Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ACOX2 Gene

Aliases for ACOX2 Gene

  • Acyl-CoA Oxidase 2 2 3 5
  • 3-Alpha,7-Alpha,12-Alpha-Trihydroxy-5-Beta-Cholestanoyl-CoA 24-Hydroxylase 2 3 4
  • Trihydroxycoprostanoyl-CoA Oxidase 2 3 4
  • 3-Alpha,7-Alpha,12-Alpha-Trihydroxy-5-Beta-Cholestanoyl-CoA Oxidase 3 4
  • Acyl-Coenzyme A Oxidase 2, Branched Chain 2 3
  • Acyl-CoA Oxidase 2, Branched Chain 2 3
  • Branched Chain Acyl-CoA Oxidase 2 3
  • THCA-CoA Oxidase 3 4
  • THCCox 3 4
  • Peroxisomal Branched Chain Acyl-CoA Oxidase 3
  • Peroxisomal Acyl-Coenzyme A Oxidase 2 3
  • EC 1.17.99.3 4
  • BRCACOX 3
  • BRCOX 3
  • CBAS6 3
  • BCOX 3

External Ids for ACOX2 Gene

Previous GeneCards Identifiers for ACOX2 Gene

  • GC03M057354
  • GC03M057859
  • GC03M058345
  • GC03M058448
  • GC03M058465

Summaries for ACOX2 Gene

Entrez Gene Summary for ACOX2 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]

GeneCards Summary for ACOX2 Gene

ACOX2 (Acyl-CoA Oxidase 2) is a Protein Coding gene. Diseases associated with ACOX2 include Bile Acid Synthesis Defect, Congenital, 6 and Congenital Bile Acid Synthesis Defect. Among its related pathways are Metabolism and Synthesis of bile acids and bile salts. GO annotations related to this gene include receptor binding and oxidoreductase activity, acting on the CH-CH group of donors. An important paralog of this gene is ACOX1.

UniProtKB/Swiss-Prot for ACOX2 Gene

  • Oxidizes the CoA esters of the bile acid intermediates di- and tri-hydroxycholestanoic acids.

Additional gene information for ACOX2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACOX2 Gene

Genomics for ACOX2 Gene

Regulatory Elements for ACOX2 Gene

Enhancers for ACOX2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H058535 1.5 Ensembl ENCODE dbSUPER 14.8 +0.1 65 3 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 TCF12 GATA2 ATF7 SP5 ACOX2 RPL27P9
GH03H058469 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.4 +65.7 65724 3 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 FOS SP3 RPP14 PXK PDHB LOC105377110 KCTD6 ACOX2 HTD2 FAM107A ENSG00000243384 ENSG00000272182
GH03H058382 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.3 +150.9 150949 6 TAF1 JUN MAX RAD21 ZNF664 CTBP1 GATA3 ZNF316 POLR2A FOS PXK RPP14 FAM107A HTD2 ACOX2 ENSG00000243384 PDHB FLNB-AS1 ENSG00000275607 ENSG00000272182
GH03H058560 0.9 Ensembl ENCODE 17.7 -24.3 -24315 2 SOX5 SOX13 CTCF TEAD1 JUN ZNF384 RAD21 RFX5 TEAD3 JUND ACOX2 FAM3D-AS1 FAM107A HTD2 RPP14 FAM3D ENSG00000243384
GH03H058462 1.2 Ensembl ENCODE 11.4 +73.7 73709 1 PKNOX1 FOXA2 ARID4B ZNF207 ZNF143 ATF7 RUNX3 DEK ZC3H11A REST PDHB RPP14 PXK KCTD6 ACOX2 HTD2 ENSG00000243384 FAM107A ENSG00000272360
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACOX2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ACOX2 Gene

Chromosome:
3
Start:
58,505,136 bp from pter
End:
58,537,348 bp from pter
Size:
32,213 bases
Orientation:
Minus strand

Genomic View for ACOX2 Gene

Genes around ACOX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACOX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACOX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACOX2 Gene

Proteins for ACOX2 Gene

  • Protein details for ACOX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99424-ACOX2_HUMAN
    Recommended name:
    Peroxisomal acyl-coenzyme A oxidase 2
    Protein Accession:
    Q99424
    Secondary Accessions:
    • A6NF16
    • B2R8U5

    Protein attributes for ACOX2 Gene

    Size:
    681 amino acids
    Molecular mass:
    76827 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homodimer.

neXtProt entry for ACOX2 Gene

Post-translational modifications for ACOX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ACOX2 Gene

Domains & Families for ACOX2 Gene

Gene Families for ACOX2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q99424

UniProtKB/Swiss-Prot:

ACOX2_HUMAN :
  • Belongs to the acyl-CoA oxidase family.
Family:
  • Belongs to the acyl-CoA oxidase family.
genes like me logo Genes that share domains with ACOX2: view

