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Abcd2 Gene Detail
Summary
  • Symbol
    Abcd2
  • Name
    ATP-binding cassette, sub-family D (ALD), member 2
  • Synonyms
    ABC39, adrenoleukodystrophy related, ALDL1, ALDR
  • Feature Type
    protein coding gene
  • IDs
    MGI:1349467
    NCBI Gene: 26874
Location & Maps
more
  • Sequence Map
    Chr15:91145884-91191807 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      45924 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    ABCD2, ATP binding cassette subfamily D member 2
  • Vertebrate Orthologs
    8
  • Human Ortholog
    ABCD2, ATP binding cassette subfamily D member 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ABC39, ALDL1, ALDR, ALDRP, hALDR
  • Links
    NCBI Gene ID: 225
    neXtProt AC: NX_Q9UBJ2

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

Human Diseases
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  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    23 phenotypes from 1 allele in 1 genetic background
    20 phenotypes from multigenic genotypes
    31 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Chemically induced (other)
    1
  • Radiation induced
    2
  • Targeted
    6
  • Genomic Mutations
    3 involving Abcd2
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    367 from dbSNP Build 137
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000003566 ATP-binding cassette sub-family D member 2
  • InterPro Domains
    IPR003593 AAA+ ATPase domain
    IPR017871 ABC transporter, conserved site
    IPR003439 ABC transporter-like
    IPR011527 ABC transporter type 1, transmembrane domain
    IPR031239 ATP-binding cassette sub-family D member 2
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
Molecular
Reagents
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  • All nucleic 48
    Genomic 2
    cDNA 45
    Primer pair 1

    Microarray probesets 6
References
more
  • Summaries
    All 47
    Developmental Gene Expression 6
    Diseases 1
    Gene Ontology 6
    Phenotypes 31
  • 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:224542 Gao L, et al., Steroid receptor coactivators 1 and 2 mediate fetal-to-maternal signaling that initiates parturition. J Clin Invest. 2015 Jul 1;125(7):2808-24

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
02/02/2016
MGI 6.02
The Jackson Laboratory