ATAD2 (ATPase family AAA domain containing 2) - Rat Genome Database

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Gene: ATAD2 (ATPase family AAA domain containing 2) Homo sapiens
Analyze
Symbol: ATAD2
Name: ATPase family AAA domain containing 2
RGD ID: 1312522
HGNC Page HGNC
Description: Exhibits ATPase activity. Involved in positive regulation of transcription, DNA-templated. Localizes to nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AAA nuclear coregulator cancer-associated protein; ANCCA; ATPase family AAA domain-containing protein 2; ATPase family, AAA domain containing 2; CT137; DKFZp667N1320; MGC131938; MGC142216; MGC29843; MGC5254; PRO2000
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8123,319,850 - 123,416,350 (-)EnsemblGRCh38hg38GRCh38
GRCh388123,319,850 - 123,396,447 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378124,332,090 - 124,408,687 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368124,401,922 - 124,477,868 (-)NCBINCBI36hg18NCBI36
Build 348124,401,921 - 124,477,868NCBI
Celera8120,520,748 - 120,596,364 (-)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8119,657,854 - 119,734,371 (-)NCBIHuRef
CHM1_18124,372,552 - 124,449,135 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
1,1-dichloroethene  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-methylcholine  (EXP)
3-methylcholanthrene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
adefovir pivoxil  (EXP)
all-trans-retinoic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP)
cefaloridine  (ISO)
chloroacetaldehyde  (EXP)
chromium(6+)  (ISO)
cidofovir anhydrous  (EXP)
cisplatin  (EXP,ISO)
clodronic acid  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
Enterolactone  (EXP)
ethanol  (ISO)
genistein  (EXP)
gentamycin  (ISO)
glycerol 2-phosphate  (EXP)
indole-3-methanol  (ISO)
isoprenaline  (ISO)
L-ascorbic acid  (EXP)
lucanthone  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
nickel atom  (EXP)
oxaliplatin  (ISO)
paracetamol  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phytoestrogen  (EXP)
pirinixic acid  (EXP)
piroxicam  (EXP)
progesterone  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
senecionine  (ISO)
Senkirkine  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
succimer  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP,ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vincristine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:14702039   PMID:15302935   PMID:15334068   PMID:15342556   PMID:15489334   PMID:16712791   PMID:17081983   PMID:17998543   PMID:18029348   PMID:19056867   PMID:19318566   PMID:19843847  
PMID:20374707   PMID:20855524   PMID:20864510   PMID:21873635   PMID:22586326   PMID:22658674   PMID:22771493   PMID:22914773   PMID:23393560   PMID:23752268   PMID:23775406   PMID:24391143  
PMID:24552534   PMID:24761900   PMID:24805933   PMID:25281560   PMID:25377252   PMID:25640309   PMID:25687855   PMID:25693804   PMID:25813398   PMID:25934333   PMID:26308378   PMID:26344197  
PMID:26459632   PMID:26496610   PMID:26497681   PMID:26527032   PMID:26777405   PMID:26819280   PMID:27131099   PMID:27565322   PMID:27612420   PMID:28415780   PMID:28591577   PMID:28763839  
PMID:28798233   PMID:29117863   PMID:29395067   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29958090   PMID:29987050   PMID:30404004   PMID:30442662   PMID:30520161   PMID:30639242  
PMID:30816483   PMID:30948266   PMID:30993715   PMID:31180492   PMID:31186081   PMID:31527615   PMID:31733289   PMID:31746426   PMID:31789405   PMID:31959473   PMID:32015101   PMID:32044716  
PMID:32462022   PMID:32572920   PMID:32694731   PMID:32835657  


