ACAA2 (acetyl-CoA acyltransferase 2) - Rat Genome Database

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Gene: ACAA2 (acetyl-CoA acyltransferase 2) Homo sapiens
Analyze
Symbol: ACAA2
Name: acetyl-CoA acyltransferase 2
RGD ID: 733990
HGNC Page HGNC
Description: Exhibits acetyl-CoA C-acetyltransferase activity and acyl-CoA hydrolase activity. Involved in cellular response to hypoxia; negative regulation of mitochondrial membrane permeability involved in apoptotic process; and negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway. Localizes to mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 3-ketoacyl-CoA thiolase, mitochondrial; acetyl-CoA acetyltransferase; acetyl-Coenzyme A acyltransferase 2; acyl-CoA hydrolase, mitochondrial; beta ketothiolase; beta-ketothiolase; DSAEC; FLJ35992; FLJ95265; mitochondrial 3-oxoacyl-CoA thiolase; mitochondrial 3-oxoacyl-Coenzyme A thiolase; T1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC231533.2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1849,782,164 - 49,813,953 (-)EnsemblGRCh38hg38GRCh38
GRCh381849,782,164 - 49,813,533 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371847,308,534 - 47,339,903 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361845,563,873 - 45,593,900 (-)NCBINCBI36hg18NCBI36
Build 341845,563,872 - 45,593,900NCBI
Celera1844,166,539 - 44,196,918 (-)NCBI
Cytogenetic Map18q21.1NCBI
HuRef1844,164,298 - 44,194,528 (-)NCBIHuRef
CHM1_11847,305,498 - 47,335,866 (-)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
(+)-dexrazoxane  (ISO)
(S)-nicotine  (ISO)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
1,4-benzoquinone  (EXP)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)propanoic acid  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (ISO)
alpha-hexachlorocyclohexane  (ISO)
ammonium chloride  (ISO)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
buspirone  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
ciglitazone  (EXP)
ciprofibrate  (ISO)
cisplatin  (EXP,ISO)
clobetasol  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
coumarin  (ISO)
coumestrol  (EXP)
cyclosporin A  (EXP,ISO)
cyproconazole  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (EXP)
dipentyl phthalate  (ISO)
disodium selenite  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
farnesol  (EXP)
fenofibrate  (EXP,ISO)
finasteride  (ISO)
flavone  (EXP)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
gemfibrozil  (ISO)
genistein  (EXP)
GW 4064  (EXP)
GW 7647  (EXP)
isotretinoin  (EXP)
leflunomide  (ISO)
methotrexate  (EXP,ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nicotine  (ISO)
nimesulide  (ISO)
obeticholic acid  (EXP)
oleic acid  (EXP)
ouabain  (EXP)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
phlorizin  (ISO)
pirinixic acid  (ISO)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
quercetin  (EXP)
resveratrol  (ISO)
rotenone  (ISO)
sarin  (EXP)
selenium atom  (EXP)
simvastatin  (ISO)
sodium fluoride  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
troglitazone  (ISO)
tunicamycin  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
zaragozic acid A  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

References

Additional References at PubMed
PMID:8125298   PMID:8241273   PMID:10856712   PMID:12477932   PMID:14702039   PMID:15242332   PMID:15489334   PMID:18193044   PMID:18371312   PMID:20571754   PMID:20679960   PMID:20877624  
PMID:20972250   PMID:21081503   PMID:21832049   PMID:21873635   PMID:22658674   PMID:22863883   PMID:22939629   PMID:23376485   PMID:23414517   PMID:23741361   PMID:23842279   PMID:25130324  
PMID:25478839   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26465331   PMID:26496610   PMID:27609421   PMID:28378594   PMID:28380382   PMID:28514442   PMID:28712289   PMID:29467282  
PMID:29564676   PMID:29568061   PMID:29955894   PMID:30559450   PMID:30833792   PMID:31056398   PMID:31091453   PMID:31536960   PMID:31586073   PMID:32877691   PMID:33144569  


