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    ALDH1A2 aldehyde dehydrogenase 1 family member A2 [ Homo sapiens (human) ]

    Gene ID: 8854, updated on 22-Apr-2017
    Official Symbol
    ALDH1A2provided by HGNC
    Official Full Name
    aldehyde dehydrogenase 1 family member A2provided by HGNC
    Primary source
    HGNC:HGNC:15472
    See related
    Ensembl:ENSG00000128918 MIM:603687; Vega:OTTHUMG00000132624
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RALDH2; RALDH2-T; RALDH(II)
    Summary
    This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]
    Orthologs
    Location:
    15q21.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 15 NC_000015.10 (57953424..58065923, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (58245622..58358121, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370834 Neighboring gene uncharacterized LOC107984724 Neighboring gene calponin 2 pseudogene Neighboring gene uncharacterized LOC101928635 Neighboring gene mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 23 Neighboring gene mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 23 Neighboring gene aquaporin 9

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.
    NHGRI GWA Catalog
    A genome-wide association study of hypertension and blood pressure in African Americans.
    NHGRI GWA Catalog
    Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC26444

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3-chloroallyl aldehyde dehydrogenase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    aldehyde dehydrogenase (NAD) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    retinal binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    retinal dehydrogenase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    retinal dehydrogenase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    9-cis-retinoic acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    anterior/posterior pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    blood vessel development IEA
    Inferred from Electronic Annotation
    more info
     
    cardiac muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    determination of bilateral symmetry IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic digestive tract development IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic forelimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    face development IEA
    Inferred from Electronic Annotation
    more info
     
    heart morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    hindbrain development IEA
    Inferred from Electronic Annotation
    more info
     
    kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    liver development IEA
    Inferred from Electronic Annotation
    more info
     
    lung development IEA
    Inferred from Electronic Annotation
    more info
     
    midgut development IEA
    Inferred from Electronic Annotation
    more info
     
    morphogenesis of embryonic epithelium IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neural crest cell development IEA
    Inferred from Electronic Annotation
    more info
     
    neural tube development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    pancreas development IEA
    Inferred from Electronic Annotation
    more info
     
    pituitary gland development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    proximal/distal pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of endothelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    response to cytokine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    response to vitamin A IEA
    Inferred from Electronic Annotation
    more info
     
    retinal metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    retinoic acid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    retinoic acid receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    retinol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    ureter maturation IEA
    Inferred from Electronic Annotation
    more info
     
    vitamin A metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    retinal dehydrogenase 2
    Names
    RALDH 2
    retinaldehyde-specific dehydrogenase type 2
    NP_001193826.1
    NP_003879.2
    NP_733797.1
    NP_733798.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012259.1 RefSeqGene

      Range
      4786..117285
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001206897.1NP_001193826.1  retinal dehydrogenase 2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AA447978, AB015226, AK303057, BC030589, DB458699
      Consensus CDS
      CCDS55968.1
      UniProtKB/Swiss-Prot
      O94788
      Related
      ENSP00000438296.1, ENST00000537372.5
      Conserved Domains (1) summary
      cd07141
      Location:14491
      ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like
    2. NM_003888.3NP_003879.2  retinal dehydrogenase 2 isoform 1

      See identical proteins and their annotated locations for NP_003879.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA447978, AB015226, BC030589, DB458699
      Consensus CDS
      CCDS10163.1
      UniProtKB/Swiss-Prot
      O94788
      Related
      ENSP00000249750.4, OTTHUMP00000163462, ENST00000249750.8, OTTHUMT00000255869
      Conserved Domains (1) summary
      cd07141
      Location:32512
      ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like
    3. NM_170696.2NP_733797.1  retinal dehydrogenase 2 isoform 2

      See identical proteins and their annotated locations for NP_733797.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AA447978, BC030589, DB458699
      Consensus CDS
      CCDS10164.1
      UniProtKB/Swiss-Prot
      O94788
      Related
      ENSP00000309623.3, OTTHUMP00000163463, ENST00000347587.7, OTTHUMT00000255870
      Conserved Domains (1) summary
      cd07141
      Location:32474
      ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like
    4. NM_170697.2NP_733798.1  retinal dehydrogenase 2 isoform 3

      See identical proteins and their annotated locations for NP_733798.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AA447978, AB015226, BC030589, BX443600
      Consensus CDS
      CCDS45266.1
      UniProtKB/Swiss-Prot
      O94788
      Related
      ENSP00000453408.1, OTTHUMP00000247387, ENST00000559517.5, OTTHUMT00000416310
      Conserved Domains (1) summary
      cd07141
      Location:1416
      ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p7 Primary Assembly

      Range
      57953424..58065923 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      58363582..58476117 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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