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FLASH GENE
Symbol ABCD2 contributors: mct/npt/pgu - updated : 10-11-2017
HGNC name ATP-binding cassette, sub-family D (ALD), member 2
HGNC id 66
Location 12q12      Physical location : 39.945.021 - 40.013.843
Synonym name
  • ALD-related gene
  • adrenoleukodystrophy-related protein
  • adrenoleukodystrophy-like 1
  • Synonym symbol(s) ALDRP, ALDL1, ALDR, ABC39, ALD1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head
    STRUCTURE 68.82 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D12S1930 - D12S 874 - ABCD2 - D12S1243E - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 5341 83 740 - 1997 9345306
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   predominantly
    Endocrineparathyroid    
    Nervousbrain   predominantly
    Reproductivemale systemtestis  highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    ReproductiveLeydig cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal hydrophobic region and is targeted to peroxisomes
  • one ATP binding and one transmembrane (TM) domain (6 segments)
  • half transporter structure
  • conjugated GlycoP
    mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies ortholog to murine Abcd2
    homolog to Drosophila CG2316
    homolog to C.elegans T02D1.5
    intraspecies paralog to ABCD1
    Homologene
    FAMILY
  • ABC transporter family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    basic FUNCTION
  • half ABC transporter, traffic ATPase
  • peroxisomal import of fatty acids and/or fattyl acyl-CoA in the organelles
  • overexpression complements the loss of ABCD1, but it is not a major modifier locus for clinical diversity in ALD
  • having the same transporter function as ABCD1 (functional redundancy)
  • specific involvement of ABCD2 and ABCD3 in polyunsaturated fatty acids metabolism
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport , cellular trafficking transport
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    fatty acid metabolism
    a component
  • functional homodimeric or heterodimeric transporter
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • binding to retinoic acid, forskolin (enhancing of promoter of ABCD2)
  • cell & other
    REGULATION
    induced by fenofibrate
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in adrenoleukodystrophy
    Susceptibility
    Variant & Polymorphism
    Candidate gene candidate for a complement group of Zellweger syndrome (OMIM 214100)
    Marker
    Therapy target
    ANIMAL & CELL MODELS