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

ABCD4 Gene

protein-coding   GIFtS: 64
GCID: GC14M074751

ATP-Binding Cassette, Sub-Family D (ALD), Member 4


(Previous symbol: PXMP1L)
  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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
ATP-Binding Cassette, Sub-Family D (ALD), Member 41 2     P79R2 5
PXMP1L1 2 3 5     69 KDa Peroxisomal ABC-Transporter2
PMP692 3 5     ABC412
Peroxisomal Membrane Protein 692 3     EST3521882
P70R2 3     MAHCJ2
PXMP1-L2 3     ATP-Binding Cassette Sub-Family D Member 42
PMP70-Related Protein2 3     Peroxisomal Membrane Protein 1-Like3

External Ids:    HGNC: 681   Entrez Gene: 58262   Ensembl: ENSG000001196887   OMIM: 6032145   UniProtKB: O146783   
ORGUL members:         
NONCODE14:n405975      

Export aliases for ABCD4 gene to outside databases

Previous GC identifers: GC14M072257 GC14M068547 GC14M072742 GC14M073821 GC14M054918


(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 ABCD4 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, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter
and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of
peroxisome biogenesis. Alternative splicing results in at least two different transcript variants, one which is
protein-coding and one which is probably not protein-coding. (provided by RefSeq, Jul 2008)

GeneCards Summary for ABCD4 Gene: 
ABCD4 (ATP-binding cassette, sub-family D (ALD), member 4) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with ABCD4 include cbij, and methylmalonic aciduria and homocystinuria type cblj, and among its related super-pathways are ABC-family proteins mediated transport. GO annotations related to this gene include ATPase activity, coupled to transmembrane movement of substances and ATP binding. An important paralog of this gene is ABCD3.

UniProtKB/Swiss-Prot: ABCD4_HUMAN, O14678
Function: May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the
lysosomal release of vitamin B12 into the cytoplasm

Gene Wiki entry for ABCD4 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ABCD4 gene promoter:
         Elk-1   AML1a   NRSF form 1   FOXO3   NRSF form 2   GATA-1   N-Myc   FOXO3a   c-Myb   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABCD4 promoter sequence
   Search SABiosciences Chromatin IP Primers for ABCD4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCD4


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

Entrez Gene cytogenetic band: 14q24.3   Ensembl cytogenetic band:  14q24.3   HGNC cytogenetic band: 14q24

ABCD4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCD4 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M074751:  view genomic region     (about GC identifiers)

Start:
74,751,980 bp from pter      End:
74,769,767 bp from pter
Size:
17,788 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: ABCD4_HUMAN, O14678 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family D member 4  
Size: 606 amino acids; 68597 Da
Subunit: Homodimer or heterodimer (Potential)
Subcellular location: Peroxisome membrane; Multi-pass membrane protein
Secondary accessions: Q6IAQ0 Q96E75

Explore the universe of human proteins at neXtProt for ABCD4: NX_O14678

Explore proteomics data for ABCD4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O14678

  • ABCD4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ABCD4 Protein Expression
    REFSEQ proteins: NP_005041.1  
    ENSEMBL proteins: 
     ENSP00000349396   ENSP00000434792   ENSP00000436782   ENSP00000450982   ENSP00000450611  
     ENSP00000450960   ENSP00000451778   ENSP00000432557   ENSP00000434626   ENSP00000450491  
     ENSP00000436527   ENSP00000452430   ENSP00000451521   ENSP00000451457   ENSP00000451993  
     ENSP00000451770   ENSP00000432630   ENSP00000298816  

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    Cloud-Clone Corp. Proteins for ABCD4 

    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:0005777peroxisome IDA14533738
    GO:0005778peroxisomal membrane IEA--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral to membrane NAS9266848

    ABCD4 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ABCD: ATP binding cassette transporters / subfamily D

    5/7 InterPro protein domains (see all 7):
     IPR010509 ABC_Ald_N
     IPR003439 ABC_transporter-like
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase
     IPR017940 ABC_transporter_type1

