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] See more...

Aliases for ACAA2 Gene

Aliases for ACAA2 Gene

  • Acetyl-CoA Acyltransferase 2 2 3 5
  • Mitochondrial 3-Oxoacyl-Coenzyme A Thiolase 2 3
  • 3-Ketoacyl-CoA Thiolase, Mitochondrial 3 4
  • Mitochondrial 3-Oxoacyl-CoA Thiolase 3 4
  • Acetyl-Coenzyme A Acyltransferase 2 2 3
  • Acyl-CoA Hydrolase, Mitochondrial 3 4
  • Acetyl-CoA Acetyltransferase 3 4
  • EC 2.3.1.16 4 52
  • T1 3 4
  • Acetyl-CoA Acyltransferase 4
  • Beta Ketothiolase 3
  • Beta-Ketothiolase 4
  • EC 2.3.1.9 4
  • EC 3.1.2.- 4
  • EC 3.1.2.1 4
  • EC 3.1.2.2 4
  • EC 2.3.1 52
  • 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 Alpha-Methylacetoacetic Aciduria and Ureter Transitional Cell Carcinoma. Among its related pathways are Valine, leucine and isoleucine degradation and Synthesis of bile acids and bile salts. 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 Summary for ACAA2 Gene

  • In the production of energy from fats, this is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA (Probable). Using free coenzyme A/CoA, catalyzes the thiolytic cleavage of medium- to long-chain unbranched 3-oxoacyl-CoAs into acetyl-CoA and a fatty acyl-CoA shortened by two carbon atoms (Probable). Also catalyzes the condensation of two acetyl-CoA molecules into acetoacetyl-CoA and could be involved in the production of ketone bodies (Probable). Also displays hydrolase activity on various fatty acyl-CoAs (PubMed:25478839). Thereby, could be responsible for the production of acetate in a side reaction to beta-oxidation (Probable). Abolishes BNIP3-mediated apoptosis and mitochondrial damage (PubMed:18371312).

Gene Wiki entry for ACAA2 Gene

Additional gene information for ACAA2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACAA2 Gene

Genomics for ACAA2 Gene

GeneHancer (GH) Regulatory Elements for ACAA2 Gene

Promoters and enhancers for ACAA2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACAA2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACAA2

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

Genomic Locations for ACAA2 Gene

Genomic Locations for ACAA2 Gene
chr18:49,782,164-49,813,953
(GRCh38/hg38)
Size:
31,790 bases
Orientation:
Minus strand
chr18:47,309,869-47,340,330
(GRCh37/hg19)
Size:
30,462 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 StructureGene Density

RefSeq DNA sequence for ACAA2 Gene

Proteins for ACAA2 Gene

  • 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 (PubMed:25478839). Interacts with BNIP3.

    Three dimensional structures from OCA and Proteopedia for ACAA2 Gene

neXtProt entry for ACAA2 Gene

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

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:
  • T1 (THIM_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P42765

UniProtKB/Swiss-Prot:

THIM_HUMAN :
  • Belongs to the thiolase-like superfamily. Thiolase family.
Family:
  • Belongs to the thiolase-like superfamily. 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:
In the production of energy from fats, this is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA (Probable). Using free coenzyme A/CoA, catalyzes the thiolytic cleavage of medium- to long-chain unbranched 3-oxoacyl-CoAs into acetyl-CoA and a fatty acyl-CoA shortened by two carbon atoms (Probable). Also catalyzes the condensation of two acetyl-CoA molecules into acetoacetyl-CoA and could be involved in the production of ketone bodies (Probable). Also displays hydrolase activity on various fatty acyl-CoAs (PubMed:25478839). Thereby, could be responsible for the production of acetate in a side reaction to beta-oxidation (Probable). Abolishes BNIP3-mediated apoptosis and mitochondrial damage (PubMed:18371312).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + an acyl-CoA = a 3-oxoacyl-CoA + CoA; Xref=Rhea:RHEA:21564, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:58342, ChEBI:CHEBI:90726; EC=2.3.1.16; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:21565; Evidence=. ; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:21566; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 acetyl-CoA = acetoacetyl-CoA + CoA; Xref=Rhea:RHEA:21036, ChEBI:CHEBI:57286, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288; EC=2.3.1.9; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:21037; Evidence=. ; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:21038; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + H2O = acetate + CoA + H(+); Xref=Rhea:RHEA:20289, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30089, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288; EC=3.1.2.1; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:20290; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + propanoyl-CoA = CoA + H(+) + propanoate; Xref=Rhea:RHEA:40103, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17272, ChEBI:CHEBI:57287, ChEBI:CHEBI:57392; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40104; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=butanoyl-CoA + H2O = butanoate + CoA + H(+); Xref=Rhea:RHEA:40111, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17968, ChEBI:CHEBI:57287, ChEBI:CHEBI:57371; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40112; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + hexanoyl-CoA = CoA + H(+) + hexanoate; Xref=Rhea:RHEA:40115, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17120, ChEBI:CHEBI:57287, ChEBI:CHEBI:62620; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40116; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + octanoyl-CoA = CoA + H(+) + octanoate; Xref=Rhea:RHEA:30143, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:25646, ChEBI:CHEBI:57287, ChEBI:CHEBI:57386; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:30144; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=decanoyl-CoA + H2O = CoA + decanoate + H(+); Xref=Rhea:RHEA:40059, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:27689, ChEBI:CHEBI:57287, ChEBI:CHEBI:61430; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40060; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=dodecanoyl-CoA + H2O = CoA + dodecanoate + H(+); Xref=Rhea:RHEA:30135, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:18262, ChEBI:CHEBI:57287, ChEBI:CHEBI:57375; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:30136; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + tetradecanoyl-CoA = CoA + H(+) + tetradecanoate; Xref=Rhea:RHEA:40119, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30807, ChEBI:CHEBI:57287, ChEBI:CHEBI:57385; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40120; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + hexadecanoyl-CoA = CoA + H(+) + hexadecanoate; Xref=Rhea:RHEA:16645, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379; EC=3.1.2.2; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:16646; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=9.2 uM for acetoacetyl-CoA {ECO:0000269 PubMed:25478839}; KM=250 uM for acetyl-CoA {ECO:0000269 PubMed:25478839}; KM=35 uM for octanoyl-CoA {ECO:0000269 PubMed:25478839}; Note=kcat is 14.8 sec(-1) for the degradation of acetoacetyl-CoA (3-oxoacyl-CoA thiolase) (PubMed:25478839). kcat is 1.4 sec(-1) for the synthesis of acetoacetyl-CoA (PubMed:25478839). kcat is 0.02 sec(-1) for octanoyl-CoA hydrolysis (PubMed:25478839). {ECO:0000269 PubMed:25478839};
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:0003985 acetyl-CoA C-acetyltransferase activity IDA,IBA 25478839
GO:0003986 acetyl-CoA hydrolase activity IEA --
GO:0003988 acetyl-CoA C-acyltransferase activity IBA,NAS 8241273
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