Function for ACOX2 Gene

Molecular function for ACOX2 Gene

GENATLAS Biochemistry:
peroxisomal acyl-CoA oxidase,acting on the CoA-esters of bile acid intermediates and pristanic acid ,expressed in liver and extrahepatic tissues,about null activity in the Zellweger cerebrohepatorenal syndrome
UniProtKB/Swiss-Prot CatalyticActivity:
(25R)-3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestan-26-oyl-CoA + H(2)O + acceptor = (24R,25R)-3-alpha,7-alpha,12-alpha,24-tetrahydroxy-5-beta-cholestan-26-oyl-CoA + reduced acceptor.
UniProtKB/Swiss-Prot Function:
Oxidizes the CoA esters of the bile acid intermediates di- and tri-hydroxycholestanoic acids.

Enzyme Numbers (IUBMB) for ACOX2 Gene

Phenotypes From GWAS Catalog for ACOX2 Gene

Gene Ontology (GO) - Molecular Function for ACOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003995 acyl-CoA dehydrogenase activity IBA --
GO:0003997 acyl-CoA oxidase activity IEA,TAS --
GO:0005102 receptor binding IPI 20178365
GO:0016402 pristanoyl-CoA oxidase activity TAS --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with ACOX2: view
genes like me logo Genes that share phenotypes with ACOX2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ACOX2

CRISPR Products

miRNA for ACOX2 Gene

miRTarBase miRNAs that target ACOX2

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ACOX2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACOX2 Gene

Localization for ACOX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACOX2 Gene

Peroxisome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACOX2 gene
Compartment Confidence
mitochondrion 5
peroxisome 5
nucleus 2
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005777 peroxisome ISS,IEA --
GO:0005782 peroxisomal matrix TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with ACOX2: view

Pathways & Interactions for ACOX2 Gene

genes like me logo Genes that share pathways with ACOX2: view

Gene Ontology (GO) - Biological Process for ACOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation IEA --
GO:0006699 bile acid biosynthetic process TAS --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ACOX2: view

No data available for SIGNOR curated interactions for ACOX2 Gene

Drugs & Compounds for ACOX2 Gene

(5) Drugs for ACOX2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Water Approved Pharma 0
Hexanoyl-CoA Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0

(38) Additional Compounds for ACOX2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(25S)-3alpha,7alpha,12alpha-Trihydroxy-5beta-cholestan-26-oyl-CoA
(25S)-3alpha,7alpha-Dihydroxy-5beta-cholestanoyl-CoA
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
4460-95-1
genes like me logo Genes that share compounds with ACOX2: view

Transcripts for ACOX2 Gene

Unigene Clusters for ACOX2 Gene

Acyl-CoA oxidase 2, branched chain:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ACOX2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ACOX2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12a ·
SP1: - - - - - - -
SP2: - - - -
SP3:
SP4:
SP5: - - -
SP6: -
SP7: - -
SP8: - -
SP9: -
SP10: -
SP11: -

ExUns: 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: -
SP2:
SP3: -
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for ACOX2 Gene

GeneLoc Exon Structure for
ACOX2
ECgene alternative splicing isoforms for
ACOX2

Expression for ACOX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACOX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACOX2 Gene

This gene is overexpressed in Liver (x12.1).

Protein differential expression in normal tissues from HIPED for ACOX2 Gene

This gene is overexpressed in Liver (50.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ACOX2 Gene



Protein tissue co-expression partners for ACOX2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ACOX2 Gene:

ACOX2

SOURCE GeneReport for Unigene cluster for ACOX2 Gene:

Hs.444959

mRNA Expression by UniProt/SwissProt for ACOX2 Gene:

Q99424-ACOX2_HUMAN
Tissue specificity: Present in all tissues tested: heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Most abundant in heart, liver and kidney.

Evidence on tissue expression from TISSUES for ACOX2 Gene

  • Liver(4.6)
  • Kidney(4.3)
  • Intestine(4.1)
genes like me logo Genes that share expression patterns with ACOX2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ACOX2 Gene

