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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
  • Gene Overview
    MyGene.info: ABCD2
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr15:91145871-91191799 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      45929 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 46.00 cM, cytoband E-F
  • Mapping Data
    2 experiments
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: HomoloGene, HGNC
  • Synonyms
    ABC39, ALDL1, ALDR, ALDRP, hALDR
  • Links
    NCBI Gene ID: 225
    neXtProt AC: NX_Q9UBJ2
    UniProt: Q9UBJ2

  • Chr Location
    12q12; chr12:39530966-39651333 (-)  GRCh38.p7

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
    33 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000055782 Ensembl Gene Model | MGI Sequence Detail 45929 C57BL/6J ±  kb
    transcript ENSMUST00000069511 Ensembl | MGI Sequence Detail 5532 Not Applicable  
    polypeptide ENSMUSP00000068940 Ensembl | MGI Sequence Detail 741 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      369 from dbSNP Build 142
    Protein
    Information
    less
    • 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
      IPR036640 ABC transporter type 1, transmembrane domain superfamily
      IPR031239 ATP-binding cassette sub-family D member 2
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
    Molecular
    Reagents
    less
    • All nucleic 48
      Genomic 2
      cDNA 45
      Primer pair 1

      Microarray probesets 6
    References
    more
    • Summaries
      All 72
      Developmental Gene Expression 6
      Diseases 1
      Gene Ontology 7
      Phenotypes 33
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:233611 Hirata A, et al., Homeobox family Hoxc localization during murine palate formation. Congenit Anom (Kyoto). 2016 Jul;56(4):172-9

    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
    06/05/2018
    MGI 6.12
    The Jackson Laboratory