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ACOT2 acyl-CoA thioesterase 2 [ Homo sapiens (human) ]

Gene ID: 10965, updated on 11-Apr-2024

Summary

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Official Symbol
ACOT2provided by HGNC
Official Full Name
acyl-CoA thioesterase 2provided by HGNC
Primary source
HGNC:HGNC:18431
See related
Ensembl:ENSG00000119673 MIM:609972; AllianceGenome:HGNC:18431
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MTE1; PTE2; CTE1A; PTE2A; CTE-IA; ZAP128
Summary
This gene encodes a member of the acyl-CoA thioesterase protein family, and is one of four acyl-CoA hydrolase genes located in a cluster on chromosome 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
Expression
Broad expression in fat (RPKM 57.3), liver (RPKM 39.8) and 21 other tissues See more
Orthologs
all
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Genomic context

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Location:
14q24.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (73567620..73575658)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (67775130..67783167)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (74034324..74042362)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene HEAT repeat containing 4 Neighboring gene acyl-CoA thioesterase 1 Neighboring gene uncharacterized LOC124903344 Neighboring gene 5',3'-nucleotidase, cytosolic pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr14:74020474-74020986 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36531 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74033223-74033740 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:74034134-74035333 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8703 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8702 Neighboring gene 5',3'-nucleotidase, cytosolic pseudogene 1 Neighboring gene tRNA-Lys (TTT) 14-1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:74058811-74059310 Neighboring gene acyl-CoA thioesterase 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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

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Related articles in PubMed

  1. High Expression of ACOT2 Predicts Worse Overall Survival and Abnormal Lipid Metabolism: A Potential Target for Acute Myeloid Leukemia. Yin X, et al. J Healthc Eng, 2022. PMID 36193167, Free PMC Article
  2. Crystal structure of human mitochondrial acyl-CoA thioesterase (ACOT2). Mandel CR, et al. Biochem Biophys Res Commun, 2009 Aug 7. PMID 19497300, Free PMC Article
  3. Acyl-Coa Thioesterases: A Rheostat That Controls Activated Fatty Acids Modulates Dengue Virus Serotype 2 Replication. St Clair LA, et al. Viruses, 2022 Jan 25. PMID 35215835, Free PMC Article
  4. Identification of PTE2, a human peroxisomal long-chain acyl-CoA thioesterase. Jones JM, et al. Biochem Biophys Res Commun, 2000 Aug 18. PMID 10944470
  5. Molecular cloning and characterization of two mouse peroxisome proliferator-activated receptor alpha (PPARalpha)-regulated peroxisomal acyl-CoA thioesterases. Westin MA, et al. J Biol Chem, 2004 May 21. PMID 15007068

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. High Expression of ACOT2 Predicts Worse Overall Survival and Abnormal Lipid Metabolism: A Potential Target for Acute Myeloid Leukemia.
    Title: High Expression of ACOT2 Predicts Worse Overall Survival and Abnormal Lipid Metabolism: A Potential Target for Acute Myeloid Leukemia.
  2. Acyl-Coa Thioesterases: A Rheostat That Controls Activated Fatty Acids Modulates Dengue Virus Serotype 2 Replication.
    Title: Acyl-Coa Thioesterases: A Rheostat That Controls Activated Fatty Acids Modulates Dengue Virus Serotype 2 Replication.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  5. the crystal structure at 2.1A resolution of human mitochondrial ACOT2, a type I enzyme is reported.
    Title: Crystal structure of human mitochondrial acyl-CoA thioesterase (ACOT2).
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carboxylic ester hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables fatty acyl-CoA hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables fatty acyl-CoA hydrolase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in acyl-CoA metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in acyl-CoA metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in fatty acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in long-chain fatty acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in very long-chain fatty acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in peroxisomal matrix TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
acyl-coenzyme A thioesterase 2, mitochondrial
Names
acyl-coenzyme A thioester hydrolase 2a
long-chain acyl-CoA thioesterase 2
mitochondrial acyl-CoA thioesterase 1
peroxisomal long-chain acyl-coA thioesterase 2
NP_001351106.1
NP_001351107.1
NP_006812.3

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.

mRNA and Protein(s)

  1. NM_001364177.1 → NP_001351106.1  acyl-coenzyme A thioesterase 2, mitochondrial isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC005225
    UniProtKB/TrEMBL
    B3KSA0
    Conserved Domains (1) summary
    pfam08840
    Location:69 → 277
    BAAT_C; BAAT / Acyl-CoA thioester hydrolase C terminal

  2. NM_001364178.1 → NP_001351107.1  acyl-coenzyme A thioesterase 2, mitochondrial isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC005225
    Conserved Domains (2) summary
    pfam04775
    Location:78 → 198
    Bile_Hydr_Trans; Acyl-CoA thioester hydrolase/BAAT N-terminal region
    cl21494
    Location:266 → 282
    Abhydrolase; alpha/beta hydrolases

  3. NM_006821.6 → NP_006812.3  acyl-coenzyme A thioesterase 2, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_006812.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
    Source sequence(s)
    AC005225
    Consensus CDS
    CCDS9816.1
    UniProtKB/Swiss-Prot
    P49753, Q3I5F8, Q53EK4, Q9NUX4
    UniProtKB/TrEMBL
    A0A087WT95
    Related
    ENSP00000238651.5, ENST00000238651.10
    Conserved Domains (3) summary
    pfam04775
    Location:79 → 198
    Bile_Hydr_Trans; Acyl-CoA thioester hydrolase/BAAT N-terminal region
    pfam08840
    Location:266 → 474
    BAAT_C; BAAT / Acyl-CoA thioester hydrolase C terminal
    cl21494
    Location:207 → 319
    Abhydrolase; alpha/beta hydrolases

RNA

  1. NR_046028.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC005225, AI537078, AK093131
    Related
    ENST00000538782.2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    73567620..73575658
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    67775130..67783167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P49753.6 GenPept UniProtKB/Swiss-Prot:P49753

Gene LinkOut

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