Orthologs for ACOX2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ACOX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACOX2 33 34
  • 99.46 (n)
dog
(Canis familiaris)
Mammalia ACOX2 33 34
  • 84.39 (n)
cow
(Bos Taurus)
Mammalia ACOX2 33 34
  • 83.14 (n)
mouse
(Mus musculus)
Mammalia Acox2 33 16 34
  • 79.83 (n)
rat
(Rattus norvegicus)
Mammalia Acox2 33
  • 79.1 (n)
oppossum
(Monodelphis domestica)
Mammalia ACOX2 34
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 62 (a)
OneToMany
-- 34
  • 59 (a)
OneToMany
chicken
(Gallus gallus)
Aves ACOX2 33 34
  • 63.17 (n)
lizard
(Anolis carolinensis)
Reptilia ACOX2 34
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acox2 33
  • 60.18 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16340 33
fruit fly
(Drosophila melanogaster)
Insecta Acox57D-p 35 34
  • 37 (a)
CG5009 34
  • 36 (a)
ManyToMany
CG4586 35 34
  • 34 (a)
Acox57D-d 35 34
  • 33 (a)
worm
(Caenorhabditis elegans)
Secernentea F08A8.1 35
  • 37 (a)
F08A8.4 35 34
  • 37 (a)
acox-1 34
  • 37 (a)
ManyToMany
F08A8.3 35 34
  • 36 (a)
F59F4.1 34
  • 36 (a)
ManyToMany
F08A8.2 35 34
  • 35 (a)
C48B4.1 35 34
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POX1 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
OneToMany
-- 34
  • 42 (a)
OneToMany
Species where no ortholog for ACOX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for ACOX2 Gene

ENSEMBL:
Gene Tree for ACOX2 (if available)
TreeFam:
Gene Tree for ACOX2 (if available)

Paralogs for ACOX2 Gene

Paralogs for ACOX2 Gene

(2) SIMAP similar genes for ACOX2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with ACOX2: view

Variants for ACOX2 Gene

Sequence variations from dbSNP and Humsavar for ACOX2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs150832314 Pathogenic, Congenital bile acid synthesis defect 6 (CBAS6) [MIM:617308] 58,531,723(+) ACTCC(A/G)GATTG reference, missense
rs1057519329 Pathogenic 58,534,476(-) AATTA(A/T)TTCAT intron-variant, upstream-variant-2KB, reference, stop-gained, utr-variant-5-prime
rs1000114998 -- 58,515,324(+) CCTGA(A/G)CAAAC intron-variant
rs1000619881 -- 58,538,087(+) GCCTC(A/T)CAGCA intron-variant, upstream-variant-2KB
rs1000629463 -- 58,508,464(+) AGCTT(A/C)CTACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ACOX2 Gene

Variant ID Type Subtype PubMed ID
dgv4749n100 CNV gain 25217958
nsv1136727 CNV deletion 24896259
nsv3839 CNV deletion 18451855
nsv520486 CNV gain 19592680
nsv590370 CNV loss 21841781

Variation tolerance for ACOX2 Gene

Residual Variation Intolerance Score: 41.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.81; 47.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACOX2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACOX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACOX2 Gene

Disorders for ACOX2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ACOX2 Gene - From: OMIM, ClinVar, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
bile acid synthesis defect, congenital, 6
  • congenital bile acid synthesis defect 6
congenital bile acid synthesis defect
  • bile acid synthesis defect, congenital, 1
- elite association - COSMIC cancer census association via MalaCards
Search ACOX2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACOX2_HUMAN
  • Congenital bile acid synthesis defect 6 (CBAS6) [MIM:617308]: An inborn error of bile acid synthesis characterized by abnormally increased liver enzymes, hypolipidemia and low cholesterol, vitamin D deficiency, elevated plasma and urinary levels of C27 intermediate bile acids 3alpha,7alpha-dihydroxy-5beta-cholestanoic acid (DHCA) and 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoic acid (THCA). Serum levels of phytanic and pristanic acids are normal. Clinical features include liver fibrosis, mild ataxia, delayed development, and cognitive impairment. Liver histology shows many thin fibrous septa, swollen hepatocytes, glycogenated nuclei, and focal acinar transformation, consistent with hepatocellular injury and regeneration, without signs of obvious cholestasis, cholate stasis, or steatosis. CBAS6 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:27647924, ECO:0000269 PubMed:27884763}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ACOX2

Genetic Association Database (GAD)
ACOX2
Human Genome Epidemiology (HuGE) Navigator
ACOX2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACOX2
genes like me logo Genes that share disorders with ACOX2: view

No data available for Genatlas for ACOX2 Gene

Publications for ACOX2 Gene

  1. Molecular characterization of the human peroxisomal branched-chain acyl-CoA oxidase: cDNA cloning, chromosomal assignment, tissue distribution, and evidence for the absence of the protein in Zellweger syndrome. (PMID: 8943006) Baumgart E … van Veldhoven PP (Proceedings of the National Academy of Sciences of the United States of America 1996) 2 3 4 22 60
  2. ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia. (PMID: 27884763) Monte MJ … Marin JJ (Journal of hepatology 2016) 3 4 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Assignment of the human peroxisomal branched-chain acyl-CoA oxidase gene to chromosome 3p21.1-p14.2 by rodent/human somatic cell hybridization. (PMID: 9070889) Moghrabi NN … Bennett MJ (Biochemical and biophysical research communications 1997) 2 3 60

Products for ACOX2 Gene

Sources for ACOX2 Gene

Content
Loading form....