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    ACAA2 acetyl-CoA acyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 10449, updated on 3-Nov-2024

    Summary

    Official Symbol
    ACAA2provided by HGNC
    Official Full Name
    acetyl-CoA acyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:83
    See related
    Ensembl:ENSG00000167315 MIM:604770; AllianceGenome:HGNC:83
    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
    Also known as
    T1; DSAEC
    Summary
    The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in liver (RPKM 207.5), kidney (RPKM 133.1) and 19 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ACAA2 in Genome Data Viewer
    Location:
    18q21.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (49782164..49813533, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (49981292..50015307, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (47308534..47339903, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47088634-47089134 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:47135425-47136624 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:47138971-47139847 Neighboring gene uncharacterized LOC105372112 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:47139848-47140723 Neighboring gene lipase G, endothelial type Neighboring gene MPRA-validated peak3145 silencer Neighboring gene uncharacterized LOC112268210 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:47185307-47185916 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:47189661-47190508 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:47190509-47191354 Neighboring gene single-strand-selective monofunctional uracil-DNA glycosylase 1 pseudogene 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:47249700-47250899 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:47252155-47252900 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:47252901-47253644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47283654-47284603 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47285800-47286402 Neighboring gene Sharpr-MPRA regulatory region 2051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9451 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47371819-47372320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47373043-47373544 Neighboring gene small Cajal body-specific RNA 17 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:47375491-47376690 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:47382468-47382968 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:47382969-47383469 Neighboring gene small nucleolar RNA host gene 22 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:47405587-47406786 Neighboring gene myosin VB Neighboring gene Sharpr-MPRA regulatory region 7262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47430620-47431120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47431121-47431621 Neighboring gene RNA, 5S ribosomal pseudogene 457

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
    EBI GWAS Catalog
    Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr enhances PPARbeta/delta-induced PDK4, carnitine palmitoyltransferase I (CPT1), and acetyl-coenzyme A acyltransferase 2 (ACAA2) mRNA expression in cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ35992, FLJ95265

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    3-ketoacyl-CoA thiolase, mitochondrial
    Names
    acetyl-CoA acetyltransferase
    acetyl-Coenzyme A acyltransferase 2
    acyl-CoA hydrolase, mitochondrial
    beta ketothiolase
    mitochondrial 3-oxoacyl-CoA thiolase
    mitochondrial 3-oxoacyl-Coenzyme A thiolase
    NP_006102.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_006111.3NP_006102.2  3-ketoacyl-CoA thiolase, mitochondrial

      See identical proteins and their annotated locations for NP_006102.2

      Status: REVIEWED

      Source sequence(s)
      AC090227, AK054673, BC001918
      Consensus CDS
      CCDS11939.1
      UniProtKB/Swiss-Prot
      P42765, Q9BUT6
      UniProtKB/TrEMBL
      B2RB23, B3KNP8
      Related
      ENSP00000285093.8, ENST00000285093.15
      Conserved Domains (1) summary
      cd00751
      Location:8394
      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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      49782164..49813533 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      49981292..50015307 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)