Genomics

Comparative Map Data
ATAD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8123,319,850 - 123,416,350 (-)EnsemblGRCh38hg38GRCh38
GRCh388123,319,850 - 123,396,447 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378124,332,090 - 124,408,687 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368124,401,922 - 124,477,868 (-)NCBINCBI36hg18NCBI36
Build 348124,401,921 - 124,477,868NCBI
Celera8120,520,748 - 120,596,364 (-)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8119,657,854 - 119,734,371 (-)NCBIHuRef
CHM1_18124,372,552 - 124,449,135 (-)NCBICHM1_1
Atad2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391557,957,440 - 57,998,921 (-)NCBIGRCm39mm39
GRCm39 Ensembl1557,957,440 - 57,998,478 (-)Ensembl
GRCm381558,094,044 - 58,135,525 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1558,094,044 - 58,135,082 (-)EnsemblGRCm38mm10GRCm38
MGSCv371557,925,602 - 57,966,637 (-)NCBIGRCm37mm9NCBIm37
MGSCv361557,924,128 - 57,965,152 (-)NCBImm8
Celera1559,614,067 - 59,655,014 (-)NCBICelera
Cytogenetic Map15D1NCBI
Atad2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2789,634,123 - 89,676,738 (-)NCBI
Rnor_6.0 Ensembl797,984,862 - 98,026,052 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0797,984,754 - 98,027,379 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0798,589,668 - 98,631,755 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4794,808,296 - 94,851,986 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1794,822,723 - 94,886,549 (-)NCBI
Celera786,405,901 - 86,448,563 (-)NCBICelera
Cytogenetic Map7q33NCBI
Atad2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555402,166,636 - 2,227,360 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555402,166,708 - 2,228,077 (-)NCBIChiLan1.0ChiLan1.0
ATAD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18122,770,893 - 122,846,957 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8122,770,893 - 122,846,958 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08120,014,794 - 120,091,465 (-)NCBIMhudiblu_PPA_v0panPan3
ATAD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11321,667,214 - 21,733,028 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1321,667,221 - 21,732,939 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1321,632,745 - 21,707,473 (-)NCBI
ROS_Cfam_1.01322,007,285 - 22,082,006 (-)NCBI
UMICH_Zoey_3.11321,735,686 - 21,810,589 (-)NCBI
UNSW_CanFamBas_1.01321,838,143 - 21,912,711 (-)NCBI
UU_Cfam_GSD_1.01322,081,783 - 22,156,297 (-)NCBI
Atad2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530316,560,734 - 16,617,531 (+)NCBI
SpeTri2.0NW_00493647023,986,895 - 24,043,609 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATAD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl416,012,561 - 16,082,638 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1416,012,278 - 16,082,343 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2416,755,859 - 16,823,919 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ATAD2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18117,894,362 - 117,977,699 (-)NCBI
ChlSab1.1 Ensembl8117,895,112 - 117,977,167 (-)Ensembl
Atad2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473531,570,336 - 31,637,253 (+)NCBI

Position Markers
WI-20906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,332,125 - 124,332,380UniSTSGRCh37
Build 368124,401,306 - 124,401,561RGDNCBI36
Celera8120,520,783 - 120,521,038RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,657,889 - 119,658,144UniSTS
GeneMap99-GB4 RH Map8476.51UniSTS
Whitehead-RH Map8642.7UniSTS
NCBI RH Map81461.6UniSTS
RH80934  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,333,114 - 124,333,320UniSTSGRCh37
Build 368124,402,295 - 124,402,501RGDNCBI36
Celera8120,521,772 - 120,521,978RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,658,878 - 119,659,084UniSTS
GeneMap99-GB4 RH Map8473.67UniSTS
RH80997  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,332,125 - 124,332,327UniSTSGRCh37
Build 368124,401,306 - 124,401,508RGDNCBI36
Celera8120,520,783 - 120,520,985RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,657,889 - 119,658,091UniSTS
GeneMap99-GB4 RH Map8476.41UniSTS
D8S1689  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,332,243 - 124,332,324UniSTSGRCh37
Build 368124,401,424 - 124,401,505RGDNCBI36
Celera8120,520,901 - 120,520,982RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,658,007 - 119,658,088UniSTS
RH77936  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,332,947 - 124,333,134UniSTSGRCh37
Build 368124,402,128 - 124,402,315RGDNCBI36
Celera8120,521,605 - 120,521,792RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,658,711 - 119,658,898UniSTS
GeneMap99-GB4 RH Map8476.41UniSTS
NCBI RH Map81461.6UniSTS
RH66014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,363,304 - 124,363,444UniSTSGRCh37
Build 368124,432,485 - 124,432,625RGDNCBI36
Celera8120,551,956 - 120,552,096RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,689,056 - 119,689,196UniSTS
GeneMap99-GB4 RH Map8474.57UniSTS
NCBI RH Map81459.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4103
Count of miRNA genes:1108
Interacting mature miRNAs:1363
Transcripts:ENST00000287394, ENST00000517666, ENST00000519124, ENST00000521496, ENST00000521903, ENST00000530065, ENST00000534257, ENST00000550993
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 295 917 225 138 803 125 1106 297 225 93 926 477 27 18 758 3
Low 2143 1939 1501 486 1048 340 3225 1836 3507 301 534 1136 148 1 1185 2005 2 2
Below cutoff 134 100 25 64 2 25 1 25

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_014109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC021305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF118088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY598335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP314109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA441499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB159561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000287394   ⟹   ENSP00000287394
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,319,850 - 123,396,447 (-)Ensembl
RefSeq Acc Id: ENST00000517666   ⟹   ENSP00000429331
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,319,850 - 123,396,434 (-)Ensembl
RefSeq Acc Id: ENST00000519124   ⟹   ENSP00000429617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,320,681 - 123,396,379 (-)Ensembl
RefSeq Acc Id: ENST00000521496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,344,513 - 123,396,401 (-)Ensembl
RefSeq Acc Id: ENST00000521903   ⟹   ENSP00000429213
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,320,502 - 123,416,350 (-)Ensembl
RefSeq Acc Id: ENST00000530065
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,372,662 - 123,380,914 (-)Ensembl
RefSeq Acc Id: ENST00000534257
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,359,244 - 123,369,388 (-)Ensembl
RefSeq Acc Id: ENST00000550993
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,356,100 - 123,357,621 (-)Ensembl
RefSeq Acc Id: NM_014109   ⟹   NP_054828
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,319,850 - 123,396,447 (-)NCBI
GRCh378124,332,090 - 124,408,705 (-)RGD
Build 368124,401,922 - 124,477,868 (-)NCBI Archive
Celera8120,520,748 - 120,596,364 (-)RGD
HuRef8119,657,854 - 119,734,371 (-)RGD
CHM1_18124,372,552 - 124,449,135 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516994   ⟹   XP_011515296
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,319,855 - 123,396,447 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516995   ⟹   XP_011515297
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,336,442 - 123,396,447 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516996   ⟹   XP_011515298
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,319,855 - 123,371,810 (-)NCBI
Sequence:
RefSeq Acc Id: XR_928326
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,319,855 - 123,396,447 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_054828   ⟸   NM_014109
- UniProtKB: Q6PL18 (UniProtKB/Swiss-Prot),   A0A024R9G7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515296   ⟸   XM_011516994
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011515298   ⟸   XM_011516996
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011515297   ⟸   XM_011516995
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000429331   ⟸   ENST00000517666
RefSeq Acc Id: ENSP00000429617   ⟸   ENST00000519124
RefSeq Acc Id: ENSP00000429213   ⟸   ENST00000521903
RefSeq Acc Id: ENSP00000287394   ⟸   ENST00000287394
Protein Domains
Bromo

