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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 61
  • 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 61
  • 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 Metabolism and superpathway of tryptophan utilization. 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.

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 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
GH06F159725 1.2 ENCODE 11.9 -32.1 -32064 5.4 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 MRPL18 PNLDC1 IGF2R ACAT2 SOD2 SNORA29 TCP1 SNORA20 LOC729603 WTAP
GH06F159699 1.2 Ensembl ENCODE 11.4 -59.3 -59344 3.5 YY1 FOS SP3 REST TSHZ1 ZNF518A ZNF623 SMARCA4 MYNN STAT3 MRPL18 WTAP PNLDC1 SOD2 ACAT2 SNORA29 TCP1 GC06M159698 GC06M159668 PIR54448
GH06F159690 1.1 ENCODE 11.8 -66.9 -66929 5.8 HDGF PKNOX1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 MRPL18 WTAP PNLDC1 SOD2 ACAT2 SNORA29 TCP1 SNORA20 ENSG00000237927 GC06M159698
GH06F159805 1.1 Ensembl ENCODE 10.3 +46.2 46240 2.8 HDAC1 FEZF1 GATA4 ZNF366 SCRT2 FOS THAP11 JUNB CEBPB ZNF843 MRPL18 SNORA29 SNORA20 ACAT2 PNLDC1 PIR41853 GC06P159828
GH06F159834 0.9 Ensembl 10.7 +73.8 73773 0.2 ELF3 MLX ARID4B SIN3A RAD21 RARA SCRT2 FOS NFYC MXD4 PNLDC1 TCP1 MRPL18 SNORA29 ACAT2 GC06P159838 GC06P159828 PIR41853
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00001232438 1772 1801 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

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

Selected DME Specific Peptides for ACAT2 Gene

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

Post-translational modifications for ACAT2 Gene

  • Ubiquitination at Lys 124
  • Modification sites at PhosphoSitePlus

Other Protein References for ACAT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

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:0003985 acetyl-CoA C-acetyltransferase activity IDA 7911016
GO:0005515 protein binding IPI 21044950
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
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
extracellular 5
nucleus 5
cytosol 5
mitochondrion 4
peroxisome 3
plasma membrane 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ACAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA,TAS 7911016
GO:0005739 mitochondrion IBA --
GO:0070062 extracellular exosome IDA 23533145
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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IC 7911016
GO:0006635 fatty acid beta-oxidation IBA --
GO:0008152 metabolic process IEA --
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 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

Unigene Clusters for ACAT2 Gene

Acetyl-CoA acetyltransferase 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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, PaxDb, MaxQB, and MOPED for ACAT2 Gene



Protein tissue co-expression partners for ACAT2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ACAT2 Gene:

ACAT2

SOURCE GeneReport for Unigene cluster for ACAT2 Gene:

Hs.571037
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 34 35
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia ACAT2 34 35
  • 89.14 (n)
cow
(Bos Taurus)
Mammalia ACAT2 35 34
  • 88.8 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Acat2 35 34
  • 86.11 (n)
OneToMany
Acat3 16 35
  • 86 (a)
rat
(Rattus norvegicus)
Mammalia Acat2 34
  • 85.02 (n)
oppossum
(Monodelphis domestica)
Mammalia ACAT2 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACAT2 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACAT2 34 35
  • 73.13 (n)
lizard
(Anolis carolinensis)
Reptilia ACAT2 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acat2 34
  • 69.87 (n)
MGC76038 34
African clawed frog
(Xenopus laevis)
Amphibia ACAT2 34
zebrafish
(Danio rerio)
Actinopterygii acat2 34 35
  • 68.62 (n)
-- 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.356 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001318 34
  • 56.74 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9149 36 34 35
  • 55.81 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG10 35
  • 42 (a)
OneToMany
Species where no ortholog for ACAT2 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)
  • 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
rs1062659 -- 159,779,053(-) CCCTT(A/T)ATGAT reference, missense, utr-variant-3-prime
rs1062660 -- 159,779,052(-) CCTTA(A/G/T)TGATT reference, missense, utr-variant-3-prime
rs10945632 -- 159,771,249(+) GTGGC(A/G)CATGC intron-variant
rs10945633 -- 159,778,423(+) AAGGT(A/T)TAAAA intron-variant, downstream-variant-500B
rs10945634 -- 159,778,424(+) AGGTT(A/T)AAAAA intron-variant, downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
nsv5563 CNV insertion 18451855
esv2759483 CNV gain 17122850

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 22 64
  2. 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 4 22 64
  3. Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk. (PMID: 20167577) Reynolds C.A. … Prince J.A. (Hum. Mol. Genet. 2010) 3 46 64
  4. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PMID: 20602615) RuaA+o G. … Wu A.H. (Pharmacogenomics 2010) 3 46 64
  5. 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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for ACAT2 Gene

Sources for ACAT2 Gene

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