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

ABCD2 Gene

protein-coding   GIFtS: 60
GCID: GC12M039945

ATP-binding cassette, sub-family D (ALD), member 2


(Previous symbol: ALDL1)
 Explore 12 diseases affiliated with
ABCD2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ABCD2    

Aliases
for ABCD2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
ATP-Binding Cassette, Sub-Family D (ALD), Member 21 2     Adrenoleukodystrophy-Related Protein2 3
ALDL11 2 3 5     HALDR1
ALDR1 2 3 5     ABC392
ALDRP1 2 3     ATP-Binding Cassette Sub-Family D Member 22
Adrenoleukodystrophy-Like 12 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


Summaries
for ABCD2 gene

(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 ABCD2:
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)

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

Gene Wiki entry for ABCD2


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences 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 plasmid: ABCD2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ABCD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ABCD2 gene

(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: 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
Subcellular location: Peroxisome membrane; Multi-pass membrane protein
Secondary accessions: B2RAM3 Q13210 Q2M3H9

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UBJ2

    • ABCD2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005155.1  
    ENSEMBL proteins: 
     ENSP00000310688  
    Reactome Protein details: Q9UBJ2
    Human Recombinant Protein Products: 
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    Uscn Proteins for ABCD2

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005777peroxisome IDA--
    GO:0005778peroxisomal membrane TAS--
    GO:0005829cytosol TAS--
    GO:0016021integral to membrane IEA--


    ABCD2 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for ABCD2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ABCD2 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR010509 ABC_Ald_N
     IPR003439 ABC_transporter-like
     IPR003593 AAA+_ATPase
     IPR017940 ABC_transporter_type1
     IPR017871 ABC_transporter_CS

    Graphical View of Domain Structure for InterPro Entry Q9UBJ2

    ProtoNet protein and cluster: Q9UBJ2

    1 Blocks protein family: 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


    Function
    for ABCD2 gene

    (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: 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

    miRNA
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    8/21 QIAGEN miScript miRNA 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 plasmid: ABCD2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10777694
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity IEA--
    GO:0042803protein homodimerization activity IDA--


    ABCD2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Abcd2tm1Apuj for ABCD2
         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


    Pathways & Interactions
    for ABCD2 gene

    (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
    1ABC-family proteins mediated transport
    		ABC-family proteins mediated transport1.00
    		ABCA transporters in lipid homeostasis0.47
    		ABC transporters0.70
    2Nuclear receptors in lipid metabolism and toxicity
    		Nuclear receptors in lipid metabolism and toxicity1.00
    3Peroxisome
    		Peroxisome1.00
    4SLC-mediated transmembrane transport
    		Transmembrane transport of small molecules0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    3        Reactome Pathways for ABCD2
        ABC-family proteins mediated transport
    ABCA transporters in lipid homeostasis
    Transmembrane transport of small molecules


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


    ABCD2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABCD2

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

    5/27 Interacting proteins for ABCD2 (Q9UBJ23 ENSP000003106884) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABCD1P338973, ENSP000002181044I2D: score=4 STRING: ENSP00000218104
    ABCD3P282883, ENSP000003592334I2D: score=3 STRING: ENSP00000359233
    HSD17B4P516593, ENSP000002562164I2D: score=1 STRING: ENSP00000256216
    PEX19P408553, ENSP000003570514I2D: score=4 STRING: ENSP00000357051
    ACSL1P331213I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000038very long-chain fatty acid metabolic process IDA10196381
    GO:0006635fatty acid beta-oxidation IGI--
    GO:0032000positive regulation of fatty acid beta-oxidation IDA10196381
    GO:0042760very long-chain fatty acid catabolic process IGI--
    GO:0055085transmembrane transport TAS--


    ABCD2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ABCD2 gene

    (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

    ABCD2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ABCD2
    5 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about ABCD2 

    Transcripts
    for ABCD2 gene

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 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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    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 plasmid: ABCD2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABCD2 (see all 7)
    OriGene shRNA RFP: ABCD2
    OriGene siRNA: ABCD2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABCD2
    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABCD2

    Additional cDNA sequence: 

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

    2 DOTS entries:

    DT.306517  DT.95149990 

    10 AceView cDNA sequences:

    BP361730 CA396457 BX501529 AJ000327 NM_005164 BI668665 BX642487 BI668632 
    H64389 H64439 

    GeneLoc Exon Structure


    Expression
    for ABCD2 gene

    (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

    ABCD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CACTTTACTT

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

    ABCD2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeBody Subcutaneous White AdiposeAdipose
    AdiposeVisceral White AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ABCD2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABCD2

    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
    for ABCD2 gene

    (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 last universal common ancestor (LUCA).

