• Gene id: 8309

Gene Summary

• Gene Symbol: ACOX2   Gene   UCSC   Ensembl
• Aliases: BCOX, BRCACOX, BRCOX, CBAS6, THCCox
• Gene name: acyl-CoA oxidase 2
• Alternate names: peroxisomal acyl-coenzyme A oxidase 2, 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 oxidas,
• Gene location: 3p14.3 (58537195: 58505135)     Exons: 15     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 603089

Protein Summary

• Protein general information: Q99424  
  • Name: Peroxisomal acyl coenzyme A oxidase 2 (EC 1.17.99.3) (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) (Trihydroxycoprostanoyl CoA oxidase) (THCA CoA oxidase)
  • Length: 681  
  • Mass: 76827
  • Tissue specificity: Present in all tissues tested
• Sequence:

  MGSPVHRVSLGDTWSRQMHPDIESERYMQSFDVERLTNILDGGAQNTALRRKVESIIHSYPEFSCKDNYFMTQNE
  RYKAAMRRAFHIRLIARRLGWLEDGRELGYAYRALSGDVALNIHRVFVRALRSLGSEEQIAKWDPLCKNIQIIAT
  YAQTELGHGTYLQGLETEATYDAATQEFVIHSPTLTATKWWPGDLGRSATHALVQAQLICSGARRGMHAFIVPIR
  SLQDHTPLPGIIIGDIGPKMDFDQTDNGFLQLNHVRVPRENMLSRFAQVLPDGTYVKLGTAQSNYLPMVVVRVEL
  LSGEILPILQKACVIAMRYSVIRRQSRLRPSDPEAKVLDYQTQQQKLFPQLAISYAFHFLAVSLLEFFQHSYTAI
  LNQDFSFLPELHALSTGMKAMMSEFCTQGAEMCRRACGGHGYSKLSGLPSLVTKLSASCTYEGENTVLYLQVARF
  LVKSYLQTQMSPGSTPQRSLSPSVAYLTAPDLARCPAQRAADFLCPELYTTAWAHVAVRLIKDSVQHLQTLTQSG
  ADQHEAWNQTTVIHLQAAKVHCYYVTVKGFTEALEKLENEPAIQQVLKRLCDLHAIHGILTNSGDFLHDAFLSGA
  QVDMARTAYLDLLRLIRKDAILLTDAFDFTDQCLNSALGCYDGNVYERLFQWAQKSPTNTQENPAYEEYIRPLLQ
  SWRSKL

• Structural information:
  • Interpro: IPR029320  IPR006091  IPR012258  IPR002655  IPR036250   IPR037069  IPR009100  
  • STRING: ENSP00000307697
• Other Databases: GeneCards:  ACOX2  Malacards:  ACOX2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050660	flavin adenine dinucleotide binding	IBA	molecular function
GO:0033540	fatty acid beta-oxidation using acyl-CoA oxidase	IBA	biological process
GO:0005504	fatty acid binding	IBA	molecular function
GO:0003997	acyl-CoA oxidase activity	IBA	molecular function
GO:0055088	lipid homeostasis	IBA	biological process
GO:0033791	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity	IBA	molecular function
GO:0005777	peroxisome	IBA	cellular component
GO:1902884	positive regulation of response to oxidative stress	IDA	biological process
GO:0010942	positive regulation of cell death	IDA	biological process
GO:0033540	fatty acid beta-oxidation using acyl-CoA oxidase	IDA	biological process
GO:0033791	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity	IDA	molecular function
GO:0033540	fatty acid beta-oxidation using acyl-CoA oxidase	IMP	biological process
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0050660	flavin adenine dinucleotide binding	ISS	molecular function
GO:0005777	peroxisome	IMP	cellular component
GO:0005777	peroxisome	ISS	cellular component
GO:0033791	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity	ISS	molecular function
GO:0003997	acyl-CoA oxidase activity	IEA	molecular function
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0071949	FAD binding	IEA	molecular function
GO:0005777	peroxisome	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005777	peroxisome	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0033791	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity	IEA	molecular function
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006625	protein targeting to peroxisome	TAS	biological process
GO:0006699	bile acid biosynthetic process	TAS	biological process
GO:0033540	fatty acid beta-oxidation using acyl-CoA oxidase	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005777	peroxisome	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04146	Peroxisome
hsa03320	PPAR signaling pathway
hsa00120	Primary bile acid biosynthesis

Diseases

Associated diseases	References
Congenital bile acid synthesis defect	KEGG:H00628
Congenital bile acid synthesis defect	KEGG:H00628
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq