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FLASH GENE
Symbol ALDH1A2 contributors: mct - updated : 21-11-2023
HGNC name aldehyde dehydrogenase 1 family, member A2
HGNC id 15472
Corresponding disease
DIH4 diaphragmatic hernia 4 with cardiovascular defects
Location 15q21.3      Physical location : 58.245.627 - 58.357.906
Synonym name
  • retinaldehyde dehydrogenase
  • retinal dehydrogenase 2
  • retinaldehyde-specific dehydrogenase type 2
    • Synonym symbol(s) RALDH2, MGC26444, RALDH(II), RALDH2-T
    EC.number 1.2.1.3/1.2.1.36
    DNA
    TYPE functioning gene
    STRUCTURE 112.28 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   transcription factor
    text structure GATA site (binding GATA3) in the promoter
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 3398 56.9 518 - 1998 9819382
    - initiation site 1390 46.2 422 - 1998 9819382
    11 - 3142 46.2 422 - 1998 9819382
    RALDH2-TL
    12 - 3284 - 480 - 1998 9819382
    14 - 3483 - 497 - 1998 9819382
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis    Homo sapiens
     male systemprostate   
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatid Homo sapiens
    Reproductivespermatocyte Homo sapiens
    Reproductivespermatogonia Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text
  • optic vesicles (transiently)
  • expressed in the lateral plate mesoderm
    • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • NAD-binding domain containing the motif GXGXXXG
  • two conserved peptide motif
    • mono polymer homomer , tetramer
    HOMOLOGY
    interspecies ortholog to Drosophila CG3752
    ortholog to C.elegans F54D8.3
    homolog to murine Aldh1a2
    intraspecies paralog to ALDH1A1
    paralog to ALDH1A3
    Homologene
    FAMILY aldehyde dehydrogenase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    intracellular,nuclear envelope
    basic FUNCTION
  • oxidizing retinaldehyde involved in retinoic acid biogenesis
  • RDH10 and ALDH1A2 are critical for RA biosynthesis in the embryo
  • ALDH1A2 was predicted to be equally important in RA formation as ALDH1A1
  • ALDH1A2 is involved in the regulation of chemoresistant cancer stem cells (CSCs) properties in neuroblastoma
  • is essential for the synthesis of retinoic acid from vitamin A
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism vitamin
    signaling hormonal
    vitamine A metabolism
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • DADP
  • NAD
    • protein
  • is a direct transcriptional target of WT1 in epicardial cells
  • is a direct target of HOXA13
  • expression of ALDH1A2 gene is known to be regulated by RA itself, suggesting that the main regulation of the ALDH1A2 activity level is transcriptional
  • ALDH1A2 suppresses epithelial ovarian cancer cell proliferation and migration by downregulating STAT3
    • cell & other
    REGULATION
    induced by TAL1 and LMO acting as cofactors for GATA3
    ASSOCIATED DISORDERS
    corresponding disease(s) DIH4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    decreased the proliferation and migration of epithelial ovarian cancer cell lines
    Susceptibility to Tetralogy of Fallot (TOF)
    Variant & Polymorphism other mutations Ala151Ser and Ile157Thr that change non-polar to polar residues at exon 4, is present in TOF patients
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Raldh2-/- embryo mice (Niederreither (99))
  • global elimination of Aldh1a1 and Aldh1a2 genes in mice blocks spermatogenesis but does not appear to affect viability