ACOX2
Peroxisomal acyl-coenzyme A oxidase 2
Also known as: ACOX2_HUMAN, BRCACOX, BRCOX, THCCox
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q99424
- Gene
- ACOX2
- Ensembl
- ENSG00000168306
- Chromosome
- 3
- Canonical length
- 681 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Vesicles,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
681 residues, UniProt reviewed canonical sequence.
>Q99424|ACOX2
1 MGSPVHRVSL GDTWSRQMHP DIESERYMQS FDVERLTNIL DGGAQNTALR RKVESIIHSY
61 PEFSCKDNYF MTQNERYKAA MRRAFHIRLI ARRLGWLEDG RELGYAYRAL SGDVALNIHR
121 VFVRALRSLG SEEQIAKWDP LCKNIQIIAT YAQTELGHGT YLQGLETEAT YDAATQEFVI
181 HSPTLTATKW WPGDLGRSAT HALVQAQLIC SGARRGMHAF IVPIRSLQDH TPLPGIIIGD
241 IGPKMDFDQT DNGFLQLNHV RVPRENMLSR FAQVLPDGTY VKLGTAQSNY LPMVVVRVEL
301 LSGEILPILQ KACVIAMRYS VIRRQSRLRP SDPEAKVLDY QTQQQKLFPQ LAISYAFHFL
361 AVSLLEFFQH SYTAILNQDF SFLPELHALS TGMKAMMSEF CTQGAEMCRR ACGGHGYSKL
421 SGLPSLVTKL SASCTYEGEN TVLYLQVARF LVKSYLQTQM SPGSTPQRSL SPSVAYLTAP
481 DLARCPAQRA ADFLCPELYT TAWAHVAVRL IKDSVQHLQT LTQSGADQHE AWNQTTVIHL
541 QAAKVHCYYV TVKGFTEALE KLENEPAIQQ VLKRLCDLHA IHGILTNSGD FLHDAFLSGA
601 QVDMARTAYL DLLRLIRKDA ILLTDAFDFT DQCLNSALGC YDGNVYERLF QWAQKSPTNT
661 QENPAYEEYI RPLLQSWRSK LLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ACOX2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.23
- Highest tissue expression
- 166 nTPM
Expression across tissuesHPA
Tissue
- liver: 166 nTPM
- kidney: 39 nTPM
- duodenum: 24 nTPM
- small intestine: 20 nTPM
- choroid plexus: 20 nTPM
- tongue: 16 nTPM
Single-cell type
- hepatocytes: 123 nCPM
- enterocytes: 39 nCPM
- medullary thymic epithelial cells: 38 nCPM
- adipocytes: 37 nCPM
- choroid plexus epithelial cells: 35 nCPM
- proximal tubule cells: 31 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- choroid plexus: 31 nTPM
- medulla oblongata: 6.6 nTPM
- midbrain: 5.5 nTPM
- thalamus: 5.5 nTPM
- spinal cord: 5 nTPM
- basal ganglia: 4.8 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ACOX2.
Disease | AllUniProt
Conditions ACOX2 is implicated in, by any mechanism.
- Congenital bile acid synthesis defect 6 (CBAS6) MIM:617308
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 337 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Congenital bile acid synthesis defect 6
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.87
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.5
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- bile acid biosynthetic process
- fatty acid beta-oxidation using acyl-CoA oxidase
- very long-chain fatty acid metabolic process
Molecular functions
- acyl-CoA oxidase activity
- FAD binding
- fatty acid binding
- flavin adenine dinucleotide binding
- protein homodimerization activity
- 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Acyl-CoA oxidase, C-terminal
- Acyl-CoA dehydrogenase/oxidase, N-terminal and middle domain superfamily
- Acyl-CoA oxidase
- Acyl-coenzyme A oxidase, N-terminal
- Acyl-CoA dehydrogenase-like, C-terminal
- Acyl-CoA dehydrogenase/oxidase, N-terminal domain superfamily
- Acyl-CoA oxidase/dehydrogenase, middle domain superfamily
- Acyl-CoA oxidase, C-alpha1 domain
- Acyl-CoA oxidase
- Acyl-coenzyme A oxidase N-terminal
- Acyl-CoA oxidase, C-alpha1 domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ACOX2 as an antibody target. Whether an autoantibody or antibody against ACOX2 could matter depends on whether native ACOX2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ACOX2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ACOX2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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