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 encodin... See more...

Aliases for ACAT2 Gene

Aliases for ACAT2 Gene

  • Acetyl-CoA Acetyltransferase 2 2 3 5
  • Acetyl-CoA Acetyltransferase, Cytosolic 3 4
  • Acetyl-CoA Transferase-Like Protein 3 4
  • Cytosolic Acetoacetyl-CoA Thiolase 3 4
  • Acetoacetyl Coenzyme A Thiolase 2 3
  • EC 2.3.1.9 4 51
  • Acetyl-Coenzyme A Acetyltransferase 2 (Acetoacetyl Coenzyme A Thiolase) 2
  • Acetyl-Coenzyme A Acetyltransferase 2 2
  • EC 2.3.1 51
  • ACAT2 5
  • 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 Acetyl-Coa Acetyltransferase-2 Deficiency and Alpha-Methylacetoacetic Aciduria. Among its related pathways are Lysine degradation and Terpenoid backbone biosynthesis. Gene Ontology (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 ACAT1.

UniProtKB/Swiss-Prot Summary for ACAT2 Gene

Gene Wiki entry for ACAT2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACAT2 Gene

Genomics for ACAT2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACAT2 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 ACAT2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACAT2

Top Transcription factor binding sites by QIAGEN in the ACAT2 gene promoter:
  • AML1a
  • FOXD3
  • GR
  • GR-alpha
  • GR-beta
  • MAZR
  • MyoD
  • POU2F1
  • POU2F1a
  • STAT5B

Genomic Locations for ACAT2 Gene

Genomic Locations for ACAT2 Gene
chr6:159,762,045-159,779,112
(GRCh38/hg38)
Size:
17,068 bases
Orientation:
Plus strand
chr6:160,181,360-160,200,144
(GRCh37/hg19)
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

Selected DME Specific Peptides for ACAT2 Gene

Q9BWD1:
  • FDKEIVPV
  • GGAIALGHP
  • AGCGQNP
  • HMGITAEN
  • NASGINDGAA
  • FEINEAFA

Post-translational modifications for ACAT2 Gene

  • Ubiquitination at Lys124 and Lys235
  • Modification sites at PhosphoSitePlus

Other Protein References for ACAT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ACAT2 Gene

Gene Families for ACAT2 Gene

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

Protein Domains for ACAT2 Gene

Suggested Antigen Peptide Sequences for ACAT2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53975, highly similar to Acetyl-CoA acetyltransferase, cytosolic (EC 2.3.1.9) (B7Z233_HUMAN)
  • Cytosolic acetoacetyl-CoA thiolase (THIC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BWD1

UniProtKB/Swiss-Prot:

THIC_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 ACAT2: view

Function for ACAT2 Gene

Molecular function for ACAT2 Gene

UniProtKB/Swiss-Prot Function:
Involved in the biosynthetic pathway of cholesterol.
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={ECO:0000255|PROSITE-ProRule:PRU10020, ECO:0000269|PubMed:7911016};.
GENATLAS Biochemistry:
acetoacetyl-CoA thiolase 2,cytosolic,overlapping in opposite orientation,the 3' region of t complex 1 (TCP1)

Enzyme Numbers (IUBMB) for ACAT2 Gene

Phenotypes From GWAS Catalog for ACAT2 Gene

Gene Ontology (GO) - Molecular Function for ACAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003985 acetyl-CoA C-acetyltransferase activity IBA,IDA 7911016
GO:0003988 acetyl-CoA C-acyltransferase activity IBA 21873635
GO:0005515 protein binding IPI 21044950
GO:0016740 transferase activity 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 Models for ACAT2 Gene

MGI Knock Outs for ACAT2:
  • Acat2 Acat2<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for ACAT2 Gene

miRTarBase miRNAs that target ACAT2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACAT2

No data available for Transcription Factor Targets and HOMER Transcription for ACAT2 Gene

Localization for ACAT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACAT2 Gene

Cytoplasm, cytosol.

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 ACAT2 gene
Compartment Confidence
cytosol 5
extracellular 4
mitochondrion 4
nucleus 4
peroxisome 3
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm TAS,IDA 7911016
GO:0005739 mitochondrion IBA 21873635
GO:0005829 cytosol TAS --
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

UniProtKB/Swiss-Prot Q9BWD1-THIC_HUMAN

  • Pathway: Lipid metabolism; fatty acid metabolism.

