ACOX2 acyl-CoA oxidase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACOX2provided by HGNC
Official Full Name: acyl-CoA oxidase 2provided by HGNC
Primary source: HGNC:HGNC:120
See related: Ensembl:ENSG00000168306 MIM:601641; AllianceGenome:HGNC:120
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: BCOX; BRCOX; CBAS6; THCCox; BRCACOX
Summary: The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe cognitive disability, and death in children. [provided by RefSeq, Mar 2009]
Expression: Broad expression in liver (RPKM 44.4), kidney (RPKM 24.1) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p14.3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (58505136..58537190, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (58545514..58577544, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (58490863..58522917, complement)

Chromosome 3 - NC_000003.12 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 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?

ACOX2 is a prognostic marker and impedes the progression of hepatocellular carcinoma via PPARalpha pathway.
Title: ACOX2 is a prognostic marker and impedes the progression of hepatocellular carcinoma via PPARα pathway.
ACOX2, physiologically responsible for one of the stages in the degradation of branched-chain fatty acids and bile acid, may be a possible genetic risk factor linking Preeclampsia and Related Cardiovascular diseases.
Title: Preeclampsia and Related Cardiovascular Risk: Common Genetic Background.
We have identified by the first time in a young patient and his only sister a familiar genetic defect of an enzyme called ACOX2, which participates in the transformation of cholesterol into bile acids as a cause of increased serum transaminases in the absence of any other symptomatology.
Title: ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia.
Results found an ACOX2 variant present in a subset of human breast cancers and associated with improved outcome ER+ tumors suggesting it as a potential novel therapeutic biomarker in ER+ breast tumors.
Title: Expression of an estrogen-regulated variant transcript of the peroxisomal branched chain fatty acid oxidase ACOX2 in breast carcinomas.
Our results suggest that downregulation of ACOX2 is a shared risk factor for PE and CVD.
Title: Identification of ACOX2 as a shared genetic risk factor for preeclampsia and cardiovascular disease.
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.

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

Associated conditions

Description	Tests
Congenital bile acid synthesis defect 6 MedGen: C4310624 OMIM: 617308 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-33100 (e-PCR)
- UniSTS:75871

RH71302 (e-PCR)
- UniSTS:51389

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity	ISS Inferred from Sequence or Structural Similarity more info
enables FAD binding	IEA Inferred from Electronic Annotation more info
enables fatty acid binding	IBA Inferred from Biological aspect of Ancestor more info
enables flavin adenine dinucleotide binding	IBA Inferred from Biological aspect of Ancestor more info
enables flavin adenine dinucleotide binding	ISS Inferred from Sequence or Structural Similarity more info
enables palmitoyl-CoA oxidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in bile acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid beta-oxidation using acyl-CoA oxidase	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid beta-oxidation using acyl-CoA oxidase	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid beta-oxidation using acyl-CoA oxidase	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in very long-chain fatty acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in peroxisomal matrix	TAS Traceable Author Statement more info
is_active_in peroxisome	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisome	IMP Inferred from Mutant Phenotype more info	PubMed
located_in peroxisome	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: peroxisomal acyl-coenzyme A oxidase 2

Names: 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase; 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidase; THCA-CoA oxidase; acyl-CoA oxidase 2, branched chain; acyl-Coenzyme A oxidase 2, branched chain; branched chain acyl-CoA oxidase; peroxisomal branched chain acyl-CoA oxidase; trihydroxycoprostanoyl-CoA oxidase

NP_003491.1

EC 1.17.99.3

XP_005265562.1

EC 1.17.99.3

XP_006713403.1

EC 1.17.99.3

XP_047304998.1

EC 1.17.99.3

XP_054204027.1

EC 1.17.99.3

XP_054204028.1

EC 1.17.99.3

XP_054204029.1

EC 1.17.99.3

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.

Genomic

NG_052668.1 RefSeqGene

Range

5013..37067

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003500.4 → NP_003491.1 peroxisomal acyl-coenzyme A oxidase 2

See identical proteins and their annotated locations for NP_003491.1

Status: REVIEWED

Source sequence(s)

AC116036, BC047700, BG698950

Consensus CDS

CCDS33775.1

UniProtKB/Swiss-Prot

A6NF16, B2R8U5, Q99424

UniProtKB/TrEMBL

C9J0G0

Related

ENSP00000307697.5, ENST00000302819.10

Conserved Domains (1) summary

cl09933
Location:20 → 655

ACAD; Acyl-CoA dehydrogenase

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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

58505136..58537190 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005265505.2 → XP_005265562.1 peroxisomal acyl-coenzyme A oxidase 2 isoform X2

See identical proteins and their annotated locations for XP_005265562.1

UniProtKB/Swiss-Prot

A6NF16, B2R8U5, Q99424

UniProtKB/TrEMBL

C9J0G0

Conserved Domains (1) summary

cl09933
Location:20 → 655

ACAD; Acyl-CoA dehydrogenase
XM_047449042.1 → XP_047304998.1 peroxisomal acyl-coenzyme A oxidase 2 isoform X1
XM_006713340.4 → XP_006713403.1 peroxisomal acyl-coenzyme A oxidase 2 isoform X3

See identical proteins and their annotated locations for XP_006713403.1

UniProtKB/TrEMBL

C9J0G0

Conserved Domains (1) summary

cl09933
Location:23 → 557

ACAD; Acyl-CoA dehydrogenase

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

58545514..58577544 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054348052.1 → XP_054204027.1 peroxisomal acyl-coenzyme A oxidase 2 isoform X2

UniProtKB/Swiss-Prot

A6NF16, B2R8U5, Q99424
XM_054348053.1 → XP_054204028.1 peroxisomal acyl-coenzyme A oxidase 2 isoform X4
XM_054348054.1 → XP_054204029.1 peroxisomal acyl-coenzyme A oxidase 2 isoform X5

UniProtKB/TrEMBL

B4DPM1