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ACOX2 Gene

protein-coding   GIFtS: 61
GCID: GC03M058490

Acyl-CoA Oxidase 2, Branched Chain

(Previous names: acyl-Coenzyme A oxidase 2, branched chain)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Acyl-CoA Oxidase 2, Branched Chain1 2     12-Alpha-Trihydroxy-5-Beta-Cholestanoyl-CoA 24-Hydroxylase1
Trihydroxycoprostanoyl-CoA Oxidase1 2 3     3-alpha1
Acyl-Coenzyme A Oxidase 2, Branched Chain1 2     7-alpha1
3-Alpha,7-Alpha,12-Alpha-Trihydroxy-5-Beta-Cholestanoyl-CoA 24-Hydroxylase2 3     BCOX2
3-Alpha,7-Alpha,12-Alpha-Trihydroxy-5-Beta-Cholestanoyl-CoA Oxidase2 3     BRCOX2
THCCox2 3     Peroxisomal Acyl-Coenzyme A Oxidase 22
THCA-CoA Oxidase2 3     Peroxisomal Branched Chain Acyl-CoA Oxidase2
BRCACOX2 5     EC 1.17.99.33

External Ids:    HGNC: 1201   Entrez Gene: 83092   Ensembl: ENSG000001683067   OMIM: 6016415   UniProtKB: Q994243   

Export aliases for ACOX2 gene to outside databases

Previous GC identifers: GC03M057354 GC03M057859 GC03M058345 GC03M058448 GC03M058465


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include acyl-CoA dehydrogenase activity and receptor binding. An important paralog of this gene is ACOX1.

UniProtKB/Swiss-Prot: ACOX2_HUMAN, Q99424
Function: Oxidizes the CoA esters of the bile acid intermediates di- and tri-hydroxycholestanoic acids




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACOX2 gene promoter:
         RFX1   SREBP-1c   Pax-2   Olf-1   Pax-2a   SREBP-1b   C/EBPalpha   c-Ets-1   Pax-2b   SREBP-1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACOX2 promoter sequence
   Search Chromatin IP Primers for ACOX2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACOX2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p14.3   Ensembl cytogenetic band:  3p14.3   HGNC cytogenetic band: 3p14.3

ACOX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACOX2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M058490:  view genomic region     (about GC identifiers)

Start:
58,490,863 bp from pter      End:
58,523,046 bp from pter
Size:
32,184 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ACOX2_HUMAN, Q99424 (See protein sequence)
Recommended Name: Peroxisomal acyl-coenzyme A oxidase 2  
Size: 681 amino acids; 76827 Da
Cofactor: FAD (By similarity)
Subunit: Heterodimer (By similarity)
Secondary accessions: A6NF16 B2R8U5

Explore the universe of human proteins at neXtProt for ACOX2: NX_Q99424

Explore proteomics data for ACOX2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ACOX2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003491.1  
    ENSEMBL proteins: 
     ENSP00000418562   ENSP00000307697   ENSP00000417877   ENSP00000418515   ENSP00000419133  
     ENSP00000419927  
    Reactome Protein details: Q99424

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR013786 AcylCoA_DH/ox_N
     IPR006091 Acyl-CoA_Oxase/DH_cen-dom
     IPR012258 Acyl-CoA_oxidase
     IPR009100 AcylCoA_DH/oxidase_NM_dom
     IPR002655 Acyl-CoA_oxidase_C

    Graphical View of Domain Structure for InterPro Entry Q99424

    ProtoNet protein and cluster: Q99424

    1 Blocks protein domain: IPB002655 Acyl-CoA oxidase

    UniProtKB/Swiss-Prot: ACOX2_HUMAN, Q99424
    Similarity: Belongs to the acyl-CoA oxidase family


    Find genes that share domains with ACOX2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACOX2_HUMAN, Q99424
    Function: Oxidizes the CoA esters of the bile acid intermediates di- and tri-hydroxycholestanoic acids
    Catalytic activity: (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

         Genatlas biochemistry entry for ACOX2:
    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

         Enzyme Number (IUBMB): EC 1.17.99.31

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003995acyl-CoA dehydrogenase activity IEA--
    GO:0003997acyl-CoA oxidase activity TAS--
    GO:0005102receptor binding IPI--
    GO:0016402pristanoyl-CoA oxidase activity TAS--
    GO:0016627oxidoreductase activity, acting on the CH-CH group of donors ----
         
    Find genes that share ontologies with ACOX2           About GenesLikeMe


    Animal Models:
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    hsa-mir-26b-5p (MIRT028915)

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    Sino Biological Human cDNA Clone for ACOX2
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACOX2_HUMAN, Q99424: Peroxisome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    peroxisome5
    cytosol2
    nucleus2
    extracellular1
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005777peroxisome IDA2079609
    GO:0005782peroxisomal matrix TAS--

