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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACOX2 Gene

protein-coding   GIFtS: 61
GCID: GC03M058490

Acyl-CoA Oxidase 2, Branched Chain

(Previous names: acyl-Coenzyme A oxidase 2, branched chain)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Diseases associated with ACOX2 include pseudoneonatal adrenoleukodystrophy, and zellweger syndrome, and among its related super-pathways are Synthesis of bile acids and bile salts and Metabolic pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ACOX2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Peroxisome
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99424

  • ACOX2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACOX2 Protein Expression
    REFSEQ proteins: NP_003491.1  
    ENSEMBL proteins: 
     ENSP00000418562   ENSP00000307697   ENSP00000417877   ENSP00000418515   ENSP00000419133  
     ENSP00000419927  
    Reactome Protein details: Q99424
    Human Recombinant Protein Products for ACOX2: 
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    Novus Biologicals ACOX2 Proteins
    Novus Biologicals ACOX2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ACOX2 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    ACOX2 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for ACOX2 
    Cloud-Clone Corp. CLIAs for ACOX2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR012258 Acyl-CoA_oxidase
     IPR009100 AcylCoA_DH/oxidase
     IPR013786 AcylCoA_DH/ox_N
     IPR006091 Acyl-CoA_Oxase/DH_cen-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


    ACOX2 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (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 ----
         
    ACOX2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ACOX2 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACOX2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ACOX2 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts0.87
    Primary bile acid biosynthesis0.74
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.87
    bile acid biosynthesis, neutral pathway0.50
    Bile acid and bile salt metabolism0.74
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3Peroxisomal lipid metabolism
    Peroxisomal lipid metabolism0.38
    Beta-oxidation of pristanoyl-CoA0.38
    4fatty acid activation
    fatty acid beta-oxidation VI (peroxisome)0.46
    5Peroxisome
    Peroxisome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    5/7        Reactome Pathways for ACOX2 (see all 7)
        Beta-oxidation of pristanoyl-CoA
    Bile acid and bile salt metabolism
    Metabolism
    Peroxisomal lipid metabolism
    Synthesis of bile acids and bile salts


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


    ACOX2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACOX2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for ACOX2 (ENSP000003076974) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AMACRENSP000003344244STRING: ENSP00000334424
    HSD17B4ENSP000002562164STRING: ENSP00000256216
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (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--

    ACOX2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ACOX2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ACOX2

    10/35 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)

    Search CenterWatch for drugs/clinical trials and news about ACOX2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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 

    24/104 AceView cDNA sequences (see all 104):

    BU631122 BU542267 BU952554 BU951118 C00931 BC033517 BU502674 BQ268819 
    BE896858 BF725326 BQ887020 NM_003500 BF063434 BG545036 CB163506 BF591987 
    BG563010 AL709699 BQ067664 BM973931 BC047700 CA487428 AA635641 BG698950 

    GeneLoc Exon Structure

    5/11 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ACOX2 expression in normal human tissues (normalized intensities)      ACOX2 embryonic expression: see
    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 
     5/8 selected tissues (see all 8) fully expand
     
     Uncategorized (Uncategorized)    fully expand to see all 2 entries
             PureStem Progenitor EN7
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
     
     Heart (Cardiovascular System)
             heart/ventricle   
     
     Intestine (Gastrointestinal Tract)
             small intestine   

    See ACOX2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACOX2

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including ACOX2: 
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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)
    About This Section

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

    Orthologs for ACOX2 gene from 7/14 species (see all 14)    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_414406.3  XP_414406.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACOX26
    Acyl-coenzyme A oxidase
    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...
    24(a)
    1 → many
    VII(108158-110404)


    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)
    About This Section
    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

    ACOX2 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/720 SNPs in ACOX2 are shown (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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601641    OMIM disorders: --

    6 diseases for ACOX2:    About MalaCards
    pseudoneonatal adrenoleukodystrophy    zellweger syndrome    peroxisome disorders    adrenoleukodystrophy
    hepatoblastoma    mental retardation

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

    ACOX2 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for ACOX2 gene, integrated from 9 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. (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. (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. (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. (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. (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. (1993)
    7. Identification of ACOX2 as a shared genetic risk fact or for preeclampsia and cardiovascular disease. (PubMed id 21343950)1 Johansson A....Blangero J. (2011)
    8. A proteome-wide perspective on peroxisome targeting s ignal 1(PTS1)-Pex5p affinities. (PubMed id 20178365)1 Ghosh D. and Berg J.M. (2010)
    9. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)
    10. Biochemistry of mammalian peroxisomes revisited. (PubMed id 16756494)1 Wanders R.J. and Waterham H.R. (2006)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 8309 HGNC: 120 AceView: ACOX2 Ensembl:ENSG00000168306 euGenes: HUgn8309
    ECgene: ACOX2 Kegg: 8309 H-InvDB: ACOX2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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