U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 8854, updated on 7-Jan-2024

    Summary

    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; AllianceGenome:HGNC:15472
    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
    DIH4; 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]
    Expression
    Biased expression in endometrium (RPKM 50.6), testis (RPKM 38.7) and 8 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ALDH1A2 in Genome Data Viewer
    Location:
    15q21.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (57953429..58065711, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (55755851..55868018, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (58245627..58357909, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene GCOM1, MYZAP-POLR2M combined locus Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9464 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6475 Neighboring gene uncharacterized LOC105370834 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:58043407-58044159 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:58044582-58045178 Neighboring gene RNA polymerase II subunit M Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6476 Neighboring gene Sharpr-MPRA regulatory region 1312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9465 Neighboring gene calponin 2 pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr15:58341834-58342511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:58356927-58357446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:58357447-58357966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6477 Neighboring gene ALDH1A2 antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:58402780-58403979 Neighboring gene MT-CO3 pseudogene 23 Neighboring gene MT-ND3 pseudogene 12 Neighboring gene aquaporin 9

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Diaphragmatic hernia 4, with cardiovascular defects
    MedGen: C5774210 OMIM: 620025 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.
    EBI GWAS Catalog
    A genome-wide association study of hypertension and blood pressure in African Americans.
    EBI GWAS Catalog
    Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC26444

    Gene Ontology Provided by GOA

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

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4998..117280
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001206897.2NP_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/TrEMBL
      H0YMG7
      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_003888.4NP_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
      B3KY52, B4DZR2, F5H2Y9, H0YM00, O94788, Q2PJS6, Q8NHQ4, Q9UBR8, Q9UFY0
      UniProtKB/TrEMBL
      H0YMG7
      Related
      ENSP00000249750.4, ENST00000249750.9
      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_170696.3NP_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/TrEMBL
      H0YMG7
      Related
      ENSP00000309623.3, ENST00000347587.7
      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_170697.3NP_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/TrEMBL
      H0YMG7
      Related
      ENSP00000453408.1, ENST00000559517.5
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      57953429..58065711 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      55755851..55868018 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)