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ABCD2 Gene

protein-coding   GIFtS: 63
GCID: GC12M039945

ATP-Binding Cassette, Sub-Family D (ALD), Member 2


(Previous symbol: ALDL1)
Alzheimer's & Parkinson's Diseases Congress
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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
ATP-Binding Cassette, Sub-Family D (ALD), Member 21 2     ALDRP2 3
ALDL11 2 3 5     hALDR2 3
ALDR2 3 5     ABC392
Adrenoleukodystrophy-Like 12 3     ATP-Binding Cassette Sub-Family D Member 22
Adrenoleukodystrophy-Related Protein2 3     ALD13

External Ids:    HGNC: 661   Entrez Gene: 2252   Ensembl: ENSG000001732087   OMIM: 6010815   UniProtKB: Q9UBJ23   

Export aliases for ABCD2 gene to outside databases

Previous GC identifers: GC12M040139 GC12M039845 GC12M039663 GC12M038232 GC12M036971


(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 ABCD2 Gene:
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC
proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven
distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD
subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All
known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to
form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is
unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other
peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a
severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for
the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group
of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. (provided by RefSeq, Jul
2008)

GeneCards Summary for ABCD2 Gene:
ABCD2 (ATP-binding cassette, sub-family D (ALD), member 2) is a protein-coding gene. Diseases associated with ABCD2 include peroxisomal disease, and adrenoleukodystrophy. GO annotations related to this gene include ATPase activity, coupled to transmembrane movement of substances and protein homodimerization activity. An important paralog of this gene is ABCD3.

UniProtKB/Swiss-Prot: ABCD2_HUMAN, Q9UBJ2
Function: Probable transporter

Gene Wiki entry for ABCD2 Gene


(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:
NC_000012.12  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABCD2 gene promoter:
         GR   RP58   E47   Evi-1   POU2F1   POU2F1a   HSF2   c-Myb   Chx10   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABCD2 promoter sequence
   Search Chromatin IP Primers for ABCD2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABCD2


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

Entrez Gene cytogenetic band: 12q12   Ensembl cytogenetic band:  12q12   HGNC cytogenetic band: 12q12

ABCD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCD2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M039945:  view genomic region     (about GC identifiers)

Start:
39,943,835 bp from pter      End:
40,013,843 bp from pter
Size:
70,009 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ABCD2_HUMAN, Q9UBJ2 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family D member 2  
Size: 740 amino acids; 83233 Da
Subunit: Can form heterodimers with ABCD1/ALD and ABCD3/PMP70. Dimerization is necessary to form an active
transporter. Interacts with PEX19
Secondary accessions: B2RAM3 Q13210 Q2M3H9

Explore the universe of human proteins at neXtProt for ABCD2: NX_Q9UBJ2

Explore proteomics data for ABCD2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys411
  • Glycosylation2 at Asn190, Asn227
  • Modification sites at PhosphoSitePlus

  • See ABCD2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005155.1  
    ENSEMBL proteins: 
     ENSP00000310688  
    Reactome Protein details: Q9UBJ2

    ABCD2 Human Recombinant Protein Products:

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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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    HGNC Gene Families:
    ABCD: ATP binding cassette transporters / subfamily D

    IUPHAR Guide to PHARMACOLOGY protein family classification: ABCD2
    ABCD subfamily of peroxisomal ABC transporters

    Selected InterPro protein domains (see all 6):
     IPR010509 ABC_Peroxi_TM
     IPR003439 ABC_transporter-like
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase
     IPR011527 ABC1_TM_dom

    Graphical View of Domain Structure for InterPro Entry Q9UBJ2

    ProtoNet protein and cluster: Q9UBJ2

    1 Blocks protein domain: IPB010509 ABC transporter

    UniProtKB/Swiss-Prot: ABCD2_HUMAN, Q9UBJ2
    Similarity: Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC
    3.A.1.203) subfamily
    Similarity: Contains 1 ABC transmembrane type-1 domain
    Similarity: Contains 1 ABC transporter domain


    ABCD2 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ABCD2_HUMAN, Q9UBJ2
    Function: Probable transporter

         Genatlas biochemistry entry for ABCD2:
    ATP-binding cassette superfamily,subfamily D (ALD),member 2,expressed in brain,heart,and adrenals,peroxisomal
    membrane protein-like 1,adrenoleukodystrophy related

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005515protein binding IPI10704444
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity ----
    GO:0017111nucleoside-triphosphatase activity ----
         
    ABCD2 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Abcd2):
     behavior/neurological  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism  immune system 
     nervous system 

    ABCD2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Abcd2tm1Apuj for ABCD2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ABCD2
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ABCD2 (see all 21):
    hsa-miR-30c hsa-miR-142-5p hsa-miR-30d hsa-miR-340 hsa-miR-373* hsa-miR-30a hsa-miR-133a hsa-miR-588
    SwitchGear 3'UTR luciferase reporter plasmidABCD2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ABCD2
    Predesigned siRNA for gene silencing in human, mouse, rat ABCD2

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    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCD2


    (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
    ABCD2_HUMAN, Q9UBJ2: Peroxisome membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    peroxisome5
    cytosol4
    plasma membrane3
    mitochondrion2

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005777peroxisome IDA10196381
    GO:0005778peroxisomal membrane TAS--
    GO:0005829cytosol TAS--
    GO:0016020membrane ----

    ABCD2 for ontologies           About GeneDecksing


    (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 ABCD2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1ABC-family proteins mediated transport
    ABC-family proteins mediated transport0.69
    ABCA transporters in lipid homeostasis0.00
    ABC transporters0.69
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    3Peroxisome
    Peroxisome
    4Nuclear receptors in lipid metabolism and toxicity
    Nuclear receptors in lipid metabolism and toxicity

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ABCD2
        Nuclear receptors in lipid metabolism and toxicity

    1 Reactome Pathway for ABCD2
        ABCA transporters in lipid homeostasis


    2 Kegg Pathways  (Kegg details for ABCD2):
        ABC transporters
    Peroxisome


    ABCD2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ABCD2
    Interactions:

        GeneGlobe Interaction Network for ABCD2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for ABCD2 (Q9UBJ23 ENSP000003106884) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABCD1P338973, ENSP000002181044I2D: score=4 STRING: ENSP00000218104
    ABCD3P282883, ENSP000003592334I2D: score=3 STRING: ENSP00000359233
    ACSL1P331213, ENSP000002814554I2D: score=1 STRING: ENSP00000281455
    HSD17B4P516593, ENSP000002562164I2D: score=1 STRING: ENSP00000256216
    PEX19P408553, ENSP000003570514I2D: score=4 STRING: ENSP00000357051
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000038very long-chain fatty acid metabolic process IDA10196381
    GO:0006635fatty acid beta-oxidation IGI--
    GO:0006810transport ----
    GO:0032000positive regulation of fatty acid beta-oxidation IDA10196381
    GO:0042760very long-chain fatty acid catabolic process IGI--

    ABCD2 for ontologies           About GeneDecksing



    (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 ABCD2

    5 Novoseek inferred chemical compound relationships for ABCD2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phenylbutyrate 74.8 4 15809314 (2), 11592822 (1)
    fenofibrate 67.7 2 11087670 (1), 10196381 (1)
    sterol 42.3 7 12374760 (3), 14654352 (1), 16249184 (1)
    cholesterol 22.1 6 12374760 (3), 16213491 (1), 17881773 (1)
    atp 16.1 3 16946495 (2)



    ABCD2 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ABCD2 gene: 
    NM_005164.3  

    Unigene Cluster for ABCD2:

    ATP-binding cassette, sub-family D (ALD), member 2
    Hs.117852  [show with all ESTs]
    Unigene Representative Sequence: NM_005164
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000308666(uc001rmb.2)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ABCD2 (see all 21):
    hsa-miR-30c hsa-miR-142-5p hsa-miR-30d hsa-miR-340 hsa-miR-373* hsa-miR-30a hsa-miR-133a hsa-miR-588
    SwitchGear 3'UTR luciferase reporter plasmidABCD2 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat ABCD2

    Additional mRNA sequence: 

    AJ000327.1 AK314254.1 BC104901.1 BC104903.1 

    2 DOTS entries:

    DT.306517  DT.95149990 

    10 AceView cDNA sequences:

    BI668665 BX501529 CA396457 AJ000327 BP361730 NM_005164 BI668632 BX642487 
    H64389 H64439 

    GeneLoc Exon Structure


    (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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    ABCD2 expression in normal human tissues (normalized intensities)      ABCD2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACTTTACTT
    ABCD2 Expression
    About this image


    ABCD2 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
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Body Subcutaneous White Adipose
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     NULL (Uncategorized)
             Neural rosettes
    ABCD2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABCD2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.117852

    UniProtKB/Swiss-Prot: ABCD2_HUMAN, Q9UBJ2
    Tissue specificity: Predominantly expressed in brain and heart

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    In Situ
    Assay Products:
     

     
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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 eukaryotes.

    Orthologs for ABCD2 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abcd21 , 5 ATP-binding cassette, sub-family D (ALD), member 21, 5 88.95(n)1
    94.05(a)1
      15 (46.00 cM)5
    268741  NM_011994.21  NP_036124.21 
     911458845 
    chicken
    (Gallus gallus)
    Aves ABCD21 ATP-binding cassette, sub-family D (ALD), member 2 76.88(n)
    84.89(a)
      417694  NM_001199395.1  NP_001186324.1 
    lizard
    (Anolis carolinensis)
    Reptilia ABCD26
    ATP-binding cassette, sub-family D (ALD), member 2...
    81(a)
    1 ↔ 1
    5(98586114-98640608)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.12952 Transcribed sequence with moderate similarity to protein more 81.53(n)    CF151477.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ABCD2 (2 of 2)6
    ABCD2 (1 of 2)6
    ATP-binding cassette, sub-family D (ALD), member 2...
    ATP-binding cassette, sub-family D (ALD), member 2...
    82(a)
    72(a)
    1 ↔ many
    1 ↔ many
    Zv9_NA422(1731-16840) ENSDARG00000087347
    16(3801335-3814734) ENSDARG00000059409
    fruit fly
    (Drosophila melanogaster)
    Insecta CG23161 , 3 ATP-binding cassette (ABC) transporter3
    CG23161
    56(a)3
    60.39(n)1
    58.59(a)1
      102B13
    437721  NM_001258480.11  NP_001245409.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T02D1.53 ABC transporters 58(a)   IV(17402732-17405778)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PXA1(YPL147W)4 Subunit of a heterodimeric peroxisomal ATP-binding more   --   16(273255-275867) 855956  NP_015178.1 
    soybean
    (Glycine max)
    eudicotyledons Gma.56932 Transcribed sequence with weak similarity to protein more 74.17(n)  


    ENSEMBL Gene Tree for ABCD2 (if available)
    TreeFam Gene Tree for ABCD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ABCD2 gene
    ABCD32  ABCD12  ABCD42  
    3 SIMAP similar genes for ABCD2 using alignment to 1 protein entry:     ABCD2_HUMAN:
    ABCD1    ALD    ABCD3

    ABCD2 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), 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 ABCD2 (see all 1323)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0626644
    A pancreatic ductal adenocarcinoma sample4--see VAR_0626642 Q K mis40--------
    rs1900808921,2
    --39944850(+) TTCCCA/GCTGTA 1 -- ds50010--------
    rs1819326331,2
    --39944953(+) CACAAA/TCTGTT 1 -- ds50010--------
    rs1462508191,2
    --39944975(+) CTTGGC/TATAAC 1 -- ds50010--------
    rs1459787261,2
    C,F--39945002(+) ATATAA/GTGCAA 1 -- ds50011Minor allele frequency- G:0.00--508
    rs730965131,2
    C,F--39945053(+) TAACCT/GAAAGA 1 -- ut311Minor allele frequency- G:0.01--508
    rs1866330851,2
    --39945213(+) CTGTAC/TTCAAA 1 -- ut310--------
    rs784511291,2
    C,F--39945253(+) TTTCCG/ATAAAA 1 -- ut312Minor allele frequency- A:0.11WA 644
    rs125790561,2
    C,H--39945435(+) TATTAG/AAACTT 1 -- ut316Minor allele frequency- A:0.00NS EA NA 402
    rs1923557311,2
    --39945640(+) AAATTA/TTGTTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ABCD2 (39943835 - 40013843 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for ABCD2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745775CNV Deletion23290073
    esv2619796CNV Deletion19546169
    esv2007616CNV Deletion18987734
    esv2664468CNV Deletion23128226
    dgv1413n71CNV Loss21882294
    dgv1412n71CNV Loss21882294
    dgv197n27CNV Loss19166990
    dgv1414n71CNV Loss21882294
    nsv522940CNV Loss19592680
    nsv519635CNV Loss19592680

    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601081    OMIM disorders: --

    11 diseases for ABCD2:    About MalaCards
    peroxisomal disease    adrenoleukodystrophy    zellweger syndrome    neurologic diseases
    protein s deficiency    pancreatic cancer    tuberculosis    pancreatitis
    thyroiditis    malaria    cerebritis

    2 diseases from the University of Copenhagen DISEASES database for ABCD2:
    Adrenoleukodystrophy     Peroxisomal disease

    ABCD2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for ABCD2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adrenoleukodystrophy 95.5 20 9587057 (2), 12374760 (1), 10329405 (1), 9345306 (1) (see all 9)
    neurodegenerative diseases 52.1 2 11087670 (1)

    Genetic Association Database (GAD): ABCD2
    Human Genome Epidemiology (HuGE) Navigator: ABCD2 (5 documents)

    Export disorders for ABCD2 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 ABCD2 gene, integrated from 10 sources (see all 51):
    (articles sorted by number of sources associating them with ABCD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern. (PubMed id 8577752)1, 2, 3, 9 Lombard-Platet G.... Chimini G. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    2. Full length cDNA cloning, promoter sequence, and genomic organization of the human adrenoleukodystrophy related (ALDR) gene functionally redundant to the gene responsible for X-linked adrenoleukodystrophy. (PubMed id 10329405)1, 2, 9 Holzinger A....Roscher A.A. (Biochem. Biophys. Res. Commun. 1999)
    3. Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p. (PubMed id 10777694)1, 2, 9 Gloeckner C.J.... Roscher A.A. (Biochem. Biophys. Res. Commun. 2000)
    4. cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDRP), a peroxisomal ABC transporter. (PubMed id 9345306)1, 2, 9 Holzinger A.... Roscher A.A. (Biochem. Biophys. Res. Commun. 1997)
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    6. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (J. Hum. Genet. 2009)
    7. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (J. Lipid Res. 2008)
    8. 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)
    9. PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. (PubMed id 10704444)1, 2 Sacksteder K.A.... Gould S.J. (J. Cell Biol. 2000)
    10. Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters. (PubMed id 10551832)1, 2 Liu L.X....Aubourg P. (J. Biol. Chem. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 225 HGNC: 66 AceView: ABCD2 Ensembl:ENSG00000173208 euGenes: HUgn225
    ECgene: ABCD2 Kegg: 225 H-InvDB: ABCD2

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for ABCD2 Pharmacogenomics, SNPs, Pathways
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9UBJ2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ABCD2 gene:
    Search GeneIP for patents involving ABCD2

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



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