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Aliases for ACOX2 Gene

Aliases for ACOX2 Gene

  • Acyl-CoA Oxidase 2, Branched Chain 2 3
  • 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
  • THCA-CoA Oxidase 3 4
  • THCCox 3 4
  • Peroxisomal Branched Chain Acyl-CoA Oxidase 3
  • EC 1.17.99.3 4
  • BRCACox 3
  • BRCOX 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 mental retardation, and death in children. [provided by RefSeq, Mar 2009]

GeneCards Summary for ACOX2 Gene

ACOX2 (Acyl-CoA Oxidase 2, Branched Chain) is a Protein Coding gene. Among its related pathways are Metabolism and Peroxisomal lipid metabolism. 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 ACOX3.

UniProtKB/Swiss-Prot for ACOX2 Gene

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

No data available for 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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    • Heterodimer.

neXtProt entry for ACOX2 Gene

Proteomics data for ACOX2 Gene at MOPED

Post-translational modifications for ACOX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACOX2 Gene

Antibody Products

No data available for DME Specific Peptides for ACOX2 Gene

Domains & Families for ACOX2 Gene

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

No data available for Gene Families for ACOX2 Gene

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

Gene Ontology (GO) - Molecular Function for ACOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IBA --
GO:0003995 acyl-CoA dehydrogenase activity IBA --
GO:0003997 acyl-CoA oxidase activity TAS --
GO:0005102 receptor binding IPI 20178365
GO:0005504 fatty acid binding IEA --
genes like me logo Genes that share ontologies with ACOX2: view

Phenotypes for ACOX2 Gene

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

Animal Model Products

miRNA for ACOX2 Gene

miRTarBase miRNAs that target ACOX2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACOX2

In Situ Assay Products

Flow Cytometry Products

No data available for 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
Jensen Localization Image for ACOX2 Gene COMPARTMENTS Subcellular localization image for ACOX2 gene
Compartment Confidence
peroxisome 5
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ACOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IDA 2079609
GO:0005782 peroxisomal matrix TAS --
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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for ACOX2 Gene

Gene Ontology (GO) - Biological Process for ACOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006631 fatty acid metabolic process --
GO:0006635 fatty acid beta-oxidation --
GO:0006699 bile acid biosynthetic process TAS --
GO:0008152 metabolic process --
GO:0008206 bile acid metabolic process TAS --
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

(3) Drugs for ACOX2 Gene - From: NovoSeek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Propionyl-CoA Experimental Pharma 0
pristanic acid Pharma Agonist 0

(40) 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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACOX2

Flow Cytometry Products

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 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, MOPED, and MaxQB for ACOX2 Gene



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
genes like me logo Genes that share expression patterns with ACOX2: view

Protein tissue co-expression partners for ACOX2 Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia ACOX2 35
  • 83.14 (n)
  • 80 (a)
ACOX2 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACOX2 35
  • 84.39 (n)
  • 79.15 (a)
ACOX2 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acox2 35
  • 79.83 (n)
  • 73.42 (a)
Acox2 16
Acox2 36
  • 73 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACOX2 35
  • 99.46 (n)
  • 99.27 (a)
ACOX2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acox2 35
  • 79.1 (n)
  • 74.01 (a)
oppossum
(Monodelphis domestica)
Mammalia ACOX2 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 59 (a)
OneToMany
-- 36
  • 62 (a)
OneToMany
chicken
(Gallus gallus)
Aves ACOX2 35
  • 63.17 (n)
  • 58.51 (a)
ACOX2 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACOX2 36
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acox2 35
  • 60.18 (n)
  • 55.17 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16340 35
fruit fly
(Drosophila melanogaster)
Insecta Acox57D-d 37
  • 33 (a)
Acox57D-p 37
  • 37 (a)
CG4586 37
  • 34 (a)
Acox57D-d 36
  • 34 (a)
ManyToMany
Acox57D-p 36
  • 34 (a)
ManyToMany
CG4586 36
  • 34 (a)
ManyToMany
CG5009 36
  • 36 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C48B4.1 37
  • 33 (a)
F08A8.1 37
  • 37 (a)
F08A8.2 37
  • 35 (a)
F08A8.3 37
  • 36 (a)
F08A8.4 37
  • 37 (a)
acox-1 36
  • 37 (a)
ManyToMany
C48B4.1 36
  • 33 (a)
ManyToMany
F08A8.2 36
  • 36 (a)
ManyToMany
F08A8.3 36
  • 35 (a)
ManyToMany
F08A8.4 36
  • 37 (a)
ManyToMany
F59F4.1 36
  • 36 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POX1 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToMany
-- 36
  • 42 (a)
OneToMany
Species with no ortholog for ACOX2:
  • 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 MAF
rs1127743 -- 58,526,648(-) CACGC(A/G)CTGAG reference, synonymous-codon
rs1127745 -- 58,526,510(-) TCCTG(A/C/T)ACCTA stop-gained, synonymous-codon, reference
rs4074341 -- 58,531,034(-) TGCTC(A/G)TCACA intron-variant
rs4234391 -- 58,536,675(+) CCAGC(A/T)TTTGC intron-variant, missense, reference, utr-variant-5-prime
rs4317122 -- 58,513,116(+) tagct(C/G/T)cccct intron-variant

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

Variant ID Type Subtype PubMed ID
nsv876831 CNV Gain 21882294
nsv3839 CNV Loss 18451855
nsv520486 CNV Gain 19592680
nsv876832 CNV Loss 21882294

Variation tolerance for ACOX2 Gene

Residual Variation Intolerance Score: 41.22% 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

HapMap Linkage Disequilibrium report
ACOX2

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

Disorders for ACOX2 Gene

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 MalaCards , UniProtKB/Swiss-Prot and 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's syndrome. (PMID: 8943006) Baumgart E. … Van Veldhoven P.P. (Proc. Natl. Acad. Sci. U.S.A. 1996) 2 23 67
  2. Comprehensive gene expression analysis of 5'-end of mRNA identified novel intronic transcripts associated with hepatocellular carcinoma. (PMID: 20096344) Hodo Y. … Matsushima K. (Genomics 2010) 23 67
  3. Peroxisomal lipid degradation via beta- and alpha-oxidation in mammals. (PMID: 11330072) Mannaerts G.P. … Casteels M. (Cell Biochem. Biophys. 2000) 23 67
  4. cDNA cloning and analysis of tissue-specific expression of mouse peroxisomal straight-chain acyl-CoA oxidase. (PMID: 10672038) NAPhammer C. … Hoefler G. (Eur. J. Biochem. 2000) 23 67
  5. Role and organization of peroxisomal beta-oxidation. (PMID: 10709653) Van Veldhoven P.P. … Mannaerts G.P. (Adv. Exp. Med. Biol. 1999) 23 67

Products for ACOX2 Gene

Sources for ACOX2 Gene

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