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    Rdh12 retinol dehydrogenase 12 [ Mus musculus (house mouse) ]

    Gene ID: 77974, updated on 27-Nov-2024

    Summary

    Official Symbol
    Rdh12provided by MGI
    Official Full Name
    retinol dehydrogenase 12provided by MGI
    Primary source
    MGI:MGI:1925224
    See related
    Ensembl:ENSMUSG00000021123 AllianceGenome:MGI:1925224
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in the human gene are associated with Leber congenital amaurosis type 13, and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015]
    Expression
    Broad expression in stomach adult (RPKM 6.7), placenta adult (RPKM 6.2) and 17 other tissues See more
    Orthologs
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    Genomic context

    See Rdh12 in Genome Data Viewer
    Location:
    12 C3; 12 35.51 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (79255687..79269438)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (79208913..79222664)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E10761 Neighboring gene STARR-positive B cell enhancer ABC_E11514 Neighboring gene arginase type II Neighboring gene vesicle transport through interaction with t-SNAREs 1B Neighboring gene retinol dehydrogenase 11 Neighboring gene STARR-seq mESC enhancer starr_32594 Neighboring gene zinc finger, FYVE domain containing 26 Neighboring gene STARR-positive B cell enhancer ABC_E920 Neighboring gene STARR-positive B cell enhancer ABC_E4030 Neighboring gene STARR-positive B cell enhancer ABC_E10762 Neighboring gene RAD51 paralog B Neighboring gene STARR-positive B cell enhancer ABC_E3058 Neighboring gene STARR-seq mESC enhancer starr_32597 Neighboring gene STARR-seq mESC enhancer starr_32598 Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:80612777-80612978 Neighboring gene STARR-positive B cell enhancer ABC_E3059 Neighboring gene STARR-seq mESC enhancer starr_32600 Neighboring gene STARR-positive B cell enhancer ABC_E5335 Neighboring gene STARR-positive B cell enhancer ABC_E1155 Neighboring gene STARR-positive B cell enhancer ABC_E5336 Neighboring gene STARR-seq mESC enhancer starr_32602 Neighboring gene STARR-seq mESC enhancer starr_32603 Neighboring gene STARR-seq mESC enhancer starr_32604 Neighboring gene STARR-seq mESC enhancer starr_32605 Neighboring gene STARR-seq mESC enhancer starr_32606 Neighboring gene VISTA enhancer mm1393 Neighboring gene predicted gene, 36048

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • A930033N07Rik

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 11-cis-retinol dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables all-trans-retinol dehydrogenase (NAD+) activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables all-trans-retinol dehydrogenase (NAD+) activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables all-trans-retinol dehydrogenase (NAD+) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables all-trans-retinol dehydrogenase (NADP+) activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables all-trans-retinol dehydrogenase (NADP+) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in cellular detoxification of aldehyde IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular detoxification of aldehyde ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in retinol metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in retinol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinol metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in retinol metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in visual perception ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    retinol dehydrogenase 12
    NP_001300900.1
    NP_084293.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001313971.1NP_001300900.1  retinol dehydrogenase 12 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC154585, BC016204
      Consensus CDS
      CCDS83971.1
      UniProtKB/TrEMBL
      A0A0R4J1M3
      Related
      ENSMUSP00000112543.2, ENSMUST00000122227.8
      Conserved Domains (2) summary
      PRK06197
      Location:39304
      PRK06197; short chain dehydrogenase; Provisional
      cl21454
      Location:39295
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    2. NM_030017.4NP_084293.1  retinol dehydrogenase 12 isoform 1

      See identical proteins and their annotated locations for NP_084293.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC154585, AK039233, AW491970
      Consensus CDS
      CCDS26009.1
      UniProtKB/Swiss-Prot
      Q8BYK4, Q91WA5, Q9D1Y4
      Related
      ENSMUSP00000021548.6, ENSMUST00000021548.12
      Conserved Domains (2) summary
      PRK06197
      Location:39316
      PRK06197; short chain dehydrogenase; Provisional
      cl21454
      Location:39307
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      79255687..79269438
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)