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    Abcd2 ATP-binding cassette, sub-family D (ALD), member 2 [ Mus musculus (house mouse) ]

    Gene ID: 26874, updated on 16-Jul-2017
    Official Symbol
    Abcd2provided by MGI
    Official Full Name
    ATP-binding cassette, sub-family D (ALD), member 2provided by MGI
    Primary source
    MGI:MGI:1349467
    See related
    Ensembl:ENSMUSG00000055782
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    ALDR; ABC39; ALDL1; ALDRP
    Summary
    The membrane-associated 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 the human 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]
    Orthologs
    Location:
    15; 15 E3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 15 NC_000081.6 (91145675..91192504, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 15 NC_000081.5 (90976302..91022238, complement)

    Chromosome 15 - NC_000081.6Genomic Context describing neighboring genes Neighboring gene karyopherin alpha 7 (importin alpha 8) pseudogene Neighboring gene predicted gene 7167 Neighboring gene cDNA sequence CN725425 Neighboring gene solute carrier family 2 (facilitated glucose transporter), member 13 Neighboring gene olfactomedin-like 2A pseudogene

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • ABC transporters, organism-specific biosystem (from KEGG)
      ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC transporters, conserved biosystem (from KEGG)
      ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC transporters in lipid homeostasis, organism-specific biosystem (from REACTOME)
      ABC transporters in lipid homeostasis, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
      ABC-family proteins mediated transport, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Nuclear receptors in lipid metabolism and toxicity, organism-specific biosystem (from WikiPathways)
      Nuclear receptors in lipid metabolism and toxicity, organism-specific biosystemNuclear receptors are transcription factors that are activated upon binding to its ligands. Initially, they had been classified as classic endocrine nuclear hormone receptors and orphan receptors. Ho...
    • Peroxisome, organism-specific biosystem (from KEGG)
      Peroxisome, organism-specific biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
    • Peroxisome, conserved biosystem (from KEGG)
      Peroxisome, conserved biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity, coupled to transmembrane movement of substances IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    fatty acid beta-oxidation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    fatty acid beta-oxidation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of fatty acid beta-oxidation ISO
    Inferred from Sequence Orthology
    more info
     
    transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    transport IEA
    Inferred from Electronic Annotation
    more info
     
    very long-chain fatty acid catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    very long-chain fatty acid metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peroxisomal membrane ISO
    Inferred from Sequence Orthology
    more info
     
    peroxisome ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    ATP-binding cassette sub-family D member 2
    Names
    adrenoleukodystrophy related
    adrenoleukodystrophy-related protein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_011994.2NP_036124.2  ATP-binding cassette sub-family D member 2

      See identical proteins and their annotated locations for NP_036124.2

      Status: REVIEWED

      Source sequence(s)
      AK051445, BY127186, CAAA01094423
      Consensus CDS
      CCDS27760.1
      UniProtKB/Swiss-Prot
      Q61285
      UniProtKB/TrEMBL
      A0A0R4J0U5
      Related
      ENSMUSP00000068940.6, ENSMUST00000069511.6
      Conserved Domains (3) summary
      cd03223
      Location:479684
      ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
      TIGR00954
      Location:74686
      3a01203; Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protein
      pfam06472
      Location:80365
      ABC_membrane_2; ABC transporter transmembrane region 2

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000081.6 Reference GRCm38.p4 C57BL/6J

      Range
      91145675..91192504 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006521017.3XP_006521080.1  ATP-binding cassette sub-family D member 2 isoform X1

      Conserved Domains (3) summary
      cd03223
      Location:478683
      ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
      TIGR00954
      Location:74685
      3a01203; Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protein
      pfam06472
      Location:80365
      ABC_membrane_2; ABC transporter transmembrane region 2
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