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ACAA2 Gene(Protein Coding)

Acetyl-CoA Acyltransferase 2

GCID:
GC18M049782
GIFtS:
61
Genes Participants
UDN Logo

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
  • EC 2.3.1.16 4 61
  • T1 3 4
  • 3-Ketoacyl-CoA Thiolase, Mitochondrial 3
  • Acetyl-CoA Acyltransferase 4
  • Beta-Ketothiolase 4
  • Beta Ketothiolase 3
  • EC 2.3.1 61
  • 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. Diseases associated with ACAA2 include Ketothiolase Deficiency. Among its related pathways are Fatty acid elongation and Mitochondrial Fatty Acid Beta-Oxidation. GO annotations related to this gene include poly(A) RNA binding and 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

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

Genomics for ACAA2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for ACAA2 Gene

Enhancers for ACAA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18G049848 1.4 Ensembl ENCODE dbSUPER 19.2 -35.6 -35591 2.1 TBP SREBF2 BMI1 RAD21 RFX5 GLIS2 ZNF366 SCRT2 RCOR1 FOS ACAA2 ENSG00000252139 SCARNA17 LIPG ENSG00000266997 ENSG00000201668 GC18M049872
GH18G049788 0.9 Ensembl ENCODE 20.5 +25.0 25010 1.0 ELF3 PKNOX1 FOXA2 BACH1 JUNB MAX RAD21 OSR2 IKZF1 ZSCAN29 ACAA2 ENSG00000252139 SCARNA17 GC18M049763 GC18M049798
GH18G049810 1.3 ENCODE dbSUPER 10.9 +1.2 1175 4.5 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 ZNF207 RPL17 ACAA2 DYM GC18M049798
GH18G049837 0.8 ENCODE 17.3 -24.3 -24297 1.1 SOX13 FOXA2 ATF1 ZNF792 ARID4B MAX CEBPG ZNF644 RAD21 RARA ACAA2 ENSG00000252139 SCARNA17 LIPG ENSG00000266997 ENSG00000201668 GC18M049872
GH18G049832 1.4 Ensembl ENCODE dbSUPER 8.9 -20.5 -20535 5.0 FOXA2 ATF1 ARID4B YY1 FOS PPARG KAT8 MAFF RCOR2 KDM1A ACAA2 LIPG MYO5B ENSG00000266997 ENSG00000252139
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACAA2 on UCSC Golden Path with GeneCards custom track

Promoters for ACAA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000103257 360 2401 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 ZNF207

Transcription factor binding sites by QIAGEN in the ACAA2 gene promoter:

Genomic Location for ACAA2 Gene

Chromosome:
18
Start:
49,782,167 bp from pter
End:
49,813,960 bp from pter
Size:
31,794 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for ACAA2 Gene

Proteins for ACAA2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    P42765-THIM_HUMAN
    Recommended name:
    3-ketoacyl-CoA thiolase, mitochondrial
    Protein Accession:
    P42765
    Secondary Accessions:
    • Q9BUT6

    Protein attributes for ACAA2 Gene

    Size:
    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

Protein Expression for ACAA2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ACAA2 Gene

P42765:
  • AKRTPFG
  • VIIASEDAVKKHNFTPLAR
  • KGKQTMQVDEH
  • GGAIALGHP
  • VTAGNAS
  • GIGPVPA
  • YLARHVGLRVG
  • CIGGGQGI
  • VNEAFAPQ
  • VGYFVSGCDP

Post-translational modifications for ACAA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACAA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ACAA2 Gene

Protein Domains for ACAA2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ACAA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P42765

UniProtKB/Swiss-Prot:

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

No data available for Gene Families for ACAA2 Gene

Function for ACAA2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for ACAA2 Gene

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

Enzyme Numbers (IUBMB) for ACAA2 Gene

Gene Ontology (GO) - Molecular Function for ACAA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0003824 catalytic activity IEA --
GO:0003988 acetyl-CoA C-acyltransferase activity TAS --
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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

