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Abcd2 Gene Detail
 Symbol
Name
ID
Abcd2
ATP-binding cassette, sub-family D (ALD), member 2
MGI:1349467


Nomenclature History
Synonyms ABC39, adrenoleukodystrophy related, ALDL1, ALDR
Genetic Map
Chromosome 15
cytoband E-F
 
Mapping data( 2)
Sequence Map
Chr15:90976315-91022238 bp, - strand
(From Ensembl annotation of NCBI Build 37)
Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; dog, domestic; rat    (Mammalian Orthology)
TreeFam: TF105204
Sequences
Representative Sequences Length Strain/Species Flank
genomic ENSMUSG00000055782 Ensembl Gene Model | MGI Sequence Detail 45924 C57BL/6J ± Kb
transcript NM_011994 RefSeq | MGI Sequence Detail 5540 C57BL/6
polypeptide Q61285 UniProt | EBI | MGI Sequence Detail 741 Not Applicable
For the selected sequences
All sequences(26)
Alleles
and
phenotypes
All alleles(1) : Targeted, knock-out(1)
Mice homozygous for a disruption in this gene exhibit a late-onset cerebellar and sensory ataxia, loss of Purkinje cells, dorsal root ganglia cell degeneration, axonal degeneration in the spinal cord, and an accumulation of very long chain fatty acids.
Polymorphisms SNPs within 2kb(294 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process transport
Component integral to membrane, membrane...
Function ATP binding, ATPase activity...
External Resources: FuncBase
Expression Literature Summary: (2 records)
Data Summary: Assays (8)    Results (28)    Tissues (13)
Theiler Stages: 20,22,26,28
  Assay Type Assays   Results
      RT-PCR 1   4
      Northern blot 7   24
cDNA source data(42)
External Resources: Allen Brain Atlas  GENSAT  GEO  ArrayExpress 
Molecular
reagents
All nucleic(45) Genomic(2) cDNA(42) Primer pair(1)
Microarray probesets(2)
Other database
links
Ensembl Gene Model ENSMUSG00000055782
DoTS DT.60101854, DT.94399836
Consensus CDS Project CCDS27760.1
UniGene 295456
DFCI TC1581326, TC1634018, TC1699613, TC1758647
NIA Mouse Gene Index U118200
Entrez Gene 26874
International Mouse Knockout Project Status Abcd2
Protein
domains
InterPro ID Description
IPR003439 ABC transporter-like
IPR003593 ATPase, AAA+ type, core
IPR010509 ABC transporter, N-terminal
IPR017871 ABC transporter, conserved site
IPR017940 ABC transporter integral membrane type 1
Graphical View of Protein Domain Structure
References
(Earliest) J:41547 Lombard-Platet G et al., "A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern." Proc Natl Acad Sci U S A 1996 Feb 6;93(3):1265-9
(Latest) J:146101 Singh J et al., "Silencing of Abcd1 and Abcd2 genes sensitizes astrocytes for inflammation: implication for X-adrenoleukodystrophy." J Lipid Res 2009 Jan;50(1):135-47
All references(18)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/06/2010
MGI_4.32
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