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

Gene ID: 8309, updated on 10-Dec-2024

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
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Genomic context

See ACOX2 in Genome Data Viewer
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_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20012 Neighboring gene uncharacterized LOC107986092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14489 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58420577-58421186 Neighboring gene pyruvate dehydrogenase E1 subunit beta Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14490 Neighboring gene potassium channel tetramerization domain containing 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58506479-58506996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58512267-58512782 Neighboring gene ribosomal protein L27 pseudogene 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58516141-58516641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58517009-58517510 Neighboring gene uncharacterized LOC107984079 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58546021-58547021 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58547022-58547522 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58547523-58548023 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58548024-58549024 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58551424-58551948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58551949-58552472 Neighboring gene family with sequence similarity 107 member A Neighboring gene Sharpr-MPRA regulatory region 12039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20013 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:58602944-58603149 Neighboring gene FAM3D antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:58614585-58615086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58626158-58626658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58626659-58627159 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58634821-58635320 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

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
 
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

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_047304998.1
XP_054204027.1
XP_054204028.1
XP_054204029.1

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

  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
    A6NF16, B2R8U5, Q99424
    UniProtKB/TrEMBL
    C9J0G0
    Related
    ENSP00000307697.5, ENST00000302819.10
    Conserved Domains (1) summary
    cl09933
    Location:20655
    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

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    58505136..58537190 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265505.2XP_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:20655
    ACAD; Acyl-CoA dehydrogenase
  2. XM_047449042.1XP_047304998.1  peroxisomal acyl-coenzyme A oxidase 2 isoform X1

    UniProtKB/TrEMBL
    C9J0G0
  3. XM_006713340.4XP_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:23557
    ACAD; Acyl-CoA dehydrogenase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    58545514..58577544 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    A6NF16, B2R8U5, Q99424
    UniProtKB/TrEMBL
    C9J0G0
  2. XM_054348053.1XP_054204028.1  peroxisomal acyl-coenzyme A oxidase 2 isoform X4

    UniProtKB/TrEMBL
    C9J0G0
  3. XM_054348054.1XP_054204029.1  peroxisomal acyl-coenzyme A oxidase 2 isoform X5

    UniProtKB/TrEMBL
    B4DPM1