ACOX2 (acyl-CoA oxidase 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8309
Gene name Gene Name - the full gene name approved by the HGNC.
Acyl-CoA oxidase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACOX2
Synonyms (NCBI Gene) Gene synonyms aliases
BCOX, BRCACOX, BRCOX, CBAS6, THCCox
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p14.3
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs150832314 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601641 120 ENSG00000168306
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital Bile Acid Synthesis Defect Congenital bile acid synthesis defect 6 rs1057519329 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS
Show/Hide Text Mining Associations (14)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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