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

Gene ID: 26874, updated on 27-Feb-2024

Summary

Official Symbol
Abcd2provided by MGI
Official Full Name
ATP-binding cassette, sub-family D member 2provided by MGI
Primary source
MGI:MGI:1349467
See related
Ensembl:ENSMUSG00000055782 AllianceGenome:MGI:1349467
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]
Expression
Biased expression in subcutaneous fat pad adult (RPKM 15.5), genital fat pad adult (RPKM 12.8) and 12 other tissues See more
Orthologs
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Genomic context

See Abcd2 in Genome Data Viewer
Location:
15 E3; 15 46.0 cM
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (91029874..91076013, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (91145871..91192007, complement)

Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene karyopherin alpha 7 (importin alpha 8) pseudogene Neighboring gene STARR-seq mESC enhancer starr_39494 Neighboring gene Hormad1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_39495 Neighboring gene STARR-seq mESC enhancer starr_39496 Neighboring gene regulator of DNA class I crossover intermediates 1 Neighboring gene STARR-seq mESC enhancer starr_39497 Neighboring gene STARR-seq mESC enhancer starr_39498 Neighboring gene solute carrier family 2 (facilitated glucose transporter), member 13 Neighboring gene STARR-seq mESC enhancer starr_39499 Neighboring gene STARR-seq mESC enhancer starr_39500 Neighboring gene STARR-seq mESC enhancer starr_39501 Neighboring gene olfactomedin-like 2A pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (5) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ABC-type transporter activity IEA
Inferred from Electronic Annotation
more info
 
enables ATP binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity ISO
Inferred from Sequence Orthology
more info
 
enables ATPase-coupled transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables ATPase-coupled transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
 
enables fatty acyl-CoA hydrolase activity ISO
Inferred from Sequence Orthology
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables long-chain fatty acid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity ISO
Inferred from Sequence Orthology
more info
 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in fatty acid beta-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in fatty acid beta-oxidation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in fatty acid beta-oxidation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in long-chain fatty acid import into peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in myelin maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cytokine production involved in inflammatory response IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of reactive oxygen species biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neuron projection maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in peroxisome organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of fatty acid beta-oxidation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of fatty acid beta-oxidation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of unsaturated fatty acid biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within response to bacterium IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in very long-chain fatty acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in very long-chain fatty acid catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in very long-chain fatty acid catabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in very long-chain fatty acid metabolic process ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrion HDA PubMed 
is_active_in peroxisomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in peroxisomal membrane ISO
Inferred from Sequence Orthology
more info
 
located_in peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
located_in peroxisome ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
ATP-binding cassette sub-family D member 2
Names
ATP-binding cassette, sub-family D (ALD), member 2
adrenoleukodystrophy related
adrenoleukodystrophy-related protein

NCBI Reference Sequences (RefSeq)

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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_001358967.2NP_001345896.1  ATP-binding cassette sub-family D member 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AC113102
    UniProtKB/TrEMBL
    Q3TU16
    Conserved Domains (1) summary
    cl26602
    Location:74685
    SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
  2. NM_011994.4NP_036124.2  ATP-binding cassette sub-family D member 2 isoform 1

    See identical proteins and their annotated locations for NP_036124.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC113102
    Consensus CDS
    CCDS27760.1
    UniProtKB/Swiss-Prot
    A0A0R4J0U5, Q61285, Q8BQ63, Q8C4B6
    UniProtKB/TrEMBL
    Q3TU16
    Related
    ENSMUSP00000068940.7, ENSMUST00000069511.8
    Conserved Domains (1) summary
    TIGR00954
    Location:74686
    3a01203; Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protein

RNA

  1. NR_177949.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC113102
  2. NR_177950.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC113102

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000081.7 Reference GRCm39 C57BL/6J

    Range
    91029874..91076013 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)