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

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: all
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Genomic context

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Circ_RPL23A acts as a miR-1233 sponge to suppress the progression of clear cell renal cell carcinoma by promoting ACAT2.
Title: Circ_RPL23A acts as a miR-1233 sponge to suppress the progression of clear cell renal cell carcinoma by promoting ACAT2.
results demonstrate that the low-level expression of human ACAT2 gene with specific CpG-hypomethylated promoter is regulated by the C/EBP transcription factors in monocytic cells, and imply that the lowly expressed ACAT2 catalyzes the synthesis of certain CE/SE that are assembled into lipoproteins for the secretion
Title: Low-level expression of human ACAT2 gene in monocytic cells is regulated by the C/EBP transcription factors.
Results show that DLAT and ACAT2 as upstream acetyltransferases of K76 and K294 in 6PGD protein.
Title: Lysine acetylation activates 6-phosphogluconate dehydrogenase to promote tumor growth.
Reduced ACAT2 is associated with impaired butyrate oxidation in ulcerative colitis.
Title: Impaired butyrate oxidation in ulcerative colitis is due to decreased butyrate uptake and a defect in the oxidation pathway.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
The increased NPC1L1 and ACAT2 mRNA levels in gallstone patients might indicate an upregulated absorption and esterification of cholesterol in the small intestine.
Title: Increased NPC1L1 and ACAT2 expression in the jejunal mucosa from Chinese gallstone patients.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Data describe the high resolution structure of human cytosolic acetoacetyl-CoA thiolase (CT), both unliganded (at 2.3 angstroms resolution) and in complex with CoA (at 1.6 angstroms resolution).
Title: High resolution crystal structures of human cytosolic thiolase (CT): a comparison of the active sites of human CT, bacterial thiolase, and bacterial KAS I.

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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

Associated conditions

Description	Tests
Acetyl-CoA acetyltransferase-2 deficiency MedGen: C0342735 OMIM: 614055 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-36020 (e-PCR)
- UniSTS:22807

SHGC-37084 (e-PCR)
- UniSTS:13689

D6S1840 (e-PCR)
- UniSTS:58762

G05384 (e-PCR)
- UniSTS:46990

G43314 (e-PCR)
- UniSTS:94935

RH93477 (e-PCR)
- UniSTS:92380

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in lipid metabolic process	IC Inferred by Curator more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: acetyl-CoA acetyltransferase, cytosolic

Names: acetoacetyl Coenzyme A thiolase; acetyl-CoA transferase-like protein; cytosolic acetoacetyl-CoA thiolase

NP_001290182.1

EC 2.3.1.9

NP_005882.2

EC 2.3.1.9

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

NG_023389.2 RefSeqGene

Range

5089..22156

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001303253.1 → NP_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:49 → 425

PRK05790; putative acyltransferase; Provisional

cd00751
Location:45 → 425

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 ...
NM_005891.3 → NP_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:8 → 396

PRK05790; putative acyltransferase; Provisional

cd00751
Location:9 → 396

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 ...