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.

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
mitochondrion 5
peroxisome 2
endoplasmic reticulum 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
lysosome 1
golgi apparatus 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 IDA,NAS 8241273
GO:0005759 mitochondrial matrix TAS --
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 beta-oxidation.

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:0071456 cellular response to hypoxia IDA 18371312
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
(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
1066-12-2
(2E)-Hexadecenoyl-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-)
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-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.
38795-33-4
genes like me logo Genes that share compounds with ACAA2: view

Transcripts for ACAA2 Gene

mRNA/cDNA for ACAA2 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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: -
SP4:

Relevant External Links for ACAA2 Gene

GeneLoc Exon Structure for
ACAA2

Expression for ACAA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.75 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACAA2 31 30
  • 89.17 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACAA2 31
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acaa2 30
  • 83.71 (n)
mouse
(Mus musculus)
Mammalia Acaa2 17 31 30
  • 83.63 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACAA2 31
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACAA2 31
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACAA2 31 30
  • 74.81 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACAA2 31
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acaa2 30
  • 70.04 (n)
Str.8304 30
African clawed frog
(Xenopus laevis)
Amphibia acaa2-prov 30
zebrafish
(Danio rerio)
Actinopterygii acaa2 31 30
  • 69.7 (n)
OneToOne
Dr.5520 30
fruit fly
(Drosophila melanogaster)
Insecta yip2 31 32 30
  • 57.87 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006821 30
  • 56.09 (n)
worm
(Caenorhabditis elegans)
Secernentea F53A2.7 31 32 30
  • 58.83 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG10 31
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5120 31
  • 61 (a)
OneToOne
Cin.1112 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1112 30
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)
Aminode:
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:

  • THIM_HUMAN
  • K7EJ68_HUMAN
  • K7EJB1_HUMAN
  • K7EME0_HUMAN
  • K7ER88_HUMAN

Pseudogenes.org Pseudogenes for ACAA2 Gene

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

Variants for ACAA2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACAA2 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
726897 Benign: not provided 49,792,313(-) A/T MISSENSE_VARIANT
rs11549285 - p.Met217Val

Additional dbSNP identifiers (rs#s) for ACAA2 Gene

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
ACAA2

SNP Genotyping and Copy Number Assay Products

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

Disorders for ACAA2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ACAA2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
alpha-methylacetoacetic aciduria
  • 2-methyl-3-hydroxybutyric acidemia
ureter transitional cell carcinoma
  • transitional cell carcinoma of ureter
dextro-looped transposition of the great arteries
  • transposition of the great arteries, dextro-looped 1
- elite association - COSMIC cancer census association via MalaCards
Search ACAA2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACAA2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Biochimica et biophysica acta 2008) 3 4 23 54
  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 54
  3. The crystal structure of human mitochondrial 3-ketoacyl-CoA thiolase (T1): insight into the reaction mechanism of its thiolase and thioesterase activities. (PMID: 25478839) Kiema TR … Wierenga RK (Acta crystallographica. Section D, Biological crystallography 2014) 3 4 54
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  5. 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 41 54

Products for ACAA2 Gene

Sources for ACAA2 Gene