Genomics

Comparative Map Data
ACAA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1849,782,164 - 49,813,953 (-)EnsemblGRCh38hg38GRCh38
GRCh381849,782,164 - 49,813,533 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371847,308,534 - 47,339,903 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361845,563,873 - 45,593,900 (-)NCBINCBI36hg18NCBI36
Build 341845,563,872 - 45,593,900NCBI
Celera1844,166,539 - 44,196,918 (-)NCBI
Cytogenetic Map18q21.1NCBI
HuRef1844,164,298 - 44,194,528 (-)NCBIHuRef
CHM1_11847,305,498 - 47,335,866 (-)NCBICHM1_1
Acaa2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391874,912,283 - 74,939,278 (+)NCBIGRCm39mm39
GRCm39 Ensembl1874,912,268 - 74,939,279 (+)Ensembl
GRCm381874,779,212 - 74,806,207 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1874,779,197 - 74,806,208 (+)EnsemblGRCm38mm10GRCm38
MGSCv371874,938,866 - 74,965,861 (+)NCBIGRCm37mm9NCBIm37
MGSCv361874,904,577 - 74,931,572 (+)NCBImm8
Celera1876,003,491 - 76,030,308 (+)NCBICelera
Cytogenetic Map18E2NCBI
cM Map1850.76NCBI
Acaa2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21868,345,136 - 68,373,246 (+)NCBI
Rnor_6.0 Ensembl1870,733,872 - 70,762,395 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01870,733,872 - 70,762,395 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01869,873,084 - 69,901,836 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41871,587,259 - 71,632,610 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11871,660,459 - 71,705,811 (+)NCBI
Celera1866,521,595 - 66,549,734 (+)NCBICelera
Cytogenetic Map18q12.2NCBI
Acaa2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540234,857,317 - 34,885,169 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540234,857,317 - 34,885,169 (-)NCBIChiLan1.0ChiLan1.0
ACAA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11846,512,374 - 46,542,737 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1846,512,374 - 46,542,737 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01843,164,504 - 43,195,038 (-)NCBIMhudiblu_PPA_v0panPan3
ACAA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1779,028,636 - 79,057,720 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha778,425,399 - 78,464,609 (+)NCBI
ROS_Cfam_1.0779,086,363 - 79,125,478 (+)NCBI
UMICH_Zoey_3.1778,802,328 - 78,841,679 (+)NCBI
UNSW_CanFamBas_1.0778,830,801 - 78,869,895 (+)NCBI
UU_Cfam_GSD_1.0779,116,676 - 79,155,898 (+)NCBI
Acaa2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494438,003,267 - 38,029,972 (+)NCBI
SpeTri2.0NW_00493649713,242,644 - 13,269,007 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACAA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl199,280,800 - 99,332,381 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1199,284,467 - 99,310,759 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21108,842,950 - 108,869,736 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACAA2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11831,152,067 - 31,181,020 (+)NCBI
ChlSab1.1 Ensembl1831,152,074 - 31,181,706 (+)Ensembl
Acaa2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477813,307,236 - 13,336,347 (-)NCBI

