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    RDH12 retinol dehydrogenase 12 [ Homo sapiens (human) ]

    Gene ID: 145226, updated on 9-Dec-2024

    Summary

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    Official Symbol
    RDH12provided by HGNC
    Official Full Name
    retinol dehydrogenase 12provided by HGNC
    Primary source
    HGNC:HGNC:19977
    See related
    Ensembl:ENSG00000139988 MIM:608830; AllianceGenome:HGNC:19977
    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
    RP53; LCA13; SDR7C2
    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 this gene are a cause of Leber congenital amaurosis type 13 and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015]
    Expression
    Biased expression in skin (RPKM 21.6), gall bladder (RPKM 10.8) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RDH12 in Genome Data Viewer
    Location:
    14q24.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (67701886..67734451)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (61909008..61941569)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (68168603..68201168)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene gephyrin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5861 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5863 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5865 Neighboring gene Sharpr-MPRA regulatory region 4541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5866 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:68161998-68162634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8585 Neighboring gene RNA, 5S ribosomal pseudogene 386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:68195910-68196540 Neighboring gene RNA, 7SL, cytoplasmic 369, pseudogene Neighboring gene vesicle transport through interaction with t-SNAREs 1B Neighboring gene DnaJ heat shock protein family (Hsp40) member C9 pseudogene Neighboring gene ribosomal protein L21 pseudogene 9 Neighboring gene retinol dehydrogenase 11 Neighboring gene RNA, 7SL, cytoplasmic 213, pseudogene Neighboring gene zinc finger FYVE-type containing 26

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation. Kuniyoshi K, et al. Doc Ophthalmol, 2014 Jun. PMID 24752437
    2. Late-onset CORD in a patient with RDH12 mutations identified by whole exome sequencing. Xin W, et al. Ophthalmic Genet, 2016 Sep. PMID 26848971
    3. The phenotype of early-onset retinal degeneration in persons with RDH12 mutations. Schuster A, et al. Invest Ophthalmol Vis Sci, 2007 Apr. PMID 17389517
    4. Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis. Li Y, et al. J Zhejiang Univ Sci B, 2017 May. PMID 28471114, Free PMC Article
    5. Peripapillary sparing in RDH12-associated Leber congenital amaurosis. Garg A, et al. Ophthalmic Genet, 2017 Dec. PMID 28513254, Free PMC Article

    See all (67) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RDH12 allows cone photoreceptors to regenerate opsin visual pigments from a chromophore precursor to escape competition with rods.
      Title: RDH12 allows cone photoreceptors to regenerate opsin visual pigments from a chromophore precursor to escape competition with rods.
    2. Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.
      Title: Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.
    3. Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations.
      Title: Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations.
    4. Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.
      Title: Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.
    5. Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations.
      Title: Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations.
    6. Investigation of genotype-phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing.
      Title: Investigation of genotype-phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing.
    7. Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.
      Title: Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.
    8. ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM.
      Title: ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM.
    9. Involvement of Oxidative and Endoplasmic Reticulum Stress in RDH12-Related Retinopathies.
      Title: Involvement of Oxidative and Endoplasmic Reticulum Stress in RDH12-Related Retinopathies.
    10. Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants.
      Title: Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants.
    Submit: New GeneRIF Correction See all GeneRIFs (41)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ30273

    Gene Ontology Provided by GOA

    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 (NADP+) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables all-trans-retinol dehydrogenase (NADP+) activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular detoxification of aldehyde IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in photoreceptor cell maintenance TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in retinoid metabolic process TAS
    Traceable Author Statement
    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 visual perception IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in visual perception TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in photoreceptor inner segment ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in photoreceptor inner segment membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    retinol dehydrogenase 12
    Names
    all-trans and 9-cis retinol dehydrogenase
    retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
    retinol dehydrogenase 12, all-trans and 9-cis
    short chain dehydrogenase/reductase family 7C member 2
    NP_689656.2
    XP_047286921.1
    XP_054231405.1
    XP_054231406.1

    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.

    Genomic

    1. NG_008321.1 RefSeqGene

      Range
      5001..37566
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_152443.3 → NP_689656.2  retinol dehydrogenase 12

      See identical proteins and their annotated locations for NP_689656.2

      Status: REVIEWED

      Source sequence(s)
      AK315462, BC025724
      Consensus CDS
      CCDS9787.1
      UniProtKB/Swiss-Prot
      B2RDA2, Q8TAW6, Q96NR8
      UniProtKB/TrEMBL
      A0A0S2Z613
      Related
      ENSP00000449079.1, ENST00000551171.6
      Conserved Domains (1) summary
      cd09807
      Location:39 → 307
      retinol-DH_like_SDR_c; retinol dehydrogenases (retinol-DHs), classical (c) SDRs

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      67701886..67734451
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430965.1 → XP_047286921.1  retinol dehydrogenase 12 isoform X1

      UniProtKB/Swiss-Prot
      B2RDA2, Q8TAW6, Q96NR8
      UniProtKB/TrEMBL
      A0A0S2Z613

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      61909008..61941569
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375430.1 → XP_054231405.1  retinol dehydrogenase 12 isoform X1

      UniProtKB/Swiss-Prot
      B2RDA2, Q8TAW6, Q96NR8
      UniProtKB/TrEMBL
      A0A0S2Z613

    2. XM_054375431.1 → XP_054231406.1  retinol dehydrogenase 12 isoform X1

      UniProtKB/Swiss-Prot
      B2RDA2, Q8TAW6, Q96NR8
      UniProtKB/TrEMBL
      A0A0S2Z613
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96NR8.3 GenPept UniProtKB/Swiss-Prot:Q96NR8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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