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

Gene ID: 26874, updated on 8-May-2016
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; Sciurognathi; 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 E-F
Exon count:
10
Annotation release Status Assembly Chr Location
105 current GRCm38.p3 (GCF_000001635.23) 15 NC_000081.6 (91145871..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 predicted gene, 41382 Neighboring gene solute carrier family 2 (facilitated glucose transporter), member 13 Neighboring gene olfactomedin-like 2A pseudogene

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
 
intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
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, ENSMUST00000069511
    Conserved Domains (3) summary
    cd03223
    Location:479684
    ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
    pfam06472
    Location:78365
    ABC_membrane_2; ABC transporter transmembrane region 2
    TIGR00954
    Location:74686
    3a01203; Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protein

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 105 details...

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

Reference GRCm38.p3 C57BL/6J

Genomic

  1. NC_000081.6 Reference GRCm38.p3 C57BL/6J

    Range
    91145871..91192504 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006521017.2XP_006521080.1  

    Conserved Domains (3) summary
    cd03223
    Location:478683
    ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
    pfam06472
    Location:78365
    ABC_membrane_2; ABC transporter transmembrane region 2
    TIGR00954
    Location:74685
    3a01203; Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protein

Alternate Mm_Celera

Genomic

  1. AC_000037.1 Alternate Mm_Celera

    Range
    93253156..93299066 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)