Position Markers
RH39218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371847,310,008 - 47,310,252UniSTSGRCh37
GRCh37X48,634,199 - 48,634,443UniSTSGRCh37
Build 36X48,519,143 - 48,519,387RGDNCBI36
CeleraX53,029,135 - 53,029,379RGD
Celera1844,166,673 - 44,166,917UniSTS
Cytogenetic Map18q21.1UniSTS
HuRef1844,164,432 - 44,164,676UniSTS
HuRefX46,294,192 - 46,294,436UniSTS
SHGC-132113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371847,309,921 - 47,310,205UniSTSGRCh37
Build 361845,563,919 - 45,564,203RGDNCBI36
Celera1844,166,586 - 44,166,870RGD
Cytogenetic Map18q21.1UniSTS
HuRef1844,164,345 - 44,164,629UniSTS
TNG Radiation Hybrid Map1818820.0UniSTS
D18S1356  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371844,541,032 - 44,541,177UniSTSGRCh37
GRCh371847,329,559 - 47,329,730UniSTSGRCh37
Build 361842,795,030 - 42,795,175RGDNCBI36
Celera1844,186,221 - 44,186,398UniSTS
Celera1841,348,490 - 41,348,635RGD
Cytogenetic Map18q21.1UniSTS
HuRef1841,398,859 - 41,399,004UniSTS
HuRef1844,183,829 - 44,184,009UniSTS
Marshfield Genetic Map1871.0UniSTS
SHGC-57883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371847,339,915 - 47,340,023UniSTSGRCh37
Build 361845,593,913 - 45,594,021RGDNCBI36
Celera1844,196,582 - 44,196,690RGD
Cytogenetic Map18q21.1UniSTS
HuRef1844,194,192 - 44,194,300UniSTS
TNG Radiation Hybrid Map1818789.0UniSTS
G35281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,634,676 - 48,634,848UniSTSGRCh37
Build 36X48,519,620 - 48,519,792RGDNCBI36
Cytogenetic Map18q21.1UniSTS
HuRefX46,294,669 - 46,294,841UniSTS
SGC30718  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371847,329,102 - 47,329,226UniSTSGRCh37
Build 361845,583,100 - 45,583,224RGDNCBI36
Celera1844,185,764 - 44,185,888RGD
Cytogenetic Map18q21.1UniSTS
HuRef1844,183,372 - 44,183,496UniSTS
GeneMap99-GB4 RH Map18347.85UniSTS
Whitehead-RH Map18345.8UniSTS
NCBI RH Map18594.6UniSTS
SHGC-12898  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371847,309,879 - 47,310,204UniSTSGRCh37
Build 361845,563,877 - 45,564,202RGDNCBI36
Celera1844,166,544 - 44,166,869RGD
Cytogenetic Map18q21.1UniSTS
HuRef1844,164,303 - 44,164,628UniSTS
GeneMap99-GB4 RH Map18347.85UniSTS
Whitehead-RH Map18345.8UniSTS
NCBI RH Map18589.6UniSTS
GeneMap99-G3 RH Map181874.0UniSTS
ACAA2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,634,331 - 48,634,491UniSTSGRCh37
GRCh371847,310,140 - 47,310,300UniSTSGRCh37
CeleraX53,029,087 - 53,029,247UniSTS
Celera1844,166,805 - 44,166,965UniSTS
HuRef1844,164,564 - 44,164,724UniSTS
HuRefX46,294,324 - 46,294,484UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:693
Count of miRNA genes:287
Interacting mature miRNAs:301
Transcripts:ENST00000285093, ENST00000585948, ENST00000586100, ENST00000586485, ENST00000587994, ENST00000589432, ENST00000591171
Prediction methods: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 3 3 3
Medium 2377 2501 1710 557 1528 461 4153 2121 3379 397 1387 1573 105 1204 2752 3
Low 62 490 13 64 419 1 203 76 355 21 73 40 69 1 36 3 2
Below cutoff 3 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000285093   ⟹   ENSP00000285093
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1849,782,164 - 49,813,533 (-)Ensembl
RefSeq Acc Id: ENST00000585948   ⟹   ENSP00000465095
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1849,795,776 - 49,811,531 (-)Ensembl
RefSeq Acc Id: ENST00000586100   ⟹   ENSP00000468157
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1849,795,811 - 49,813,953 (-)Ensembl
RefSeq Acc Id: ENST00000586485   ⟹   ENSP00000465045
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1849,794,320 - 49,813,937 (-)Ensembl
RefSeq Acc Id: ENST00000587994   ⟹   ENSP00000466015
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1849,783,505 - 49,813,953 (-)Ensembl
RefSeq Acc Id: ENST00000589432   ⟹   ENSP00000466466
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1849,783,503 - 49,813,042 (-)Ensembl
RefSeq Acc Id: ENST00000591171
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1849,783,505 - 49,786,619 (-)Ensembl
RefSeq Acc Id: NM_006111   ⟹   NP_006102
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,782,164 - 49,813,533 (-)NCBI
GRCh371847,309,874 - 47,340,306 (-)NCBI
Build 361845,563,873 - 45,593,900 (-)NCBI Archive
Celera1844,166,539 - 44,196,918 (-)RGD
HuRef1844,164,298 - 44,194,528 (-)RGD
CHM1_11847,305,498 - 47,335,866 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006102   ⟸   NM_006111
- UniProtKB: P42765 (UniProtKB/Swiss-Prot),   B3KNP8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000465095   ⟸   ENST00000585948
RefSeq Acc Id: ENSP00000468157   ⟸   ENST00000586100
RefSeq Acc Id: ENSP00000465045   ⟸   ENST00000586485
RefSeq Acc Id: ENSP00000466015   ⟸   ENST00000587994
RefSeq Acc Id: ENSP00000285093   ⟸   ENST00000285093
RefSeq Acc Id: ENSP00000466466   ⟸   ENST00000589432
Protein Domains
Dilute   Myosin motor   Thiolase_C   Thiolase_N

