Human Gene ATAD2 (ENST00000287394.10_7) from GENCODE V47lift37
  Description: ATPase family AAA domain containing 2 (from RefSeq NM_014109.4)
Gencode Transcript: ENST00000287394.10_7
Gencode Gene: ENSG00000156802.13_10
Transcript (Including UTRs)
   Position: hg19 chr8:124,332,090-124,408,687 Size: 76,598 Total Exon Count: 28 Strand: -
Coding Region
   Position: hg19 chr8:124,333,374-124,408,597 Size: 75,224 Coding Exon Count: 28 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:124,332,090-124,408,687)mRNA (may differ from genome)Protein (1390 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ATAD2_HUMAN
DESCRIPTION: RecName: Full=ATPase family AAA domain-containing protein 2; EC=3.6.1.3; AltName: Full=AAA nuclear coregulator cancer-associated protein; Short=ANCCA;
FUNCTION: May be a transcriptional coactivator of the nuclear receptor ESR1 required to induce the expression of a subset of estradiol target genes, such as CCND1, MYC and E2F1. May play a role in the recruitment or occupancy of CREBBP at some ESR1 target gene promoters. May be required for histone hyperacetylation. Involved in the estrogen-induced cell proliferation and cell cycle progression of breast cancer cells.
CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate.
SUBUNIT: Interacts with ESR1 and NCOA3 and these interactions are enhanced by estradiol. Interacts with acetylated lysine residues on histone H1.4, H2A, H2B and H3 (in vitro).
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Highly expressed in estrogen receptor positive breast tumors and in osteosarcoma tumors.
INDUCTION: Up-regulated in breast, uterus, colon, ovary, and stomach tumors. Induced in breast cancer cells overexpressing NCOA3 or treated with estrogen. Down-regulated in 5-fluorouracil- resistant derivatives of the colon cancer cell line HCT 116.
SIMILARITY: Belongs to the AAA ATPase family.
SIMILARITY: Contains 1 bromo domain.
SEQUENCE CAUTION: Sequence=AAF22032.1; Type=Erroneous initiation; Sequence=AAH10686.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part (676-679); Sequence=AAH19909.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ATAD2
Diseases sorted by gene-association score: charcot-marie-tooth disease, type 1e (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 20.88 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 154.81 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -30.9090-0.343 Picture PostScript Text
3' UTR -247.201284-0.193 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003593 - AAA+_ATPase
IPR003959 - ATPase_AAA_core
IPR003960 - ATPase_AAA_CS
IPR001487 - Bromodomain

Pfam Domains:
PF00004 - ATPase family associated with various cellular activities (AAA)
PF00439 - Bromodomain
PF07724 - AAA domain (Cdc48 subfamily)
PF17862 - AAA+ lid domain

SCOP Domains:
48371 - ARM repeat
47370 - Bromodomain
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3DAI - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q6PL18
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003682 chromatin binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016787 hydrolase activity
GO:0016887 ATPase activity
GO:0042393 histone binding

Biological Process:
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0031936 negative regulation of chromatin silencing
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC112942 - Homo sapiens cDNA clone IMAGE:6500507, containing frame-shift errors.
LF385044 - JP 2014500723-A/192547: Polycomb-Associated Non-Coding RNAs.
CR749832 - Homo sapiens mRNA; cDNA DKFZp781K1122 (from clone DKFZp781K1122).
AL833653 - Homo sapiens mRNA; cDNA DKFZp667N1320 (from clone DKFZp667N1320).
BC113656 - Homo sapiens ATPase family, AAA domain containing 2, mRNA (cDNA clone MGC:142216 IMAGE:8322708), complete cds.
BC143716 - Homo sapiens cDNA clone IMAGE:9052230, containing frame-shift errors.
AY598335 - Homo sapiens L16 mRNA, complete cds.
AK097133 - Homo sapiens cDNA FLJ39814 fis, clone SPLEN2009970, weakly similar to TAT-BINDING HOMOLOG 7.
BC007123 - Homo sapiens ATPase family, AAA domain containing 2, mRNA (cDNA clone IMAGE:3454033), with apparent retained intron.
MA620621 - JP 2018138019-A/192547: Polycomb-Associated Non-Coding RNAs.
BC010686 - Homo sapiens ATPase family, AAA domain containing 2, mRNA (cDNA clone IMAGE:3874239), partial cds.
JD150356 - Sequence 131380 from Patent EP1572962.
JD510589 - Sequence 491613 from Patent EP1572962.
JD284645 - Sequence 265669 from Patent EP1572962.
JD284318 - Sequence 265342 from Patent EP1572962.
BC019909 - Homo sapiens ATPase family, AAA domain containing 2, mRNA (cDNA clone IMAGE:5103948), complete cds.
AF118088 - Homo sapiens PRO2000 mRNA, complete cds.
JF432508 - Synthetic construct Homo sapiens clone IMAGE:100073729 ATPase family, AAA domain containing 2 (ATAD2) gene, encodes complete protein.
KJ904733 - Synthetic construct Homo sapiens clone ccsbBroadEn_14127 ATAD2 gene, encodes complete protein.
JD177452 - Sequence 158476 from Patent EP1572962.
JD559225 - Sequence 540249 from Patent EP1572962.
DL492698 - Novel nucleic acids.
DL491140 - Novel nucleic acids.
LF336686 - JP 2014500723-A/144189: Polycomb-Associated Non-Coding RNAs.
JD033849 - Sequence 14873 from Patent EP1572962.
LF336687 - JP 2014500723-A/144190: Polycomb-Associated Non-Coding RNAs.
MA572263 - JP 2018138019-A/144189: Polycomb-Associated Non-Coding RNAs.
MA572264 - JP 2018138019-A/144190: Polycomb-Associated Non-Coding RNAs.
LF336689 - JP 2014500723-A/144192: Polycomb-Associated Non-Coding RNAs.
JD179570 - Sequence 160594 from Patent EP1572962.
MA572266 - JP 2018138019-A/144192: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q6PL18 (Reactome details) participates in the following event(s):

R-HSA-8937369 ATAD2 binds ESR1
R-HSA-8866910 TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
R-HSA-8864260 Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: ATAD2_HUMAN, ENST00000287394.1, ENST00000287394.2, ENST00000287394.3, ENST00000287394.4, ENST00000287394.5, ENST00000287394.6, ENST00000287394.7, ENST00000287394.8, ENST00000287394.9, L16, NM_014109, PRO2000, Q14CR1, Q658P2, Q68CQ0, Q6PJV6, Q6PL18, Q8N890, Q9UHS5, uc317kmp.1, uc317kmp.2
UCSC ID: ENST00000287394.10_7
RefSeq Accession: NM_014109.4
Protein: Q6PL18 (aka ATAD2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.