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

ACOX2 Gene

protein-coding   GIFtS: 57
GCID: GC03M058465

acyl-CoA oxidase 2, branched chain

(Previous names: acyl-Coenzyme A oxidase 2, branched chain )
 Explore 5 diseases affiliated with
ACOX2 via our new
 Human Malady Compendium 
Biological research products
for ACOX2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Acyl-CoA Oxidase 2, Branched Chain1 2     3-Alpha,7-Alpha,12-Alpha-Trihydroxy-5-Beta-Cholestanoyl-CoA Oxidase2 3
THCCox1 2 3     THCA-CoA Oxidase2 3
BRCACOX1 2 5     BCOX2
BRCOX1 2     Peroxisomal Acyl-Coenzyme A Oxidase 22
Acyl-Coenzyme A Oxidase 2, Branched Chain1 2     Peroxisomal Branched Chain Acyl-CoA Oxidase2
Trihydroxycoprostanoyl-CoA Oxidase2 3     EC 1.17.99.33
3-Alpha,7-Alpha,12-Alpha-Trihydroxy-5-Beta-Cholestanoyl-CoA 24-Hydroxylase2 3     

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


(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:
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)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022517.18  
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 GC03M058465:  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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q99424

  • ACOX2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003491.1  
    ENSEMBL proteins: 
     ENSP00000418562   ENSP00000307697   ENSP00000417877   ENSP00000418515   ENSP00000419133  
     ENSP00000419927  
    Reactome Protein details: Q99424
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    Uscn 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 IDA8943006
    GO:0005782peroxisomal matrix TAS--


    ACOX2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ACOX2 for domains           About GeneDecksing

    5/6 InterPro domains/families (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 family: IPB002655 Acyl-CoA oxidase

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: 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

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    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:0005504fatty acid binding ----
    GO:0016402pristanoyl-CoA oxidase activity TAS--


    ACOX2 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts1.00
    Bile acid and bile salt metabolism0.70
    Primary bile acid biosynthesis0.84
    bile acid biosynthesis, neutral pathway0.52
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.79
    2Metabolism
    Metabolism1.00
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.38
    3Peroxisomal lipid metabolism
    Peroxisomal lipid metabolism1.00
    Beta-oxidation of pristanoyl-CoA0.40
    4Peroxisome
    Peroxisome1.00
    5PPAR signaling pathway
    PPAR signaling pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for ACOX2 
        bile acid biosynthesis, neutral pathway

    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    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:0008206bile acid metabolic process TAS--
    GO:0033540fatty acid beta-oxidation using acyl-CoA oxidase TAS--


    ACOX2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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 cDNA 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):

    AL709699 BE896858 NM_003500 BQ887020 BF725326 BC033517 BU502674 C00931 
    BG563010 BF591987 BU542267 BG545036 BC047700 CA487428 BQ268819 BU952554 
    BF063434 CB163506 BQ067664 BU951118 BU631122 BM973931 BI763985 BM984228 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGATAATGGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    ACOX2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN7 (Embryonic Progenitor Cell)
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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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    In Situ
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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 eukaryotes.

    Orthologs for ACOX2 gene from 6/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    55(a)
    1 ↔ 1
    2(187146309-187177284)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.163402 Xenopus laevis transcribed sequence with weak similarity to protein spQ99424 (H.sapiens) CAO2_HUMAN Acyl-coenzyme A oxidase 2, peroxisomal (Branched-chain acyl-CoA oxidase) (BRCACox) (Trihydroxycoprostanoyl-CoA oxidase) (THCCox) (THCA-CoA oxidase) less 72.25(n)    BQ386896.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F08A8.13 ACYL-COENZYME A OXIDASE, PEROXISOMAL (EC
    1.3.3.6) (PALMITOYL-COA OXIDASE) (AOX) less
    37(a)
    (best of 5)
      I(12946613-12950171)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ACX56
    ACX16
    (see all 3)
    peroxisomal acyl-coenzyme A oxidase 1
    (see all 3)
    36(a)
    36(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    2(14999754-15003066)
    4(9424633-9428895)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    acyl-coenzyme A oxidase, putative, expressed
    36(a)
    25(a)
    1 ↔ many
    possible ortholog
    6(226701-231808)
    11(22888019-22892188)


    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, UniProtKB, 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

    10/590 NCBI SNPs in ACOX2 are shown (see all 590    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,--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
    --58491031(+) AGAAAC/TGCATT 1 -- int10--------

    HapMap Linkage Disequilibrium report for ACOX2 (58490863 - 58523046 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ACOX2
         1 CNV: 36157

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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.)
    About This Section

    ACOX2 for disorders           About GeneDecksing

    OMIM gene information: 601641    OMIM disorders: --

    5 diseases for ACOX2:    About MalaCards
    zellweger syndrome    acyl-coa dehydrogenase    pseudoneonatal adrenoleukodystrophy    adrenoleukodystrophy
    hepatoblastoma

    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 25):
    (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. 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)
    3. 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)
    4. Separate peroxisomal oxidases for fatty acyl-CoAs and trihydroxycoprostanoyl-CoA in human liver. (PubMed id 2079609)1, 9 Casteels M....Mannaerts G.P. (1990)
    5. 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)
    6. Identification of ACOX2 as a shared genetic risk fact or for preeclampsia and cardiovascular disease. (PubMed id 21343950)1 Johansson A....Blangero J. (2011)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    8. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)
    9. Biochemistry of mammalian peroxisomes revisited. (PubMed id 16756494)1 Wanders R.J. and Waterham H.R. (2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    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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