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FLASH GENE
Symbol ABCA2 contributors: - updated : 25-11-2005
HGNC name ATP-binding cassette, sub-family A (ABC1), member 2
HGNC id 32
Location 9q34.3      Physical location : 139.901.685 - 139.923.374
Synonym name murine ATP binding cassette transporter 2
Synonym symbol(s) ABC2, KIAA1062
DNA
TYPE functioning gene
STRUCTURE 3.00 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site
text structure
  • transcription factor binding sites
  • two first exons (1B that located 699 bp upstream of the previously characterized first exon, 1A), alterantively spliced
  • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text for exon 1B, the new amino terminus encoded by the first exon is 52 amino acids and for exon 1A, 22 amino acids
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing 8172 - 2436 - Ile
  • exon 1A
  • co-localize with lysosome-associated membrane proteins-1 and -2 (LAMP-1 and -2)
  • - splicing 8164 - 2466 highest expression in peripheral blood leukocytes Ile
  • exon 1B
  • co-localize with lysosome-associated membrane proteins-1 and -2 (LAMP-1 and -2)
  • EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   moderately
    Cardiovascularheart   moderately
    Endocrinepancreas   moderately
    Nervousbrain   highly
    Reproductivemale systemprostate  moderately
    Respiratorylung   moderately
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Lymphoid    
    cell lineage
    cell lines tumor cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two ATP binding
  • two transmembrane (2TM) domains (2 x 6 segments)
  • lipocalin signature motif
  • HOMOLOGY
    interspecies homolog to murine Abc2
    intraspecies homolog to ABCA1,ABCA7
    Homologene
    FAMILY ATP binding cassette superfamily, subfamily A
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • ABC transporter, traffic ATPase, involved in drug resistance, macrophage lipid metabolism and neural development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text
  • neural development
  • small molecule transport
  • PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS