Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8309
Gene name	Acyl-CoA oxidase 2
Gene symbol	ACOX2
Synonyms (NCBI Gene)	BCOXBRCACOXBRCOXCBAS6THCCox
Chromosome	3
Chromosome location	3p14.3
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

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs150832314	G>A	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (8)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028915	hsa-miR-26b-5p	Microarray	19088304
MIRT763140	hsa-miR-200b	CLIP-seq
MIRT763141	hsa-miR-200c	CLIP-seq
MIRT763142	hsa-miR-429	CLIP-seq
MIRT763143	hsa-miR-452	CLIP-seq
MIRT763144	hsa-miR-4635	CLIP-seq
MIRT763145	hsa-miR-4676-3p	CLIP-seq
MIRT763146	hsa-miR-526b	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000038	Process	Very long-chain fatty acid metabolic process	IBA
GO:0003997	Function	Acyl-CoA oxidase activity	IEA
GO:0005504	Function	Fatty acid binding	IBA
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0005777	Component	Peroxisome	IBA
GO:0005777	Component	Peroxisome	IDA	2079609, 8943006
GO:0005777	Component	Peroxisome	IEA
GO:0005777	Component	Peroxisome	IMP	27884763
GO:0005777	Component	Peroxisome	ISS
GO:0005782	Component	Peroxisomal matrix	IEA
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006699	Process	Bile acid biosynthetic process	IDA	27884763
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016627	Function	Oxidoreductase activity, acting on the CH-CH group of donors	IEA
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	IBA
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	IDA	27884763
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	IEA
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	IMP	27884763
GO:0033791	Function	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity	IBA
GO:0033791	Function	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity	IDA	27884763
GO:0033791	Function	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity	IEA
GO:0033791	Function	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity	ISS
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0050660	Function	Flavin adenine dinucleotide binding	IBA
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA
GO:0050660	Function	Flavin adenine dinucleotide binding	ISS
GO:0071949	Function	FAD binding	IEA
GO:0120524	Function	Long-chain fatty acyl-CoA oxidase activity	IBA

MIM	HGNC	e!Ensembl
601641	120	ENSG00000168306

Q99424

Protein 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)

Protein function

Oxidizes the CoA esters of the bile acid intermediates di- and tri-hydroxycholestanoic acids (PubMed:27884763). Capable of oxidizing short as well as long chain 2-methyl branched fatty acids (By similarity). {ECO:0000250|UniProtKB:P07872, ECO:00

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14749	Acyl-CoA_ox_N	32 → 148	Acyl-coenzyme A oxidase N-terminal	Domain
PF02770	Acyl-CoA_dh_M	150 → 260	Acyl-CoA dehydrogenase, middle domain	Domain
PF01756	ACOX	495 → 675	Acyl-CoA oxidase	Family

Tissue specificity

TISSUE SPECIFICITY: Present in all tissues tested: heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Most abundant in heart, liver and kidney. {ECO:0000269|PubMed:8943006}.

Sequence

MGSPVHRVSLGDTWSRQMHPDIESERYMQSFDVERLTNILDGGAQNTALRRKVESIIHSY
PEFSCKDNYFMTQNERYKAAMRRAFHIRLIARRLGWLEDGRELGYAYRALSGDVALNIHR
VFVRALRSLGSEEQIAKWDPLCKNIQIIATYAQTELGHGTYLQGLETEATYDAATQEFVI
HSPTLTATKWWPGDLGRSATHALVQAQLICSGARRGMHAFIVPIRSLQDHTPLPGIIIGD
IGPKMDFDQTDNGFLQLNHVRVPRENMLSRFAQVLPDGTYVKLGTAQSNYLPMVVVRVEL
LSGEILPILQKACVIAMRYSVIRRQSRLRPSDPEAKVLDYQTQQQKLFPQLAISYAFHFL
AVSLLEFFQHSYTAILNQDFSFLPELHALSTGMKAMMSEFCTQGAEMCRRACGGHGYSKL
SGLPSLVTKLSASCTYEGENTVLYLQVARFLVKSYLQTQMSPGSTPQRSLSPSVAYLTAP
DLARCPAQRAADFLCPELYTTAWAHVAVRLIKDSVQHLQTLTQSGADQHEAWNQTTVIHL
QAAKVHCYYVTVKGFTEALEKLENEPAIQQVLKRLCDLHAIHGILTNSGDFLHDAFLSGA
QVDMARTAYLDLLRLIRKDAILLTDAFDFTDQCLNSALGCYDGNVYERLFQWAQKSPTNT
QENPAYEEYIRPLLQSWRSKL

Sequence length

681

Interactions

View interactions

	KEGG		Reactome
	Primary bile acid biosynthesis Metabolic pathways PPAR signaling pathway Peroxisome		Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol Beta-oxidation of pristanoyl-CoA Peroxisomal protein import

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital bile acid synthesis defect 6	Pathogenic	rs1057519329	RCV000416307

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ACOX2-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs144327887, rs143228600, rs770975088, rs772915511, rs112279882, rs144682871, rs371093489, rs143498606, rs538107717, rs138186508, rs142302007, rs369423956, rs201210623, rs771975232, rs148493303 View all (36 more)	RCV004752101 RCV003958422 RCV003892896 RCV003951188 RCV003933581 RCV003958601 RCV003936563 RCV003943793 RCV003420375 RCV004750839 RCV003906640 RCV003898598 RCV003926593 RCV003926596 RCV003963778 RCV004750862 RCV004750867 RCV004750879 RCV003421085 RCV003414124 RCV003402710 RCV004750931 RCV003956544 RCV004750930 RCV003984432 RCV003896593 RCV003896631 RCV003896744 RCV003894551 RCV003893939 RCV003902191 RCV003974172 RCV003982341 RCV003913906 RCV003929500 RCV003929547 RCV003949142 RCV003934634 RCV003946912 RCV003946913 RCV003971611 RCV003954859 RCV003957892 RCV003933269 RCV003926134 RCV003396528 RCV003910671 RCV003968282 RCV004751788 RCV003950764 RCV003977981
Colorectal cancer	Conflicting classifications of pathogenicity	rs751041263	RCV005930075
Lung cancer	Uncertain significance	rs141699596	RCV005930658
Sarcoma	Uncertain significance	rs141699596	RCV005930657
Thymoma	Uncertain significance	rs377280329	RCV005939092
Uterine corpus endometrial carcinoma	Uncertain significance	rs756958019	RCV005935044
Uveal melanoma	Likely benign	rs144682871	RCV005921190

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ataxia	Associate	27647924
Breast Neoplasms	Associate	26109344, 26183823, 29228969
Carcinoma Hepatocellular	Associate	20096344
Carcinoma Non Small Cell Lung	Associate	35999530
Carcinoma Squamous Cell	Associate	39738606
Chemical and Drug Induced Liver Injury	Associate	35395098
Cognition Disorders	Associate	27647924
Glaucoma Open Angle	Associate	36002796
Liver Cirrhosis	Associate	27647924
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Associate	27647924, 35395098
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Inhibit	35395098
Neoplasms	Inhibit	26109344
Neoplasms	Associate	35999530
Urinary Bladder Neoplasms	Associate	37632832

ACOX2 (acyl-CoA oxidase 2)