    Orthologs for ABCD2 gene from 9/29 species (see all 29)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 80(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 CABZ01033309.16
    CABZ01043957.16
    		 --
    		 80(a)
    71(a)
    		 possible ortholog
    1 ↔ 1
    		 Zv9_NA422(1731-16840)
    16(3801335-3814734)
    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_143649.21  NP_651906.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea T02D1.53
    pmp-41    		 ABC transporters3
    Peroxisomal Membrane Protein related1    		 58(a)3
    58.26(n)1
    57.26(a)1    		   IV(17402732-17405778)3
    1785271  NM_070704.31  NP_503105.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT1G543506
    PED36
    		 ABC transporter D family member 1
    		 21(a)
    14(a)
    		 possible ortholog
    possible ortholog
    		 1(20286882-20290401)
    4(18488437-18497136)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 3)    		 ABC transporter, ATP-binding protein, putative, ex...
    ABC transporter, ATP-binding protein, putative, ex...
    (see all 3)    		 18(a)
    18(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 5(421032-431736)
    1(6499706-6506149)
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria yddA6
    		 fused predicted multidrug transporter subunits of ...
    		 17(a)
    		 1 → many
    		 Chromosome(1575681-1577366)


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

    Paralogs
    for ABCD2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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



    Genomic Variants
    for ABCD2 gene

    (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

    10/1102 NCBI SNPs in ABCD2 are shown (see all 1102)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    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--------
    rs1505384411,2
    		--39945768(+) CCCTTC/GTAGCA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ABCD2 (39943835 - 40013843 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for ABCD2
         3 CNVs: 101485 49071 53524
         1 Indel: 45044

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    Disorders / Diseases
    for ABCD2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ABCD2 for disorders           About GeneDecksing

    OMIM gene information: 601081    OMIM disorders: --

    12 diseases for ABCD2:    About MalaCards
    adrenoleukodystrophy    zellweger syndrome    peroxisomal disease    neurodegenerative disease
    protein s deficiency    neurologic diseases    pancreatic cancer    pancreatitis
    cholesterol    tuberculosis    thyroiditis    mycobacterium tuberculosis

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

    2 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: ABCD2 (5 documents)

    Export disorders for ABCD2 gene to outside databases

    Publications
    for ABCD2 gene

    (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 ABCD2 gene, integrated from 9 sources (see all 48):
    (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. (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. (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. (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. (1997)
    5. 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)
    6. 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. (2000)
    7. Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters. (PubMed id 10551832)1, 2 Liu L.X....Aubourg P. (1999)
    8. X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype. (PubMed id 18834860)1, 9 Maier E.M....Berger J. (2008)
    9. Liver X receptor alpha interferes with SREBP1c-mediated Abcd2 expression. Novel cross-talk in gene regulation. (PubMed id 16249184)1, 9 Weinhofer I....Berger J. (2005)
    10. Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy. (PubMed id 10196381)1, 9 Netik A....Berger J. (1999)

    External Searches for ABCD2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ABCD2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 225 HGNC: 66 AceView: ABCD2 Ensembl:ENSG00000173208 euGenes: HUgn225
    ECgene: ABCD2 Kegg: 225 H-InvDB: ABCD2

    Other Databases showing ABCD2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ABCD2 gene

    (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 ABCD2 Pharmacogenomics, SNPs, Pathways
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9UBJ2

    Intellectual Property
    for ABCD2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ABCD2 gene:
    Search GeneIP for patents involving ABCD2

    GeneCards and IP:
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