COMPARTMENTS
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

Gene Ontology (GO) - Cellular Components for ACAA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,NAS 8241273
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0070062 extracellular exosome IDA 23376485
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 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

Products:

  1. Drug

(6) Drugs for ACAA2 Gene - From: HMDB

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
 10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
 1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
 4460-95-1
(2E)-Octenoyl-CoA
  • (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
 10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
 38795-33-4
genes like me logo Genes that share compounds with ACAA2: view

Transcripts for ACAA2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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: -
SP4:

Relevant External Links for ACAA2 Gene

GeneLoc Exon Structure for
ACAA2
ECgene alternative splicing isoforms for
ACAA2

Expression for ACAA2 Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for ACAA2 Gene
mRNA expression by BioGPS for ACAA2 GenemRNA expression by GTEx 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, PaxDb, 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:

ACAA2

SOURCE GeneReport for Unigene cluster for ACAA2 Gene:

Hs.200136

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

Primer Products

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
chimpanzee
(Pan troglodytes)
 Mammalia ACAA2 34 35
  • 99.75 (n)
cow
(Bos Taurus)
 Mammalia ACAA2 34 35
  • 89.17 (n)
oppossum
(Monodelphis domestica)
 Mammalia ACAA2 35
  • 85 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Acaa2 34
  • 83.71 (n)
mouse
(Mus musculus)
 Mammalia Acaa2 34 16 35
  • 83.63 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ACAA2 35
  • 83 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia ACAA2 35
  • 65 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ACAA2 34 35
  • 74.81 (n)
lizard
(Anolis carolinensis)
 Reptilia ACAA2 35
  • 70 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia acaa2 34
  • 70.04 (n)
Str.8304 34
African clawed frog
(Xenopus laevis)
 Amphibia acaa2-prov 34
zebrafish
(Danio rerio)
 Actinopterygii acaa2 34 35
  • 69.7 (n)
Dr.5520 34
fruit fly
(Drosophila melanogaster)
 Insecta yip2 36 34 35
  • 57.87 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP006821 34
  • 56.09 (n)
worm
(Caenorhabditis elegans)
 Secernentea F53A2.7 35 34 36
  • 58.83 (n)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes ERG10 35
  • 37 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.5120 35
  • 61 (a)
 OneToOne
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.1112 34
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

ENSEMBL:
Gene Tree for ACAA2 (if available)
TreeFam:
Gene Tree for ACAA2 (if available)

Paralogs for ACAA2 Gene

Paralogs for ACAA2 Gene

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

Pseudogenes.org 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 Sequence Context AA Info Type
rs1000049115 -- 49,801,380(+) GAATA(A/C/T)ATGCT intron-variant
rs1000106961 -- 49,807,584(+) CCCAG(A/C)ATTTT intron-variant
rs1000116033 -- 49,802,710(+) AATCA(C/T)ACTGT reference, missense
rs1000216044 -- 49,806,615(+) TTAAT(C/G)CACAT intron-variant
rs1000221073 -- 49,807,256(+) TGGGC(A/G)TAGTG 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)

Relevant External Links for ACAA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACAA2

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

Disorders for ACAA2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ACAA2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
ketothiolase deficiency
  • alpha-methylacetoaceticaciduria
- elite association - COSMIC cancer census association via MalaCards
Search ACAA2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ACAA2

Genetic Association Database (GAD)
ACAA2
Human Genome Epidemiology (HuGE) Navigator
ACAA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACAA2
genes like me logo Genes that share disorders with ACAA2: view

No data available for 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. (Biochim. Biophys. Acta 2008) 3 4 22 64
  2. Cloning and sequence analysis of a full length cDNA encoding human mitochondrial 3-oxoacyl-CoA thiolase. (PMID: 8241273) Abe H. … Niimi H. (Biochim. Biophys. Acta 1993) 2 3 4 64
  3. 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 P.W. (Diabetologia 2010) 3 46 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  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. (Nat. Genet. 2008) 3 46 64

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