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ACAT2 acetyl-CoA acetyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 39, updated on 4-Jan-2025

Summary

Official Symbol
ACAT2provided by HGNC
Official Full Name
acetyl-CoA acetyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:94
See related
Ensembl:ENSG00000120437 MIM:100678; AllianceGenome:HGNC:94
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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]
Annotation information
Note: ACAT2 (Gene ID: 39) and SOAT2 (Gene ID: 8435) share the ACAT2 symbol/alias in common. ACAT2 is a widely used alternative name for sterol O-acyltransferase 2 (SOAT2), which can be confused with acetyl-CoA acetyltransferase 2 (ACAT2). [20 Jun 2018]
Note: ACAT2 (GeneID 39) and SOAT2 (GeneID 8435) loci share the ACAT2 symbol/alias in common. ACAT2 is widely used alternative name for acyl-Coenzyme A: cholesterol acyltransferase 2 (SOAT2) conflicting with the official symbol for acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase) (ACAT2). [13 Feb 2013]
Expression
Ubiquitous expression in liver (RPKM 42.3), brain (RPKM 30.7) and 24 other tissues See more
Orthologs
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Genomic context

See ACAT2 in Genome Data Viewer
Location:
6q25.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (159762045..159779112)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (161007676..161024729)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (160183077..160200144)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene superoxide dismutase 2 Neighboring gene RNA, U4atac small nuclear 18, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:160147749-160148346 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:160148347-160148944 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:160154720-160154980 Neighboring gene WT1 associated protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25391 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17754 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17755 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:160184458-160184958 Neighboring gene SOD2 overlapping transcript 1 Neighboring gene small nucleolar RNA, H/ACA box 20 Neighboring gene t-complex 1 Neighboring gene small nucleolar RNA, H/ACA box 29

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Acetyl-CoA acetyltransferase-2 deficiency
MedGen: C0342735 OMIM: 614055 GeneReviews: Not available
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Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in cytoplasm PubMed 
located_in cytosol  
located_in extracellular exosome PubMed 

General protein information

Preferred Names
acetyl-CoA acetyltransferase, cytosolic
Names
acetoacetyl Coenzyme A thiolase
acetyl-CoA transferase-like protein
cytosolic acetoacetyl-CoA thiolase
NP_001290182.1
NP_005882.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023389.2 RefSeqGene

    Range
    5089..22156
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001303253.1NP_001290182.1  acetyl-CoA acetyltransferase, cytosolic isoform 2

    See identical proteins and their annotated locations for NP_001290182.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and has an alternate 5' coding region, compared to variant 1. The resulting isoform (2) is longer and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK294273
    UniProtKB/TrEMBL
    Q59GW6
    Conserved Domains (2) summary
    PRK05790
    Location:49425
    PRK05790; putative acyltransferase; Provisional
    cd00751
    Location:45425
    thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...
  2. NM_005891.3NP_005882.2  acetyl-CoA acetyltransferase, cytosolic isoform 1

    See identical proteins and their annotated locations for NP_005882.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes the shorter isoform (1).
    Source sequence(s)
    AF356877, AL135914, BM997310, BP210609
    Consensus CDS
    CCDS5268.1
    UniProtKB/Swiss-Prot
    B7Z233, E1P5B1, Q16146, Q5TCL7, Q8TDM4, Q9BWD1
    UniProtKB/TrEMBL
    A8K4W5
    Related
    ENSP00000356015.4, ENST00000367048.5
    Conserved Domains (2) summary
    PRK05790
    Location:8396
    PRK05790; putative acyltransferase; Provisional
    cd00751
    Location:9396
    thiolase; Thiolase are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. They are found in prokaryotes and ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    159762045..159779112
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    161007676..161024729
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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