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Aliases for ACAA2 Gene

Aliases for ACAA2 Gene

  • Acetyl-CoA Acyltransferase 2 2 3 5
  • Mitochondrial 3-Oxoacyl-Coenzyme A Thiolase 2 3
  • Mitochondrial 3-Oxoacyl-CoA Thiolase 3 4
  • Acetyl-Coenzyme A Acyltransferase 2 2 3
  • T1 3 4
  • 3-Ketoacyl-CoA Thiolase, Mitochondrial 3
  • Acetyl-CoA Acyltransferase 4
  • Beta Ketothiolase 3
  • Beta-Ketothiolase 4
  • EC 4
  • DSAEC 3

External Ids for ACAA2 Gene

Previous GeneCards Identifiers for ACAA2 Gene

  • GC18M047418
  • GC18M047109
  • GC18M047197
  • GC18M045562
  • GC18M045563
  • GC18M047309
  • GC18M044164

Summaries for ACAA2 Gene

Entrez Gene Summary for ACAA2 Gene

  • The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq, Jul 2008]

GeneCards Summary for ACAA2 Gene

ACAA2 (Acetyl-CoA Acyltransferase 2) is a Protein Coding gene. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Metabolism. Gene Ontology (GO) annotations related to this gene include acetyl-CoA C-acyltransferase activity. An important paralog of this gene is ACAT2.

UniProtKB/Swiss-Prot for ACAA2 Gene

  • Abolishes BNIP3-mediated apoptosis and mitochondrial damage.

Gene Wiki entry for ACAA2 Gene

Additional gene information for ACAA2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACAA2 Gene

Genomics for ACAA2 Gene

GeneHancer (GH) Regulatory Elements for ACAA2 Gene

Promoters and enhancers for ACAA2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J049810 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 660.9 +1.2 1175 4.5 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ZNF213 ACAA2 GC18P049825 SNHG22 SCARNA17 ENSG00000252139 RPL17 CXXC1 MBD1 DYM GC18M049798
GH18J049848 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 19.2 -35.6 -35591 2.1 SREBF2 BMI1 RAD21 RFX5 GLIS2 ZNF366 SCRT2 RCOR1 FOS DEK MYO5B ACAA2 SCARNA17 ENSG00000252139 LIPG ENSG00000266997 ENSG00000201668 GC18M049872 SNHG22
GH18J049485 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.3 +324.1 324094 8.4 MLX FEZF1 DMAP1 YY1 E2F8 ZNF143 SP3 NFYC ZFP41 SSRP1 C18orf32 RPL17 SNORD58C SNORD58B SNORD58A PIR56297 PIR54878 PIR54855 GC18M049520 GC18M049519
GH18J049788 Enhancer 0.9 Ensembl ENCODE 20.5 +25.0 25009 1 ELF3 PKNOX1 FOXA2 BACH1 MAX BATF IRF4 RAD21 ATF7 ZSCAN29 GC18M049763 ACAA2 ENSG00000252139 SCARNA17 GC18M049798
GH18J049832 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 8.8 -20.5 -20534 5 FOXA2 ARID4B ETS1 YY1 ATF7 FOS KLF13 NFKBIZ RXRA REST MYO5B ACAA2 LIPG ENSG00000266997 ENSG00000252139 SNHG22
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACAA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACAA2 gene promoter:
  • YY1
  • ZID
  • LCR-F1
  • Arnt
  • c-Myc
  • Max1
  • Pax-3
  • HTF
  • Msx-1
  • HSF1short

Genomic Locations for ACAA2 Gene

Genomic Locations for ACAA2 Gene
31,794 bases
Minus strand
30,462 bases
Minus strand

Genomic View for ACAA2 Gene

Genes around ACAA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACAA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACAA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACAA2 Gene

Proteins for ACAA2 Gene

  • Protein details for ACAA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    3-ketoacyl-CoA thiolase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • Q9BUT6

    Protein attributes for ACAA2 Gene

    397 amino acids
    Molecular mass:
    41924 Da
    Quaternary structure:
    • Homotetramer. Interacts with BNIP3.