    Find genes that share ontologies with ACOX2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ACOX2 About    
    See pathways by source

    SuperPathContained pathways About
    1Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts0.88
    bile acid biosynthesis, neutral pathway0.48
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.88
    Primary bile acid biosynthesis0.00
    Bile acid and bile salt metabolism0.73
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3PPAR signaling pathway
    fatty acid beta-oxidation VI (peroxisome)0.00
    PPAR signaling pathway
    4Peroxisomal lipid metabolism
    Peroxisomal lipid metabolism
    Beta-oxidation of pristanoyl-CoA0.00
    5Peroxisome
    Peroxisome


    Find genes that share SuperPaths with ACOX2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for ACOX2
        bile acid biosynthesis, neutral pathway
    fatty acid beta-oxidation VI (peroxisome)


    2 Reactome Pathways for ACOX2
        Beta-oxidation of pristanoyl-CoA
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol


    4 Kegg Pathways  (Kegg details for ACOX2):
        Primary bile acid biosynthesis
    Metabolic pathways
    PPAR signaling pathway
    Peroxisome

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACOX2: 
              Fatty Acid Metabolism in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ACOX2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for ACOX2 (ENSP000003076974) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AMACRENSP000003344244STRING: ENSP00000334424
    HSD17B4ENSP000002562164STRING: ENSP00000256216
    PPWD1ENSP000002613084STRING: ENSP00000261308
    TOPBP1ENSP000002608104STRING: ENSP00000260810
    PEX5ENSP000004074014STRING: ENSP00000407401
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006631fatty acid metabolic process ----
    GO:0006635fatty acid beta-oxidation ----
    GO:0006699bile acid biosynthetic process TAS--
    GO:0008152metabolic process ----
    GO:0008206bile acid metabolic process TAS--

    Find genes that share ontologies with ACOX2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACOX2

    Selected HMDB Compounds for ACOX2 (see all 35)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3Z-dodecenoyl-CoAS-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)2152-91-2--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Acrylyl-CoAAcryloyl coenzyme A (see all 14)5776-58-9--

    4 Novoseek inferred chemical compound relationships for ACOX2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pristanic acid 93.1 1 9803880 (1)
    acyl-coa 85.5 14 11330072 (1), 9271077 (1), 10709653 (1), 8943006 (1) (see all 9)
    tripeptide 62.9 1 8947475 (1)
    sterol 52.3 4 9803880 (1), 10379198 (1)



    Find genes that share compounds with ACOX2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ACOX2 gene: 
    NM_003500.3  

    Unigene Cluster for ACOX2:

    Acyl-CoA oxidase 2, branched chain
    Hs.444959  [show with all ESTs]
    Unigene Representative Sequence: BC033517
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000481527 ENST00000467738 ENST00000459701 ENST00000302819(uc003dkl.3)
    ENST00000460921 ENST00000489472 ENST00000459888 ENST00000466810 ENST00000492530
    ENST00000474098 ENST00000475143 ENST00000466689 ENST00000480791
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      QuantiTect SYBR Green Assays in human, mouse, rat ACOX2
      QuantiFast Probe-based Assays in human, mouse, rat ACOX2

    Additional mRNA sequence: 

    AK313512.1 BC033517.1 BC047700.1 X95190.1 

    12 DOTS entries:

    DT.214407  DT.95170707  DT.100777087  DT.40262032  DT.92426992  DT.100712743  DT.100777083  DT.100777089 
    DT.120884000  DT.120884022  DT.91678918  DT.95170708 

    Selected AceView cDNA sequences (see all 104):

    BQ887020 BG563010 BQ268819 BM973931 CB163506 CA487428 BE896858 NM_003500 
    BU951118 AL709699 BF591987 BQ067664 BG545036 BU952554 BC047700 BF725326 
    BU502674 C00931 BF063434 BU542267 BC033517 BU631122 BE789979 BG104346 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACOX2 (see all 11)    About this scheme

    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:                                                                                                              -     -           -                           

    ExUns: 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
    SP1:        -                           
    SP2:                                    
    SP3:        -                           
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for ACOX2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ACOX2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGATAATGGT
    ACOX2 Expression
    About this image


    ACOX2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
     
     Liver (Hepatobiliary System)
     
     Kidney (Urinary System)
    ACOX2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACOX2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.444959