Promoters
RGD ID:6794762
Promoter ID:HG_KWN:28006
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000255921,   UC002LDX.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361845,593,906 - 45,594,772 (-)MPROMDB
RGD ID:7237305
Promoter ID:EPDNEW_H24399
Type:initiation region
Name:ACAA2_1
Description:acetyl-CoA acyltransferase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24400  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,813,523 - 49,813,583EPDNEW
RGD ID:7237311
Promoter ID:EPDNEW_H24400
Type:initiation region
Name:ACAA2_2
Description:acetyl-CoA acyltransferase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24399  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,813,937 - 49,813,997EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1
pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23
pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23
pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23
pathogenic
GRCh37/hg19 18q21.1(chr18:47099158-47469841)x3 copy number gain See cases [RCV000449258] Chr18:47099158..47469841 [GRCh37]
Chr18:18q21.1
uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1
pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23
pathogenic
GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3 copy number gain not provided [RCV000684057] Chr18:35866313..55082983 [GRCh37]
Chr18:18q12.2-21.31
pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.1(chr18:47107857-47463620)x3 copy number gain not provided [RCV000683994] Chr18:47107857..47463620 [GRCh37]
Chr18:18q21.1
uncertain significance
GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2 copy number gain not provided [RCV000739776] Chr18:18539806..49926444 [GRCh37]
Chr18:18q11.1-21.2
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_006111.3(ACAA2):c.592T>A (p.Tyr198Asn) single nucleotide variant not provided [RCV000901170] Chr18:49792313 [GRCh38]
Chr18:47318683 [GRCh37]
Chr18:18q21.1
benign
GRCh37/hg19 18q21.1(chr18:47103259-47463796)x3 copy number gain not provided [RCV000847296] Chr18:47103259..47463796 [GRCh37]
Chr18:18q21.1
uncertain significance
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 copy number gain not provided [RCV000847118] Chr18:45621155..61416536 [GRCh37]
Chr18:18q21.1-21.33
pathogenic
GRCh37/hg19 18q21.1(chr18:47097488-47470054)x3 copy number gain not provided [RCV000847688] Chr18:47097488..47470054 [GRCh37]
Chr18:18q21.1
uncertain significance
GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3 copy number gain not provided [RCV001006980] Chr18:20689919..49455212 [GRCh37]
Chr18:18q11.2-21.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:83 AgrOrtholog
COSMIC ACAA2 COSMIC
Ensembl Genes ENSG00000167315 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000285093 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000465045 UniProtKB/TrEMBL
  ENSP00000465095 UniProtKB/TrEMBL
  ENSP00000466015 UniProtKB/TrEMBL
  ENSP00000466466 UniProtKB/TrEMBL
  ENSP00000468157 UniProtKB/TrEMBL
Ensembl Transcript ENST00000285093 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000585948 UniProtKB/TrEMBL
  ENST00000586100 UniProtKB/TrEMBL
  ENST00000586485 UniProtKB/TrEMBL
  ENST00000587994 UniProtKB/TrEMBL
  ENST00000589432 UniProtKB/TrEMBL
Gene3D-CATH 3.40.47.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.850.10 UniProtKB/TrEMBL
GTEx ENSG00000167315 GTEx
HGNC ID HGNC:83 ENTREZGENE
Human Proteome Map ACAA2 Human Proteome Map
InterPro Dilute_dom UniProtKB/TrEMBL
  IQ_motif_EF-hand-BS UniProtKB/TrEMBL
  Kinesin_motor_dom_sf UniProtKB/TrEMBL
  Myo5b_CBD UniProtKB/TrEMBL
  Myosin_head_motor_dom UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/TrEMBL
  Thiolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiolase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiolase_acyl_enz_int_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiolase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiolase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiolase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiolase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10449 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10449 ENTREZGENE
OMIM 604770 OMIM
Pfam DIL UniProtKB/TrEMBL
  Myosin_head UniProtKB/TrEMBL
  PF00612 UniProtKB/TrEMBL
  Thiolase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiolase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24420 PharmGKB
PIRSF Ac-CoA_Ac_transf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE DILUTE UniProtKB/TrEMBL
  MYOSIN_MOTOR UniProtKB/TrEMBL
  PS50096 UniProtKB/TrEMBL
  THIOLASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THIOLASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THIOLASE_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DIL UniProtKB/TrEMBL
  MYSc UniProtKB/TrEMBL
  SM00015 UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/TrEMBL
  SSF53901 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs AcCoA-C-Actrans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R269_HUMAN UniProtKB/TrEMBL
  A0A0B4J2A4_HUMAN UniProtKB/TrEMBL
  B3KNP8 ENTREZGENE, UniProtKB/TrEMBL
  K7EJ68_HUMAN UniProtKB/TrEMBL
  K7EJB1_HUMAN UniProtKB/TrEMBL
  K7EME0_HUMAN UniProtKB/TrEMBL
  K7ER88_HUMAN UniProtKB/TrEMBL
  P42765 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q9BUT6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 ACAA2  acetyl-CoA acyltransferase 2  ACAA2  acetyl-Coenzyme A acyltransferase 2  Symbol and/or name change 5135510 APPROVED