    Graphical View of Domain Structure for InterPro Entry O14678

    ProtoNet protein and cluster: O14678

    1 Blocks protein domain: IPB010509 ABC transporter

    UniProtKB/Swiss-Prot: ABCD4_HUMAN, O14678
    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


    ABCD4 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: ABCD4_HUMAN, O14678
    Function: May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the
    lysosomal release of vitamin B12 into the cytoplasm

         Genatlas biochemistry entry for ABCD4:
    ATP-binding cassette superfamily,subfamily D (ALD),member 4,ubiquitously expressed,peroxisomal membrane protein
    1-like,transporter,putatively involved in ALDP expression

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005524ATP binding NAS9266848
    GO:0016887ATPase activity ----
    GO:0017111nucleoside-triphosphatase activity ----
    GO:0042626ATPase activity, coupled to transmembrane movement of substances NAS9266848
         
    ABCD4 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for ABCD4:
     Decreased Salmonella enterica   Decreased Wnt reporter activit  Decreased homologous recombina  Synthetic lethal with c-Myc af 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Abcd4):
     behavior/neurological  integument  other 

    ABCD4 for phenotypes           About GeneDecksing

    Animal Models:
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    Inhib. RNA
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    (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 ABCD4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1ABC-family proteins mediated transport
    ABC transporters0.70
    2Peroxisome
    Peroxisome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2         Kegg Pathways  (Kegg details for ABCD4):
        ABC transporters
    Peroxisome


    ABCD4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABCD4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/11 Interacting proteins for ABCD4 (O146783 ENSP000003493964) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PEA15Q151213, ENSP000003536604I2D: score=3 STRING: ENSP00000353660
    TMEM66Q96BY93, ENSP000002562554I2D: score=3 STRING: ENSP00000256255
    XRCC6P129563I2D: score=4 
    DLEU1O432613I2D: score=2 
    ABCA2ENSP000003441554STRING: ENSP00000344155
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0009235cobalamin metabolic process IMP--
    GO:0055085transmembrane transport NAS9266848

    ABCD4 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

    ABCD4 for compounds           About GeneDecksing

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

    Browse Tocris compounds for ABCD4

    1 Novoseek inferred chemical compound relationship for ABCD4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fatty acid 24.9 1 16223892 (1)

    Search CenterWatch for drugs/clinical trials and news about ABCD4

    (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 ABCD4 gene (4 alternative transcripts): 
    NM_005050.3  NM_020324.1  NM_020325.1  NM_020326.2  

    Unigene Cluster for ABCD4:

    ATP-binding cassette, sub-family D (ALD), member 4
    Hs.94395  [show with all ESTs]
    Unigene Representative Sequence: AK125109
    18/29 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 29):
    ENST00000356924(uc001xpr.2 uc001xps.2 uc010tur.2 uc001xpu.2 uc001xpv.2)
    ENST00000481348 ENST00000481935 ENST00000555904 ENST00000553486 ENST00000556517
    ENST00000465085 ENST00000553745 ENST00000474270 ENST00000484380 ENST00000496015
    ENST00000466822 ENST00000557554 ENST00000469672 ENST00000556119 ENST00000460308
    ENST00000553998 ENST00000555617
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    hsa-miR-600 hsa-miR-522 hsa-miR-548c-3p hsa-miR-224*
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    Additional mRNA sequence: 

    AF009746.1 AK125109.1 AK291332.1 AK297934.1 AK308382.1 BC012815.2 BT007412.1 BX248053.1 
    CR457104.1 NR_003256.2 U66690.1 

    24/27 DOTS entries (see all 27):

    DT.92431120  DT.115745  DT.95302301  DT.97780583  DT.95289825  DT.449343  DT.95289835  DT.97782716 
    DT.97795470  DT.97845420  DT.100773444  DT.100811176  DT.115748  DT.120749249  DT.120749279  DT.120749280 
    DT.100695826  DT.120749248  DT.91653617  DT.100811180  DT.120749237  DT.120749247  DT.92431125  DT.92437655 

