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

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: 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: mouse all
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Genomic context

Location:: 18q21.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (49782164..49813533, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (49981292..50015307, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (47308534..47339903, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ACAA2 is a novel molecular indicator for cancers with neuroendocrine phenotype.
Title: ACAA2 is a novel molecular indicator for cancers with neuroendocrine phenotype.
Negative correlation between acetyl-CoA acyltransferase 2 and cetuximab resistance in colorectal cancer.
Title: Negative correlation between acetyl-CoA acyltransferase 2 and cetuximab resistance in colorectal cancer.
LncRNA RPL34-AS1 suppresses the proliferation, migration and invasion of esophageal squamous cell carcinoma via targeting miR-575/ACAA2 axis.
Title: LncRNA RPL34-AS1 suppresses the proliferation, migration and invasion of esophageal squamous cell carcinoma via targeting miR-575/ACAA2 axis.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
ACAA2 is a functional BNIP3 binding partner and provide a possible linkage between fatty acid metabolism and apoptosis of cells.
Title: Acetyl-Coenzyme A acyltransferase 2 attenuates the apoptotic effects of BNIP3 in two human cell lines.

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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

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 EBI GWAS CatalogPubMed
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH39218 (e-PCR)
- UniSTS:86277

SGC30718 (e-PCR)
- UniSTS:44896

D18S1356 (e-PCR)
- UniSTS:12919

SHGC-132113 (e-PCR)
- UniSTS:170654

G35281 (e-PCR)
- UniSTS:38312

SHGC-12898 (e-PCR)
- UniSTS:49841

ACAA2 (e-PCR)
- UniSTS:504258

SHGC-57883 (e-PCR)
- UniSTS:34544

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables acetyl-CoA C-acetyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetyl-CoA C-acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables acetyl-CoA C-acyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables acetyl-CoA C-acyltransferase activity	NAS Non-traceable Author Statement more info	PubMed
enables acetyl-CoA hydrolase activity	IEA Inferred from Electronic Annotation more info
enables fatty acyl-CoA hydrolase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
involved_in fatty acid beta-oxidation	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid beta-oxidation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mitochondrial membrane permeability involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial matrix	TAS Traceable Author Statement more info
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

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Preferred Names: 3-ketoacyl-CoA thiolase, mitochondrial

Names: T1; 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

EC 2.3.1.16

EC 2.3.1.9

EC 3.1.2.1

EC 3.1.2.2

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.

mRNA and Protein(s)

NM_006111.3 → NP_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:8 → 394

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 ...