    Three dimensional structures from OCA and Proteopedia for ACAA2 Gene

neXtProt entry for ACAA2 Gene

Post-translational modifications for ACAA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACAA2 Gene

No data available for DME Specific Peptides for ACAA2 Gene

Domains & Families for ACAA2 Gene

Gene Families for ACAA2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ACAA2 Gene

Suggested Antigen Peptide Sequences for ACAA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the thiolase family.
  • Belongs to the thiolase family.
genes like me logo Genes that share domains with ACAA2: view

Function for ACAA2 Gene

Molecular function for ACAA2 Gene

UniProtKB/Swiss-Prot Function:
Abolishes BNIP3-mediated apoptosis and mitochondrial damage.
UniProtKB/Swiss-Prot CatalyticActivity:
Acyl-CoA + acetyl-CoA = CoA + 3-oxoacyl-CoA.
GENATLAS Biochemistry:
acetyl-CoA acyltransferase 2,mitochondrial-3-oxoacyl-coenzyme A,thiolase,concluding the step of fatty acid beta oxidation

Enzyme Numbers (IUBMB) for ACAA2 Gene

Phenotypes From GWAS Catalog for ACAA2 Gene

Gene Ontology (GO) - Molecular Function for ACAA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003824 catalytic activity IEA --
GO:0003988 acetyl-CoA C-acyltransferase activity TAS,IBA --
GO:0005515 protein binding IPI 18371312
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with ACAA2: view
genes like me logo Genes that share phenotypes with ACAA2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ACAA2

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACAA2 Gene

Localization for ACAA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACAA2 Gene

Mitochondrion. Note=Colocalizes with BNIP3 in the mitochondria.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACAA2 gene
Compartment Confidence
extracellular 5
mitochondrion 5
peroxisome 2
cytosol 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ACAA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion NAS,IDA 8241273
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0070062 extracellular exosome HDA --
genes like me logo Genes that share ontologies with ACAA2: view

Pathways & Interactions for ACAA2 Gene

genes like me logo Genes that share pathways with ACAA2: view

UniProtKB/Swiss-Prot P42765-THIM_HUMAN

  • Pathway: Lipid metabolism; fatty acid metabolism.

Gene Ontology (GO) - Biological Process for ACAA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation IBA,TAS --
GO:0006695 cholesterol biosynthetic process NAS 8241273
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ACAA2: view

No data available for SIGNOR curated interactions for ACAA2 Gene

Drugs & Compounds for ACAA2 Gene

(7) Drugs for ACAA2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acetoacetyl-CoA Experimental Pharma 0
Hexanoyl-CoA Experimental Pharma 0
myristoyl-coa Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0
spermidine Experimental Pharma Antagonist, Pore Blocker 0

(46) Additional Compounds for ACAA2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
  • (2E)-Tetradecenoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
genes like me logo Genes that share compounds with ACAA2: view

Transcripts for ACAA2 Gene

mRNA/cDNA for ACAA2 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(640) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ACAA2 Gene

Acetyl-CoA acyltransferase 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACAA2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11
SP1: -
SP2: - -
SP3: -

Relevant External Links for ACAA2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ACAA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACAA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACAA2 Gene

This gene is overexpressed in Liver (x11.2).