    24/231 AceView cDNA sequences (see all 231):

    BQ013416 BQ183989 AW339051 AI564438 AL596885 BI916327 CR593192 AA485326 
    BQ899300 BX248053 CB215970 AW237308 BQ893869 BM667379 AA640090 AA907773 
    CA867306 AI272299 BM702194 AI559801 NM_020326 BI715158 BF062605 T31528 

    GeneLoc Exon Structure

    5/20 Alternative Splicing Database (ASD) splice patterns (SP) for ABCD4 (see all 20)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^
    SP1:                                                        -     -                 -     -     -                       -           -                           
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 11 ^ 12a · 12b ^ 13a · 13b · 13c · 13d · 13e ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b · 20c · 20d · 20e · 20f
    SP1:                                                                    -           -     -                       -                                 
    SP2:                                            -                       -           -     -                       -                                 
    SP3:                                                                    -                 -                                                         
    SP4:                    -                             -     -           -           -     -                                                         
    SP5:                                                                    -           -     -                                                         


    ECgene alternative splicing isoforms for ABCD4

    (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

    ABCD4 expression in normal human tissues (normalized intensities)      ABCD4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGCTAAAG
    ABCD4 Expression
    About this image


    ABCD4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Breast (Uncategorized)    fully expand to see all 2 entries
             breast ductal cells   
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot

    See ABCD4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABCD4

    SOURCE GeneReport for Unigene cluster: Hs.94395

    UniProtKB/Swiss-Prot: ABCD4_HUMAN, O14678
    Tissue specificity: Ubiquitous

        SABiosciences Expression via Pathway-Focused PCR Array including ABCD4: 
              Drug Transporters in human mouse rat

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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 ABCD4 gene from 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abcd41 , 5 ATP-binding cassette, sub-family D (ALD), member 41, 5 88.17(n)1
    89.6(a)1
      12 (39.30 cM)5
    193001  NM_008992.21  NP_033018.21 
     846025315 
    chicken
    (Gallus gallus)
    Aves ABCD41 ATP-binding cassette, sub-family D (ALD), member 4 74.94(n)
    77.36(a)
      423349  XM_421264.3  XP_421264.3 
    lizard
    (Anolis carolinensis)
    Reptilia ABCD46
    Uncharacterized protein
    74(a)
    1 ↔ 1
    1(23514098-23534419)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.186952 Transcribed sequence with moderate similarity to protein more 77.13(n)    BI984210.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C54G10.33
    pmp-31
    peroxisomal membrane protein (PMP70)3
    Protein PMP-31
    41(a)3
    47.55(n)1
    42.15(a)1
      V(14649823-14655488)3
    1799681  NM_074219.21  NP_506620.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PXA16
    Subunit of a heterodimeric peroxisomal ATP-binding...
    17(a)
    1 → many
    XVI(273255-275867)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G543501 ABC transporter D family member 2 42.38(n)
    31.7(a)
      841876  NM_104313.3  NP_175837.2 
    rice
    (Oryza sativa)
    Liliopsida Os01g02187001 hypothetical protein 42.45(n)
    33.69(a)
      4324587  NM_001048948.1  NP_001042413.1 


    ENSEMBL Gene Tree for ABCD4 (if available)
    TreeFam Gene Tree for ABCD4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABCD4 gene
    ABCD32  ABCD12  ABCD22  
    2 SIMAP similar genes for ABCD4 using alignment to 11 protein entries:     ABCD4_HUMAN (see all proteins):
    ABCD1    ABCD3

