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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

Gene Tree: Abcd2

Human
homologs
Human Homolog ABCD2, ATP-binding cassette, sub-family D (ALD), member 2
NCBI Gene ID 225
neXtProt AC  NX_Q9UBJ2
Human Synonyms  ABC39, ALDL1, ALDR, ALDRP, hALDR
Human Chr (Location)  12q12; chr12:39551220-39620041 (-)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Radiation induced(1) Targeted(6)
Genomic Mutations involving Abcd2 (1)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Interactions
Abcd2 interacts with 339 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (22 annotations)
Process fatty acid beta-oxidation, positive regulation of fatty acid beta-oxidation, ...
Component integral component of membrane, intracellular membrane-bounded organelle, ...
Function ATPase activity, ATPase activity, coupled to transmembrane movement of substances, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (263)    Tissues (119)    Images (34)
Theiler Stages: 20, 22, 23, 26, 28
Assay TypeResults
RNA in situ 235
Northern blot 24
RT-PCR 4
cDNA source data(45)
External Resources: 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 ModelENSMUSG00000055782 (Evidence)
Entrez Gene26874 (Evidence)
UniGene295456
DFCITC1581326, TC1634018, TC1699613, TC1758647
DoTSDT.60101854, DT.94399836
NIA Mouse Gene IndexU118200
Consensus CDS ProjectCCDS27760.1
International Mouse Knockout Project StatusAbcd2
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 IPR010509 ABC transporter, N-terminal
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:184905 Liu J, et al., The absence of ABCD2 sensitizes mice to disruptions in lipid metabolism by dietary erucic acid. J Lipid Res. 2012 Jun;53(6):1071-9
All references(53)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/19/2014
MGI 5.19
The Jackson Laboratory