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

Gene ID: 8309, updated on 21-Dec-2019

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
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

Genomic context

See ACOX2 in Genome Data Viewer
Location:
3p14.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (58505136..58537196, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (58490863..58522929, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986092 Neighboring gene potassium channel tetramerization domain containing 6 Neighboring gene ribosomal protein L27 pseudogene 9 Neighboring gene uncharacterized LOC107984079 Neighboring gene family with sequence similarity 107 member A Neighboring gene FAM3D antisense RNA 1 Neighboring gene FAM3 metabolism regulating signaling molecule D Neighboring gene uncharacterized LOC105377109

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
FAD binding IEA
Inferred from Electronic Annotation
more info
 
acyl-CoA oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
flavin adenine dinucleotide binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
flavin adenine dinucleotide binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
bile acid biosynthetic process TAS
Traceable Author Statement
more info
 
fatty acid beta-oxidation using acyl-CoA oxidase IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid beta-oxidation using acyl-CoA oxidase IDA
Inferred from Direct Assay
more info
PubMed 
fatty acid beta-oxidation using acyl-CoA oxidase IMP
Inferred from Mutant Phenotype
more info
PubMed 
fatty acid beta-oxidation using acyl-CoA oxidase TAS
Traceable Author Statement
more info
 
lipid homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of cell death IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of response to oxidative stress IDA
Inferred from Direct Assay
more info
PubMed 
protein targeting to peroxisome TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
peroxisomal matrix TAS
Traceable Author Statement
more info
 
peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
peroxisome IMP
Inferred from Mutant Phenotype
more info
PubMed 
peroxisome ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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
XP_005265562.1
XP_006713403.1
XP_016862791.1
XP_024309554.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_052668.1 RefSeqGene

    Range
    5013..37067
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003500.4NP_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
    Q99424
    Related
    ENSP00000307697.5, ENST00000302819.10
    Conserved Domains (1) summary
    cl09933
    Location:20655
    ACAD; Acyl-CoA dehydrogenase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    58505136..58537196 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453786.1XP_024309554.1  peroxisomal acyl-coenzyme A oxidase 2 isoform X2

    Conserved Domains (1) summary
    cl09933
    Location:1585
    ACAD; Acyl-CoA dehydrogenase
  2. XM_017007302.2XP_016862791.1  peroxisomal acyl-coenzyme A oxidase 2 isoform X2

    Conserved Domains (1) summary
    cl09933
    Location:1585
    ACAD; Acyl-CoA dehydrogenase
  3. XM_006713340.3XP_006713403.1  peroxisomal acyl-coenzyme A oxidase 2 isoform X3

    See identical proteins and their annotated locations for XP_006713403.1

    Conserved Domains (1) summary
    cl09933
    Location:23557
    ACAD; Acyl-CoA dehydrogenase
  4. XM_005265505.1XP_005265562.1  peroxisomal acyl-coenzyme A oxidase 2 isoform X1

    See identical proteins and their annotated locations for XP_005265562.1

    UniProtKB/Swiss-Prot
    Q99424
    Conserved Domains (1) summary
    cl09933
    Location:20655
    ACAD; Acyl-CoA dehydrogenase
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