    ABCD4 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

    10/669 SNPs in ABCD4 are shown (see all 669)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2017770561,2,4
    CMethylmalonic aciduria and homocystinuria type cblJ (MAHCJ)4 pathogenic155751078(+) TGAGGT/CAGATG 3 /Y /C nc-transcript-variantmis11Minor allele frequency- C:0.00EU 1321
    rs360888011,2
    C--54934830(+) AAATC-/TTTTTTT 2 -- int10--------
    rs678227761,2
    C--54937515(+) ACAGA-/TTTTTT 2 -- us2k11Minor allele frequency- T:0.00NA 2
    rs65741711,2
    C,H--55743327(+) ACTGGG/AAACCA 2 -- ds500117Minor allele frequency- A:0.01NA WA CSA EA 519
    rs1385678451,2
    C--55743351(+) GAAGCA/GGCAAA 2 -- ds50010--------
    rs1921392741,2
    --55743379(+) AGGAAC/TGAATT 2 -- ds50010--------
    rs1845748871,2
    --55743441(+) CAGCTA/GCTTGA 2 -- ds50010--------
    rs761358671,2
    C,F--55743507(+) TGATTG/ATGCCA 2 -- ds50011Minor allele frequency- A:0.05EA 120
    rs339448681,2
    C--55743569(+) AAATA-/A/    
       AAGTA
    ATAAA
    2 -- ds50010--------
    rs560530791,2
    C--55743570(+) AATAA-/G/    
       GTAAA
    TAAAA
    2 -- ds50011NA 2

    HapMap Linkage Disequilibrium report for ABCD4 (74751980 - 74769767 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ABCD4:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv902096CNV Gain21882294
    nsv902097CNV Gain21882294


    Human Gene Mutation Database (HGMD): ABCD4
    SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 603214    OMIM disorders: --

    UniProtKB/Swiss-Prot: ABCD4_HUMAN, O14678
  • Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) [MIM:614857]: A disorder of cobalamin
    metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin
    (MeCbl). Clinical features include feeding difficulties, poor growth, hypotonia, lethargy, anemia, and
    developmental delay. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 12 diseases for ABCD4:    About MalaCards
    cbij    methylmalonic aciduria and homocystinuria type cblj    peroxisomal disease    disorders of intracellular cobalamin metabolism
    adrenoleukodystrophy    homocystinuria    intrahepatic cholestasis    cholestasis
    hypotonia    ataxia    tuberculosis    anemia

    1 disease from the University of Copenhagen DISEASES database for ABCD4:
    Adrenoleukodystrophy

    ABCD4 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ABCD4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adrenoleukodystrophy 90 4 14533738 (2), 16223892 (1), 15800013 (1)

    Genetic Association Database (GAD): ABCD4
    Human Genome Epidemiology (HuGE) Navigator: ABCD4 (2 documents)

    Export disorders for ABCD4 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 ABCD4 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with ABCD4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Primary structure of human PMP69, a putative peroxisomal ABC- transporter. (PubMed id 9266848)1, 2, 3, 9 Holzinger A.... Roscher A.A. (1997)
    2. Identification of a fourth half ABC transporter in the human peroxisomal membrane. (PubMed id 9302272)1, 2, 3 Shani N.... Valle D. (1997)
    3. Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter. (PubMed id 9599016)1, 2, 9 Holzinger A.... Kammerer S. (1998)
    4. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. (PubMed id 22922874)1, 2 Coelho D....Baumgartner M.R. (2012)
    5. 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. (2009)
    6. Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8. (PubMed id 12111378)1, 2 Iida A.... Nakamura Y. (2002)
    7. Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. (PubMed id 15800013)1, 9 Asheuer M....Aubourg P. (2005)
    8. Targeting of the human adrenoleukodystrophy protein to the peroxisomal membrane by an internal region containing a highly conserved motif. (PubMed id 14533738)1, 9 Landgraf P....Holzinger A. (2003)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Two novel mutations in African and Asian children wit h progressive familial intrahepatic cholestasis type 3. (PubMed id 21514256)1 Giovannoni I....Francalanci P. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 5826 HGNC: 68 AceView: ABCD4 Ensembl:ENSG00000119688 euGenes: HUgn5826
    ECgene: ABCD4 Kegg: 5826 H-InvDB: ABCD4

    (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 ABCD4 Pharmacogenomics, SNPs, Pathways
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=O14678

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ABCD4 gene:
    Search GeneIP for patents involving ABCD4

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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