRKNRFESVNQSLLFDQLVNSTAEAVLQEMDNINIRQNRRSGEVERLRMWTDTEF
  ENMDMYSRVKRRRKSLRRNSYGIQNHHEVSTEGEEEESQEEDGDIEVEEAEGEENDRPYNLRQRKTVDRYQAPPI
  VPAHQKKRENTLFDIHRSPARRSHIRRKKHAIHSSDTTSSDEERFERRKSKSMARARNRCLPMNFRAEDLASGIL
  RERVKVGASLADVDPMNIDKSVRFDSIGGLSHHIHALKEMVVFPLLYPEIFEKFKIQPPRGCLFYGPPGTGKTLV
  ARALANECSQGDKKVAFFMRKGADCLSKWVGESERQLRLLFDQAYLMRPSIIFFDEIDGLAPVRSSRQDQIHSSI
  VSTLLALMDGLDNRGEIVVIGATNRLDSIDPALRRPGRFDREFLFNLPDQKARKHILQIHTRDWNPKLSDAFLGE
  LAEKCVGYCGADIKALCTEAALIALRRRYPQIYASSHKLQLDVSSIVLSAQDFYHAMQNIVPASQRAVMSSGHAL
  SPIIRPLLERSFNNILAVLQKVFPHAEISQSDKKEDIETLILEDSEDENALSIFETNCHSGSPKKQSSSAAIHKP
  YLHFTMSPYHQPTSYRPRLLLSGERGSGQTSHLAPALLHTLERFSVHRLDLPALYSVSAKTPEESCAQIFREARR
  TVPSIVYMPHIGDWWEAVSETVRATFLTLLQDIPSFSPIFLLSTSETMYSELPEEVKCIFRIQYEEVLYIQRPIE
  EDRRKFFQELILNQASMAPPRRKHAALCAMEVLPLALPSPPRQLSESEKSRMEDQEENTLRELRLFLRDVTKRLA
  TDKRFNIFSKPVDIEEVSDYLEVIKEPMDLSTVITKIDKHNYLTAKDFLKDIDLICSNALEYNPDKDPGDKIIRH
  RACTLKDTAHAIIAAELDPEFNKLCEEIKEARIKRGLSVTSEQINPHSTGARKTETRVEEAFRHKQRNPMDVWHN
  SANKCAFRVRRKSRRRSQWGKGIIKKRKVNNLKKDEEDTKFADYENHTEDRKLLENGEFEVSTDCHEENGEETGD
  LSMTNDESSCDIMDLDQGQRLNNGAGTKENFASTEEESSNESLLVNSSSSLNPEQTSRKETFLKGNCLNGEASTD
  SFEGIPVLECQNGKLEVVSFCDSGDKCSSEQKILLEDQSKEKPETSTENHGDDLEKLEALECSNNEKLEPGSDVE
  VKDAELDKEGASKVKKYRKLILEQAKTTSLELVPEEPSEPVPPLIVDRERLKKLLDLLVDKSNNLAVDQLERLYS
  LLSQCIYRHRKDYDKSQLVEEMERTVHMFETFL

• Structural information:
  • Protein Domains: (975..104-)
    (/note="Bromo-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00035"-)
  • Interpro: IPR003593  IPR041569  IPR003959  IPR003960  IPR001487   IPR036427  IPR018359  IPR027417  
  • Prosite: PS00674 PS00633 PS50014
  • PDB: 2DKW 3LXJ
  • PDBsum: 2DKW 3LXJ
  • STRING: ENSP00000238789
• Other Databases: GeneCards:  ATAD2B  Malacards:  ATAD2B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042393	histone binding	IBA	molecular function
GO:0003682	chromatin binding	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0031936	negative regulation of chromatin silencing	IBA	biological process
GO:0016887	ATPase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0070577	lysine-acetylated histone binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq