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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
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