Protein differential expression in normal tissues from HIPED for ACAA2 Gene

This gene is overexpressed in Liver, secretome (20.3), Liver (7.2), and Kidney (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACAA2 Gene

Protein tissue co-expression partners for ACAA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACAA2 Gene:


SOURCE GeneReport for Unigene cluster for ACAA2 Gene:


Evidence on tissue expression from TISSUES for ACAA2 Gene

  • Lung(4.7)
  • Liver(4.6)
  • Kidney(3.9)
  • Nervous system(3.9)
  • Intestine(2.9)
  • Heart(2.4)
genes like me logo Genes that share expression patterns with ACAA2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACAA2 Gene

Orthologs for ACAA2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ACAA2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ACAA2 34 33
  • 99.75 (n)
(Bos Taurus)
Mammalia ACAA2 34 33
  • 89.17 (n)
(Monodelphis domestica)
Mammalia ACAA2 34
  • 85 (a)
(Rattus norvegicus)
Mammalia Acaa2 33
  • 83.71 (n)
(Mus musculus)
Mammalia Acaa2 16 34 33
  • 83.63 (n)
(Ornithorhynchus anatinus)
Mammalia ACAA2 34
  • 83 (a)
(Canis familiaris)
Mammalia ACAA2 34
  • 65 (a)
(Gallus gallus)
Aves ACAA2 34 33
  • 74.81 (n)
(Anolis carolinensis)
Reptilia ACAA2 34
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia acaa2 33
  • 70.04 (n)
Str.8304 33
African clawed frog
(Xenopus laevis)
Amphibia acaa2-prov 33
(Danio rerio)
Actinopterygii acaa2 34 33
  • 69.7 (n)
Dr.5520 33
fruit fly
(Drosophila melanogaster)
Insecta yip2 34 35 33
  • 57.87 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006821 33
  • 56.09 (n)
(Caenorhabditis elegans)
Secernentea F53A2.7 34 35 33
  • 58.83 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG10 34
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5120 34
  • 61 (a)
Cin.1112 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1112 33
Species where no ortholog for ACAA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACAA2 Gene

Gene Tree for ACAA2 (if available)
Gene Tree for ACAA2 (if available)
Evolutionary constrained regions (ECRs) for ACAA2: view image

Paralogs for ACAA2 Gene

Paralogs for ACAA2 Gene

(4) SIMAP similar genes for ACAA2 Gene using alignment to 5 proteins:

  • K7EJ68_HUMAN
  • K7ER88_HUMAN Pseudogenes for ACAA2 Gene

genes like me logo Genes that share paralogs with ACAA2: view

Variants for ACAA2 Gene

Sequence variations from dbSNP and Humsavar for ACAA2 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1000049115 -- 49,801,380(-) C/A/T intron_variant
rs1000106961 -- 49,807,584(-) C/A intron_variant
rs1000116033 -- 49,802,710(-) C/T coding_sequence_variant, missense_variant
rs1000216044 -- 49,806,615(-) C/G intron_variant
rs1000221073 -- 49,807,256(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ACAA2 Gene

Variant ID Type Subtype PubMed ID
nsv473929 CNV novel sequence insertion 20440878
nsv516056 CNV gain 19592680
nsv576863 CNV gain 21841781

Variation tolerance for ACAA2 Gene

Residual Variation Intolerance Score: 37.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.18; 61.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACAA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACAA2 Gene

Disorders for ACAA2 Gene

Additional Disease Information for ACAA2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ACAA2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ACAA2 Gene

Publications for ACAA2 Gene

  1. Acetyl-Coenzyme A acyltransferase 2 attenuates the apoptotic effects of BNIP3 in two human cell lines. (PMID: 18371312) Cao W … Lu H (Biochimica et biophysica acta 2008) 3 4 22 58
  2. Cloning and sequence analysis of a full length cDNA encoding human mitochondrial 3-oxoacyl-CoA thiolase. (PMID: 8241273) Abe H … Mori M (Biochimica et biophysica acta 1993) 2 3 4 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PMID: 20571754) Fontaine-Bisson B … Franks PW (Diabetologia 2010) 3 44 58
  5. Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. (PMID: 18193044) Kathiresan S … Orho-Melander M (Nature genetics 2008) 3 44 58

Products for ACAA2 Gene

Sources for ACAA2 Gene

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