Gene Ontology (GO) - Biological Process for ACAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IC 7911016
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation IBA 21873635
GO:0006695 cholesterol biosynthetic process TAS --
genes like me logo Genes that share ontologies with ACAT2: view

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 Investigational Nutra Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
72-89-9
3-Oxohexanoyl-CoA
  • 3-Ketohexanoyl coa.
  • 3-Ketohexanoyl coenzyme A.
  • 3-Oxohexanoyl-coenzyme A
  • Ketohexanoyl-CoA
  • Ketohexanoyl-coenzyme A
19774-86-8
Butyryl-CoA
  • Butanoyl-CoA
  • Butanoyl-coenzyme A
  • 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

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACAT2

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

Expression for ACAT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ACAT2 Gene



Protein tissue co-expression partners for ACAT2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACAT2

SOURCE GeneReport for Unigene cluster for ACAT2 Gene:

Hs.571037

Evidence on tissue expression from TISSUES for ACAT2 Gene

  • Nervous system(4.9)
  • Lung(4.7)
  • Liver(4.6)
  • Kidney(4.5)
  • Skin(3.1)
  • Intestine(2.7)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACAT2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns with ACAT2: view

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
Chimpanzee
(Pan troglodytes)
Mammalia ACAT2 30 31
  • 99.5 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ACAT2 30 31
  • 89.14 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACAT2 30 31
  • 88.8 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Acat2 30 17 31
  • 86.11 (n)
OneToMany
Acat3 17 31
  • 86 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Acat2 30
  • 85.02 (n)
Oppossum
(Monodelphis domestica)
Mammalia ACAT2 31
  • 81 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ACAT2 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ACAT2 30 31
  • 73.13 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ACAT2 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia acat2 30
  • 69.87 (n)
MGC76038 30
African clawed frog
(Xenopus laevis)
Amphibia ACAT2 30
Zebrafish
(Danio rerio)
Actinopterygii acat2 30 31
  • 68.62 (n)
OneToOne
-- 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.356 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001318 30
  • 56.74 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG9149 30 31 32
  • 55.81 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG10 31
  • 42 (a)
OneToMany
Species where no ortholog for ACAT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ACAT2: view image

Paralogs for ACAT2 Gene

Paralogs for ACAT2 Gene

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

  • THIC_HUMAN
  • B7Z233_HUMAN
genes like me logo Genes that share paralogs with ACAT2: view

Variants for ACAT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACAT2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
719956 Likely Benign: not provided 159,768,591(+) T/G SYNONYMOUS_VARIANT
723705 Likely Benign: not provided 159,768,609(+) C/T SYNONYMOUS_VARIANT
726396 Likely Benign: not provided 159,778,654(+) G/A THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
748067 Likely Benign: not provided 159,776,157(+) T/C SYNONYMOUS_VARIANT
750410 Likely Benign: not provided 159,762,730(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ACAT2 Gene

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

Variant ID Type Subtype PubMed ID
esv2759483 CNV gain 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)

Additional Variant Information for ACAT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACAT2

SNP Genotyping and Copy Number Assay Products

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

Disorders for ACAT2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ACAT2 Gene - From: OMIM, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
acetyl-coa acetyltransferase-2 deficiency
  • acat2d
alpha-methylacetoacetic aciduria
  • 2-methyl-3-hydroxybutyric acidemia
schimmelpenning-feuerstein-mims syndrome
  • sfm
- elite association - COSMIC cancer census association via MalaCards
Search ACAT2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACAT2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 RK (Journal of molecular biology 2005) 3 4 23
  2. Molecular cloning and nucleotide sequence of complementary DNA for human hepatic cytosolic acetoacetyl-coenzyme A thiolase. (PMID: 7911016) Song XQ … Orii T (Biochemical and biophysical research communications 1994) 3 4 23
  3. Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk. (PMID: 20167577) Reynolds CA … Prince JA (Human molecular genetics 2010) 3 41
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41

Products for ACAT2 Gene

Sources for ACAT2 Gene