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RDH12 retinol dehydrogenase 12 [ Homo sapiens (human) ]

Gene ID: 145226, updated on 11-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (67701886..67734451)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (61909008..61941569)
105.20220307 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. Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy. Wang J, et al. Invest Ophthalmol Vis Sci, 2022 Aug 2. PMID 35994252, Free PMC Article
  2. Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations. Jin J, et al. Brain Topogr, 2022 Jul. PMID 35006499
  3. 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. Sarkar H, et al. Stem Cell Res, 2021 Jul. PMID 34216980, Free PMC Article
  4. ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM. De Zaeytijd J, et al. Retina, 2021 Jun 1. PMID 34001834
  5. Macula-predominant retinopathy associated with biallelic variants in RDH12. Ba-Abbad R, et al. Ophthalmic Genet, 2020 Dec. PMID 32790509

See all (60) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations.
    Title: Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. Involvement of Oxidative and Endoplasmic Reticulum Stress in RDH12-Related Retinopathies.
    Title: Involvement of Oxidative and Endoplasmic Reticulum Stress in RDH12-Related Retinopathies.
  9. 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.
  10. Macula-predominant retinopathy associated with biallelic variants in RDH12.
    Title: Macula-predominant retinopathy associated with biallelic variants in RDH12.
Submit: New GeneRIF Correction See all GeneRIFs (40)

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)

Genotypes

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_2023_10

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

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