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Abcd2
Gene Detail
Symbol

Name
ID
Abcd2
ATP-binding cassette, sub-family D (ALD), member 2
MGI:1349467
Synonyms
ABC39, adrenoleukodystrophy related, ALDL1, ALDR
Feature Type
protein coding gene
Genetic Map
Chromosome 15
46.00 cM, cytoband E-F
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr15:91145884-91191807 bp, - strand
From Ensembl annotation of GRCm38

  45924 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:55873  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 western clawed frog

HCOP human homology predictions: ABCD2
Gene Tree: Abcd2

Human
homologs
ABCD2, ATP-binding cassette, sub-family D (ALD), member 2
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 225
neXtProt AC: NX_Q9UBJ2

Human Synonyms: ABC39, ALDL1, ALDR, ALDRP, hALDR

Human Chr (Location): 12q12; chr12:39550353-39651328 (-)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Radiation induced(1) Targeted(6)
Genomic Mutations involving Abcd2 (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Phenotype Images(2)
Interactions
Abcd2 interacts with 339 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Expression
Literature Summary: (5 records)
Data Summary: Results (263)    Tissues (120)    Images (34)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 235
Northern blot 24
RT-PCR 4
cDNA source data(45)
Other mouse links: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(48) Genomic(2) cDNA(45) Primer pair(1)
Microarray probesets(6)
Other database
links
Ensembl Gene Model ENSMUSG00000055782 (Evidence)
Entrez Gene 26874 (Evidence)
UniGene 295456
DFCI TC1581326, TC1634018, TC1758647, TC1699613
DoTS DT.94399836, DT.60101854
NIA Mouse Gene Index U118200
Consensus CDS Project CCDS27760.1
International Mouse Phenotyping Consortium Status Abcd2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000055782 Ensembl Gene Model | MGI Sequence Detail 45924 C57BL/6J ±  kb
transcript ENSMUST00000069511 Ensembl | MGI Sequence Detail 5527 Not Applicable 
polypeptide ENSMUSP00000068940 Ensembl | MGI Sequence Detail 741 Not Applicable 

For the selected sequences
All sequences(32) RefSeq(4) UniProt(3)
Polymorphisms
SNPs within 2kb(367 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003593 AAA+ ATPase domain
InterPro IPR017871 ABC transporter, conserved site
InterPro IPR003439 ABC transporter-like
InterPro IPR011527 ABC transporter, transmembrane domain, type 1
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
Protein Ontology PR:000003566 ATP-binding cassette sub-family D member 2
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:220286 Liu X, et al., ABCD2 identifies a subclass of peroxisomes in mouse adipose tissue. Biochem Biophys Res Commun. 2015 Jan 2;456(1):129-34
All references(49)

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
06/23/2015
MGI 5.22
The Jackson Laboratory