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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
  • Beta-Ketothiolase 3 4
  • EC 2.3.1.16 4 63
  • T1 3 4
  • Acetyl-CoA Acyltransferase 4
  • Beta Ketothiolase 3
  • EC 2.3.1 63
  • 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 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 and mitochondrial dna depletion syndrome 12. Among its related pathways are Metabolism and Valine, leucine and isoleucine degradation. 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACAA2 Gene

Genomics for ACAA2 Gene

Regulatory Elements for ACAA2 Gene

Promoters for ACAA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACAA2 on UCSC Golden Path with GeneCards custom track

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 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. Interacts with BNIP3.

    Three dimensional structures from OCA and Proteopedia for ACAA2 Gene

neXtProt entry for ACAA2 Gene

Proteomics data for ACAA2 Gene at MOPED

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

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

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

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:0005515 protein binding IPI 18371312
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

Inhibitory RNA Products

In Situ Assay 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
Jensen Localization Image for ACAA2 Gene COMPARTMENTS Subcellular localization image for ACAA2 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 2
peroxisome 2
chloroplast 1
endoplasmic reticulum 1

No data available for Gene Ontology (GO) - Cellular Components for ACAA2 Gene

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:0006695 cholesterol biosynthetic process NAS 8241273
GO:0071456 cellular response to hypoxia IDA 18371312
GO:1902109 negative regulation of mitochondrial membrane permeability involved in apoptotic process 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

(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

Unigene Clusters for ACAA2 Gene

Acetyl-CoA acyltransferase 2:
Representative Sequences:

Inhibitory RNA 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

mRNA expression in normal human tissues 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, MOPED, and MaxQB for ACAA2 Gene



SOURCE GeneReport for Unigene cluster for ACAA2 Gene Hs.200136

genes like me logo Genes that share expression patterns with ACAA2: view

Protein tissue co-expression partners for ACAA2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia ACAA2 35
  • 89.17 (n)
  • 88.66 (a)
ACAA2 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acaa2 35
  • 83.63 (n)
  • 87.91 (a)
Acaa2 16
Acaa2 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACAA2 35
  • 99.75 (n)
  • 99.24 (a)
ACAA2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acaa2 35
  • 83.71 (n)
  • 87.41 (a)
dog
(Canis familiaris)
Mammalia ACAA2 36
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACAA2 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACAA2 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACAA2 35
  • 74.81 (n)
  • 79.35 (a)
ACAA2 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACAA2 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acaa2 35
  • 70.04 (n)
  • 75.28 (a)
Str.8304 35
African clawed frog
(Xenopus laevis)
Amphibia acaa2-prov 35
zebrafish
(Danio rerio)
Actinopterygii acaa2 35
  • 69.7 (n)
  • 77.22 (a)
Dr.5520 35
acaa2 36
  • 77 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta yip2 37
  • 52 (a)
yip2 35
  • 57.87 (n)
  • 59.64 (a)
yip2 36
  • 59 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006821 35
  • 56.09 (n)
  • 60.41 (a)
worm
(Caenorhabditis elegans)
Secernentea F53A2.7 37
  • 55 (a)
F53A2.7 35
  • 58.83 (n)
  • 56.33 (a)
F53A2.7 36
  • 55 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG10 36
  • 37 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1112 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5120 36
  • 61 (a)
OneToOne
Species with no ortholog for ACAA2:
  • 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
rs11549285 - 49,792,256(-) AGACA(A/G)TGCAG reference, missense
rs888 -- 49,783,706(-) GGTGA(C/T)ACAAA utr-variant-3-prime
rs889 -- 49,783,750(-) CCATG(C/T)CCTGC utr-variant-3-prime
rs9424 -- 49,783,594(-) GACAT(C/T)AAAAG utr-variant-3-prime
rs541590 -- 49,806,600(-) gaatt(A/G)tatta intron-variant

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

Variant ID Type Subtype PubMed ID
nsv516056 CNV Gain 19592680

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

HapMap Linkage Disequilibrium report
ACAA2

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

Disorders for ACAA2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ACAA2 Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2
  • chronic progressive external ophthalmoplegia
mitochondrial dna depletion syndrome 12
  • mitochondrial dna depletion syndrome 12, cardiomyopathic type
ketothiolase deficiency
  • beta-ketothiolase deficiency
akinetic mutism
  • coma vigilans
- 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. 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 67
  2. 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 23
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for ACAA2 Gene

Sources for ACAA2 Gene

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