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Aliases for ACAT2 Gene

Aliases for ACAT2 Gene

  • Acetyl-CoA Acetyltransferase 2 2 3 5
  • EC 2.3.1.9 4 63
  • Acetyl-Coenzyme A Acetyltransferase 2 (Acetoacetyl Coenzyme A Thiolase) 2
  • Acetyl-Coenzyme A Acetyltransferase 2 2
  • Acetyl-CoA Transferase-Like Protein 4
  • Cytosolic Acetoacetyl-CoA Thiolase 4
  • Acetoacetyl Coenzyme A Thiolase 2
  • EC 2.3.1 63
  • ACTL 4

External Ids for ACAT2 Gene

Previous GeneCards Identifiers for ACAT2 Gene

  • GC06P159622
  • GC06P160056
  • GC06P160015
  • GC06P160092
  • GC06P160153
  • GC06P157652
  • GC06P160182

Summaries for ACAT2 Gene

Entrez Gene Summary for ACAT2 Gene

  • The product of this gene is an enzyme involved in lipid metabolism, and it encodes cytosolic acetoacetyl-CoA thiolase. This gene shows complementary overlapping with the 3-prime region of the TCP1 gene in both mouse and human. These genes are encoded on opposite strands of DNA, as well as in opposite transcriptional orientation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]

GeneCards Summary for ACAT2 Gene

ACAT2 (Acetyl-CoA Acetyltransferase 2) is a Protein Coding gene. Diseases associated with ACAT2 include acat2 deficiency. Among its related pathways are Butanoate metabolism and Carbon metabolism. GO annotations related to this gene include transferase activity, transferring acyl groups other than amino-acyl groups and acetyl-CoA C-acetyltransferase activity. An important paralog of this gene is ACAA2.

Gene Wiki entry for ACAT2 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACAT2 Gene

Genomics for ACAT2 Gene

Regulatory Elements for ACAT2 Gene

Enhancers for ACAT2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ACAT2 on UCSC Golden Path with GeneCards custom track

Promoters for ACAT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACAT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ACAT2 Gene

Chromosome:
6
Start:
159,760,328 bp from pter
End:
159,779,112 bp from pter
Size:
18,785 bases
Orientation:
Plus strand

Genomic View for ACAT2 Gene

Genes around ACAT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACAT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACAT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACAT2 Gene

Proteins for ACAT2 Gene

  • Protein details for ACAT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BWD1-THIC_HUMAN
    Recommended name:
    Acetyl-CoA acetyltransferase, cytosolic
    Protein Accession:
    Q9BWD1
    Secondary Accessions:
    • B7Z233
    • E1P5B1
    • Q16146
    • Q5TCL7
    • Q8TDM4

    Protein attributes for ACAT2 Gene

    Size:
    397 amino acids
    Molecular mass:
    41351 Da
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for ACAT2 Gene

    Alternative splice isoforms for ACAT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACAT2 Gene

Proteomics data for ACAT2 Gene at MOPED

Selected DME Specific Peptides for ACAT2 Gene

Post-translational modifications for ACAT2 Gene

  • Ubiquitination at Lys 124
  • Modification sites at PhosphoSitePlus

Other Protein References for ACAT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ACAT2 (ACAT2)

Domains & Families for ACAT2 Gene

Protein Domains for ACAT2 Gene

Suggested Antigen Peptide Sequences for ACAT2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BWD1

UniProtKB/Swiss-Prot:

THIC_HUMAN :
  • Belongs to the thiolase family.
Family:
  • Belongs to the thiolase family.
genes like me logo Genes that share domains with ACAT2: view

No data available for Gene Families for ACAT2 Gene

Function for ACAT2 Gene

Molecular function for ACAT2 Gene

GENATLAS Biochemistry:
acetoacetyl-CoA thiolase 2,cytosolic,overlapping in opposite orientation,the 3 region of t complex 1 (TCP1)
UniProtKB/Swiss-Prot CatalyticActivity:
2 acetyl-CoA = CoA + acetoacetyl-CoA.

Enzyme Numbers (IUBMB) for ACAT2 Gene

Gene Ontology (GO) - Molecular Function for ACAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups IEA --
genes like me logo Genes that share ontologies with ACAT2: view
genes like me logo Genes that share phenotypes with ACAT2: view

Human Phenotype Ontology for ACAT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for ACAT2 Gene

miRTarBase miRNAs that target ACAT2

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ACAT2 Gene

Localization for ACAT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACAT2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACAT2 Gene COMPARTMENTS Subcellular localization image for ACAT2 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 3
peroxisome 3
mitochondrion 2
endoplasmic reticulum 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ACAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 7911016
genes like me logo Genes that share ontologies with ACAT2: view

Pathways & Interactions for ACAT2 Gene

genes like me logo Genes that share pathways with ACAT2: view

Gene Ontology (GO) - Biological Process for ACAT2 Gene

None

No data available for SIGNOR curated interactions for ACAT2 Gene

Drugs & Compounds for ACAT2 Gene

(4) Drugs for ACAT2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Hydroxycysteine Experimental Pharma Target 0
Acetoacetyl-CoA Experimental Pharma 0
Coenzyme A Nutra Target 0

(5) Additional Compounds for ACAT2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
3-Oxohexanoyl-CoA
  • 3-Ketohexanoyl CoA.
  • 3-Ketohexanoyl Coenzyme A.
  • 3-Oxohexanoyl-CoA
  • 3-Oxohexanoyl-Coenzyme A
  • Ketohexanoyl-CoA
19774-86-8
Butyryl-CoA
  • Butanoyl-CoA
  • Butanoyl-Coenzyme A
  • Butyryl-CoA
  • Butyryl-coenzyme A
2140-48-9
genes like me logo Genes that share compounds with ACAT2: view