Promoters
RGD ID:7214119
Promoter ID:EPDNEW_H12806
Type:initiation region
Name:ATAD2_1
Description:ATPase family, AAA domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12807  EPDNEW_H12809  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,396,430 - 123,396,490EPDNEW
RGD ID:6806504
Promoter ID:HG_KWN:62032
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_014109,   UC003YQJ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 368124,477,611 - 124,478,111 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.13(chr8:122751607-123361569)x3 copy number gain See cases [RCV000050761] Chr8:122751607..123361569 [GRCh38]
Chr8:123763846..124373809 [GRCh37]
Chr8:123833027..124442990 [NCBI36]
Chr8:8q24.13
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3 copy number gain See cases [RCV000133620] Chr8:122454392..128513076 [GRCh38]
Chr8:123466631..129525322 [GRCh37]
Chr8:123535812..129594504 [NCBI36]
Chr8:8q24.13-24.21
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
NM_014109.3(ATAD2):c.2864C>T (p.Ala955Val) single nucleotide variant not specified [RCV000482548] Chr8:123337812 [GRCh38]
Chr8:124350052 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.13(chr8:124238872-124416004)x1 copy number loss not provided [RCV000747810] Chr8:124238872..124416004 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8q24.13(chr8:124243771-124440262)x3 copy number gain not provided [RCV000747811] Chr8:124243771..124440262 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8q24.13(chr8:124259431-124390209)x3 copy number gain not provided [RCV000747812] Chr8:124259431..124390209 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8q24.13(chr8:124389608-124453866)x3 copy number gain not provided [RCV000747813] Chr8:124389608..124453866 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.13-24.21(chr8:123074293-131113892)x1 copy number loss not provided [RCV000848164] Chr8:123074293..131113892 [GRCh37]
Chr8:8q24.13-24.21
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.13(chr8:121938227-125485728)x1 copy number loss not provided [RCV001281354] Chr8:121938227..125485728 [GRCh37]
Chr8:8q24.12-24.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30123 AgrOrtholog
COSMIC ATAD2 COSMIC
Ensembl Genes ENSG00000156802 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000287394 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429213 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000429331 UniProtKB/TrEMBL
  ENSP00000429617 UniProtKB/TrEMBL
Ensembl Transcript ENST00000287394 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517666 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000519124 UniProtKB/TrEMBL
  ENST00000521496 ENTREZGENE
  ENST00000521903 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 1.20.920.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000156802 GTEx
HGNC ID HGNC:30123 ENTREZGENE
Human Proteome Map ATAD2 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA_lid_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANCCA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_AAA_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_AAA_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bromodomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bromodomain-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29028 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 29028 ENTREZGENE
OMIM 611941 OMIM
PANTHER PTHR23069:SF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA_lid_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bromodomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134895566 PharmGKB
PRINTS BROMODOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BROMODOMAIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BROMO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47370 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9G7 ENTREZGENE, UniProtKB/TrEMBL
  A0A0B4J211_HUMAN UniProtKB/TrEMBL
  ATAD2_HUMAN UniProtKB/Swiss-Prot
  E5RHW7_HUMAN UniProtKB/TrEMBL
  E5RIP2_HUMAN UniProtKB/TrEMBL
  Q6PL18 ENTREZGENE
UniProt Secondary Q14CR1 UniProtKB/Swiss-Prot
  Q658P2 UniProtKB/Swiss-Prot
  Q68CQ0 UniProtKB/Swiss-Prot
  Q6PJV6 UniProtKB/Swiss-Prot
  Q8N890 UniProtKB/Swiss-Prot
  Q9UHS5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-22 ATAD2  ATPase family AAA domain containing 2    ATPase family, AAA domain containing 2  Symbol and/or name change 5135510 APPROVED
2011-09-01 ATAD2  ATPase family, AAA domain containing 2  ATAD2  ATPase family, AAA domain containing 2  Symbol and/or name change 5135510 APPROVED