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACOX2: 
              Fatty Acid Metabolism in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ACOX2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acox21 , 5 acyl-Coenzyme A oxidase 2, branched chain1, 5 79.83(n)1
    73.42(a)1
      14 (4.77 cM)5
    937321  NM_001161667.11  NP_001155139.11 
     82255115 
    chicken
    (Gallus gallus)
    Aves ACOX21 acyl-CoA oxidase 2, branched chain 63.17(n)
    58.51(a)
      416068  XM_004944646.1  XP_004944703.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACOX26
    acyl-CoA oxidase 2, branched chain
    54(a)
    1 ↔ 1
    2(187139403-187179640)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.163402 Xenopus laevis transcribed sequence with weak similarity more 72.25(n)    BQ386896.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Acox57D-p3 acyl-CoA oxidase 37(a)
    (best of 3)
      57E1   --
    worm
    (Caenorhabditis elegans)
    Secernentea F08A8.13 ACYL-COENZYME A OXIDASE, PEROXISOMAL
    (EC 1.3.3.6) more
    37(a)
    (best of 5)
      I(12946613-12950171)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes POX16
    Fatty-acyl coenzyme A oxidase, involved in the fat...
    23(a)
    1 → many
    VII(108158-110404) YGL205W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACOX2 gene
    ACOX12  ACOX32  ACOXL2  
    2 SIMAP similar genes for ACOX2 using alignment to 6 protein entries:     ACOX2_HUMAN (see all proteins):
    ACOX3    ACOX1

    Find genes that share paralogs with ACOX2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACOX2 (see all 720)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs755466191,2
    C,F--58490418(+) TGGCTG/ACTTTT 1 -- ds50011Minor allele frequency- A:0.50WA 2
    rs1389148381,2
    --58490489(+) ACCTCA/GTGATC 1 -- ds50010--------
    rs1428150041,2
    --58490495(+) TGATCC/TACCTG 1 -- ds50010--------
    rs1898461931,2
    --58490533(+) CAGGCA/GTGAGA 1 -- ds50010--------
    rs1824297311,2
    --58490586(+) CTGGTC/TTCGAA 1 -- ds50010--------
    rs46818581,2
    C,F,A,H--58490665(+) cgcccC/TACTGG 1 -- ds500124Minor allele frequency- T:0.23NS EA NA CSA WA 2485
    rs758573111,2
    C--58490887(+) GTTGCA/GTATAT 1 -- ut312Minor allele frequency- G:0.05NA 122
    rs1863806431,2
    C--58490945(+) TGTTGA/GTTATT 1 -- ut310--------
    rs1911369071,2
    C--58491013(+) GTTCTC/TCTGTT 2 K E mis10--------
    rs2007678081,2
    C--58491031(+) AGAAAC/TGCATT 1 -- int10--------

    HapMap Linkage Disequilibrium report for ACOX2 (58490863 - 58523046 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ACOX2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv876832CNV Loss21882294
    nsv3839CNV Loss18451855
    nsv520486CNV Gain19592680
    nsv876831CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601641    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for ACOX2:
    Zellweger syndrome

    Find genes that share disorders with ACOX2           About GenesLikeMe

    Genetic Association Database (GAD): ACOX2
    Human Genome Epidemiology (HuGE) Navigator: ACOX2 (1 document)

    Export disorders for ACOX2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ACOX2 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with ACOX2)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 8943006)1, 2, 3, 9 Baumgart E....Van Veldhoven P.P. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Assignment of the human peroxisomal branched-chain acyl-CoA oxidase gene to chromosome 3p21.1-p14.2 by rodent/human somatic cell hybridization. (PubMed id 9070889)1, 3 Moghrabi N.N....Bennett M.J. (Biochem. Biophys. Res. Commun. 1997)
    5. Separate peroxisomal oxidases for fatty acyl-CoAs and trihydroxycoprostanoyl-CoA in human liver. (PubMed id 2079609)1, 9 Casteels M....Mannaerts G.P. (J. Lipid Res. 1990)
    6. The CoA esters of 2-methyl-branched chain fatty acids and of the bile acid intermediates di- and trihydroxycoprostanic acids are oxidized by one single peroxisomal branched chain acyl-CoA oxidase in human liver and kidney. (PubMed id 8387517)1, 9 Vanhove G.F....Mannaerts G.P. (J. Biol. Chem. 1993)
    7. Identification of ACOX2 as a shared genetic risk factor for preeclampsia and cardiovascular disease. (PubMed id 21343950)1 Johansson A....Blangero J. (Eur. J. Hum. Genet. 2011)
    8. A proteome-wide perspective on peroxisome targeting signal 1(PTS1)- Pex5p affinities. (PubMed id 20178365)1 Ghosh D. and Berg J.M. (J. Am. Chem. Soc. 2010)
    9. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (Nature 2006)
    10. Biochemistry of mammalian peroxisomes revisited. (PubMed id 16756494)1 Wanders R.J. and Waterham H.R. (Annu. Rev. Biochem. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8309 HGNC: 120 AceView: ACOX2 Ensembl:ENSG00000168306 euGenes: HUgn8309
    ECgene: ACOX2 Kegg: 8309 H-InvDB: ACOX2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ACOX2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACOX2 gene:
    Search GeneIP for patents involving ACOX2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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