Transcripts for ACAT2 Gene

mRNA/cDNA for ACAT2 Gene

Unigene Clusters for ACAT2 Gene

Acetyl-CoA acetyltransferase 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ACAT2 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g ^ 7 ^ 8a · 8b ^ 9
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - -
SP4: - - -
SP5: - - -
SP6: - -
SP7: - - - -
SP8:
SP9: - - - -
SP10: -
SP11:

Relevant External Links for ACAT2 Gene

GeneLoc Exon Structure for
ACAT2
ECgene alternative splicing isoforms for
ACAT2

Expression for ACAT2 Gene

mRNA expression in normal human tissues for ACAT2 Gene

Protein differential expression in normal tissues from HIPED for ACAT2 Gene

This gene is overexpressed in Testis (9.6), Fetal testis (9.4), Fetal Liver (7.4), and Liver, secretome (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ACAT2 Gene



SOURCE GeneReport for Unigene cluster for ACAT2 Gene Hs.571037

genes like me logo Genes that share expression patterns with ACAT2: view

Protein tissue co-expression partners for ACAT2 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ACAT2 Gene

Orthologs for ACAT2 Gene

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

Orthologs for ACAT2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ACAT2 35
  • 88.8 (n)
  • 89.9 (a)
ACAT2 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACAT2 35
  • 89.14 (n)
  • 90.15 (a)
ACAT2 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acat2 35
  • 86.11 (n)
  • 87.88 (a)
Acat3 16
Acat2 36
  • 88 (a)
OneToMany
Acat3 36
  • 86 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia ACAT2 35
  • 99.5 (n)
  • 99.24 (a)
ACAT2 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acat2 35
  • 85.02 (n)
  • 87.37 (a)
oppossum
(Monodelphis domestica)
Mammalia ACAT2 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACAT2 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACAT2 35
  • 73.13 (n)
  • 74.49 (a)
ACAT2 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACAT2 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acat2 35
  • 69.87 (n)
  • 73.48 (a)
MGC76038 35
African clawed frog
(Xenopus laevis)
Amphibia ACAT2 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
acat2 35
  • 68.62 (n)
  • 71.76 (a)
acat2 36
  • 72 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.356 35
fruit fly
(Drosophila melanogaster)
Insecta CG9149 37
  • 52 (a)
CG9149 35
  • 55.81 (n)
  • 58.14 (a)
CG9149 36
  • 57 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001318 35
  • 56.74 (n)
  • 58.03 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG10 36
  • 42 (a)
OneToMany
Species with no ortholog for ACAT2:
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ACAT2 Gene

ENSEMBL:
Gene Tree for ACAT2 (if available)
TreeFam:
Gene Tree for ACAT2 (if available)

Paralogs for ACAT2 Gene

Paralogs for ACAT2 Gene

(4) SIMAP similar genes for ACAT2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ACAT2: view

Variants for ACAT2 Gene

Sequence variations from dbSNP and Humsavar for ACAT2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs25683 - 159,775,311(+) TAGAA(A/G)AGGTG reference, missense
rs1133785 -- 159,772,682(+) gctac(C/T)aggga intron-variant
rs6905133 -- 159,771,150(+) GTCAA(C/T)GCAGG intron-variant
rs3464 -- 159,777,327(+) GCTGT(C/T)GTTCT reference, synonymous-codon
rs3465 -- 159,777,363(+) CGTGG(A/G)CTTAC reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for ACAT2 Gene

Variant ID Type Subtype PubMed ID
dgv2023e1 CNV Complex 17122850
nsv5563 CNV Insertion 18451855

Variation tolerance for ACAT2 Gene

Residual Variation Intolerance Score: 26.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.60; 93.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACAT2 Gene

HapMap Linkage Disequilibrium report
ACAT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACAT2 Gene

Disorders for ACAT2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ACAT2 Gene - From: OMIM

Disorder Aliases PubMed IDs
acat2 deficiency
  • cytosolic acetoacetyl-coa thiolase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search ACAT2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ACAT2

Genetic Association Database (GAD)
ACAT2
Human Genome Epidemiology (HuGE) Navigator
ACAT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACAT2
genes like me logo Genes that share disorders with ACAT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACAT2 Gene

Publications for ACAT2 Gene

  1. High resolution crystal structures of human cytosolic thiolase (CT): a comparison of the active sites of human CT, bacterial thiolase, and bacterial KAS I. (PMID: 15733928) Kursula P. … Wierenga R.K. (J. Mol. Biol. 2005) 3 4 23 67
  2. Two human ACAT2 mRNA variants produced by alternative splicing and coding for novel isoenzymes. (PMID: 16331323) Yao X.M. … Li B.L. (Acta Biochim. Biophys. Sin. (Shanghai) 2005) 3 23
  3. Assignment of the human cytosolic acetoacetyl-coenzyme A thiolase (ACAT2) gene to chromosome 6q25.3-q26. (PMID: 8812443) Masuno M. … Kuroki Y. (Genomics 1996) 3 23
  4. Molecular cloning and nucleotide sequence of complementary DNA for human hepatic cytosolic acetoacetyl-coenzyme A thiolase. (PMID: 7911016) Song X.-Q. … Orii T. (Biochem. Biophys. Res. Commun. 1994) 3 23
  5. Transcript encoded on the opposite strand of the human steroid 21- hydroxylase/complement component C4 gene locus. (PMID: 2475872) Morel Y. … Miller W.L. (Proc. Natl. Acad. Sci. U.S.A. 1989) 2 3

Products for ACAT2 Gene

Sources for ACAT2 Gene

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