• Gene id: 29028

Gene Summary

• Gene Symbol: ATAD2   Gene   UCSC   Ensembl
• Aliases: ANCCA, CT137, PRO2000
• Gene name: ATPase family AAA domain containing 2
• Alternate names: ATPase family AAA domain-containing protein 2, AAA nuclear coregulator cancer-associated protein,
• Gene location: 8q24.13 (123396446: 123319849)     Exons: 28     NC_000008.11
• Gene summary(Entrez): A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated wit
• OMIM: 611941

Protein Summary

• Protein general information: Q6PL18  
  • Name: ATPase family AAA domain containing protein 2 (EC 3.6.1.3) (AAA nuclear coregulator cancer associated protein) (ANCCA)
  • Length: 1390  
  • Mass: 158554
  • Tissue specificity: Highly expressed in estrogen receptor positive breast tumors and in osteosarcoma tumors. {ECO
• Sequence:

  MVVLRSSLELHNHSAASATGSLDLSSDFLSLEHIGRRRLRSAGAAQKKPAATTAKAGDGSSVKEVETYHRTRALR
  SLRKDAQNSSDSSFEKNVEITEQLANGRHFTRQLARQQADKKKEEHREDKVIPVTRSLRARNIVQSTEHLHEDNG
  DVEVRRSCRIRSRYSGVNQSMLFDKLITNTAEAVLQKMDDMKKMRRQRMRELEDLGVFNETEESNLNMYTRGKQK
  DIQRTDEETTDNQEGSVESSEEGEDQEHEDDGEDEDDEDDDDDDDDDDDDDDEDDEDEEDGEEENQKRYYLRQRK
  ATVYYQAPLEKPRHQRKPNIFYSGPASPARPRYRLSSAGPRSPYCKRMNRRRHAIHSSDSTSSSSSEDEQHFERR
  RKRSRNRAINRCLPLNFRKDELKGIYKDRMKIGASLADVDPMQLDSSVRFDSVGGLSNHIAALKEMVVFPLLYPE
  VFEKFKIQPPRGCLFYGPPGTGKTLVARALANECSQGDKRVAFFMRKGADCLSKWVGESERQLRLLFDQAYQMRP
  SIIFFDEIDGLAPVRSSRQDQIHSSIVSTLLALMDGLDSRGEIVVIGATNRLDSIDPALRRPGRFDREFLFSLPD
  KEARKEILKIHTRDWNPKPLDTFLEELAENCVGYCGADIKSICAEAALCALRRRYPQIYTTSEKLQLDLSSINIS
  AKDFEVAMQKMIPASQRAVTSPGQALSTVVKPLLQNTVDKILEALQRVFPHAEFRTNKTLDSDISCPLLESDLAY
  SDDDVPSVYENGLSQKSSHKAKDNFNFLHLNRNACYQPMSFRPRILIVGEPGFGQGSHLAPAVIHALEKFTVYTL
  DIPVLFGVSTTSPEETCAQVIREAKRTAPSIVYVPHIHVWWEIVGPTLKATFTTLLQNIPSFAPVLLLATSDKPH
  SALPEEVQELFIRDYGEIFNVQLPDKEERTKFFEDLILKQAAKPPISKKKAVLQALEVLPVAPPPEPRSLTAEEV
  KRLEEQEEDTFRELRIFLRNVTHRLAIDKRFRVFTKPVDPDEVPDYVTVIKQPMDLSSVISKIDLHKYLTVKDYL
  RDIDLICSNALEYNPDRDPGDRLIRHRACALRDTAYAIIKEELDEDFEQLCEEIQESRKKRGCSSSKYAPSYYHV
  MPKQNSTLVGDKRSDPEQNEKLKTPSTPVACSTPAQLKRKIRKKSNWYLGTIKKRRKISQAKDDSQNAIDHKIES
  DTEETQDTSVDHNETGNTGESSVEENEKQQNASESKLELRNNSNTCNIENELEDSRKTTACTELRDKIACNGDAS
  SSQIIHISDENEGKEMCVLRMTRARRSQVEQQQLITVEKALAILSQPTPSLVVDHERLKNLLKTVVKKSQNYNIF
  QLENLYAVISQCIYRHRKDHDKTSLIQKMEQEVENFSCSR

• Structural information:
  • Protein Domains: (1001..107-)
    (/note="Bromo-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00035"-)
  • Interpro: IPR003593  IPR041569  IPR031252  IPR003959  IPR003960   IPR001487  IPR036427  IPR027417  
  • Prosite: PS00674 PS50014
  • PDB: 3DAI 4QSP 4QSQ 4QSR 4QSS 4QST 4QSU 4QSV 4QSW 4QSX 4QUT 4QUU 4TT2 4TT4 4TT6 4TTE 4TU4 4TU6 4TYL 4TZ2 4TZ8 5A5N 5A5O 5A5P 5A5Q 5A5R 5A81 5A82 5A83 5EPB 5F36 5F3A 5LJ0 6CPS 6EPJ 6EPR 6EPS 6EPT 6EPU 6EPV 6EPW 6EPX 6HDN 6HDO 6HI3 6HI4 6HI5 6HI6 6HI7 6HI8 6HIA 6HIB 6HIC 6HID 6HIE 6S55 6S56 6S57
  • PDBsum: 3DAI 4QSP 4QSQ 4QSR 4QSS 4QST 4QSU 4QSV 4QSW 4QSX 4QUT 4QUU 4TT2 4TT4 4TT6 4TTE 4TU4 4TU6 4TYL 4TZ2 4TZ8 5A5N 5A5O 5A5P 5A5Q 5A5R 5A81 5A82 5A83 5EPB 5F36 5F3A 5LJ0 6CPS 6EPJ 6EPR 6EPS 6EPT 6EPU 6EPV 6EPW 6EPX 6HDN 6HDO 6HI3 6HI4 6HI5 6HI6 6HI7 6HI8 6HIA 6HIB 6HIC 6HID 6HIE 6S55 6S56 6S57
  • DIP: 46197
  • STRING: ENSP00000287394
• Other Databases: GeneCards:  ATAD2  Malacards:  ATAD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003682	chromatin binding	IBA	molecular function
GO:0042393	histone binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0016887	ATPase activity	IBA	molecular function
GO:0031936	negative regulation of chromatin silencing	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0016887	ATPase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016887	ATPase activity	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	TAS	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
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016887	ATPase activity	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray