Description: Homo sapiens acetyl-CoA acetyltransferase 2 (ACAT2), mRNA. RefSeq Summary (NM_005891): 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]. Transcript (Including UTRs) Position: hg19 chr6:160,182,989-160,200,087 Size: 17,099 Total Exon Count: 9 Strand: + Coding Region Position: hg19 chr6:160,183,120-160,199,861 Size: 16,742 Coding Exon Count: 9
Cholesterol, HDL Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903299]
Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
Hypertension/complications* Yoshida T, , et al. 2009 May;32(5):411-8. Epub 2009 Mar 13., Association of candidate gene polymorphisms with chronic kidney disease in Japanese individuals with hypertension., 2009 May;32(5):411-8. Epub 2009 Mar 13..
[PubMed 19282863]
MalaCards Disease Associations
MalaCards Gene Search: ACAT2 Diseases sorted by gene-association score: acat2 deficiency* (50) * = Manually curated disease association
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9BWD1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
