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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RDH12 Gene

protein-coding   GIFtS: 66
GCID: GC14P068168

retinol dehydrogenase 12 (all-trans/9-cis/11-cis)

(Previous name: retinol dehydrogenase 12 (all-trans and 9-cis) )
 Explore 14 diseases affiliated with
RDH12 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for RDH12    

Aliases
for RDH12 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Retinol Dehydrogenase 12 (All-Trans/9-Cis/11-Cis)1 2     LCA32
LCA131 2 5     Retinol Dehydrogenase 122
RP531 2     Retinol Dehydrogenase 12, All-Trans And 9-Cis2
SDR7C21 2     Short Chain Dehydrogenase/Reductase Family 7C, Member 22
All-Trans And 9-Cis Retinol Dehydrogenase2 3     EC 1.1.1.-3
FLJ302731     EC 1.1.18
Retinol Dehydrogenase 12 (All-Trans And 9-Cis)1     EC 1.1.1.1008

External Ids:    HGNC: 199771   Entrez Gene: 1452262   Ensembl: ENSG000001399887   OMIM: 6088305   UniProtKB: Q96NR83   

Export aliases for RDH12 gene to outside databases

Previous GC identifers: GC14P061982 GC14P066177 GC14P066179 GC14P067258 GC14P048338


Summaries
for RDH12 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for RDH12:
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 3 (LCA3).
(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: RDH12_HUMAN, Q96NR8
Function: Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal
reductase. Displays high activity toward 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain
aldehydes. No steroid dehydrogenase activity detected. Might be the key enzyme in the formation of 11-cis-retinal from
11-cis-retinol during regeneration of the cone visual pigments

Gene Wiki entry for RDH12


Genomic Views
for RDH12 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RDH12 gene promoter:
         TBP   MyoD   Tal-1beta   NF-AT   Arnt   AREB6   c-Myb   ITF-2   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RDH12 promoter sequence
   Search SABiosciences Chromatin IP Primers for RDH12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RDH12


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q24.1   Ensembl cytogenetic band:  14q24.1   HGNC cytogenetic band: 14q24.1

RDH12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RDH12 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P068168:  view genomic region     (about GC identifiers)

Start:
 68,168,603 bp from pter      End:
 68,201,169 bp from pter
Size:
 32,567 bases      Orientation:
 plus strand

Proteins
for RDH12 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: RDH12_HUMAN, Q96NR8 (See protein sequence)
Recommended Name: Retinol dehydrogenase 12  
Size: 316 amino acids; 35094 Da
Secondary accessions: B2RDA2 Q8TAW6

Explore the universe of human proteins at neXtProt for RDH12: NX_Q96NR8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96NR8

    • 2 DME Specific Peptides for RDH12 (Q96NR8)
     ARELASRG  DTKSIRAFA 

    RDH12 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_689656.2  
    ENSEMBL proteins: 
     ENSP00000449079   ENSP00000267502   ENSP00000438715  
    Reactome Protein details: Q96NR8
    Human Recombinant Protein Products: 
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    ProSpec Recombinant Protein for RDH12
    Uscn Proteins for RDH12

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA12226107


    RDH12 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for RDH12 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    RDH12 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR002347 Glc/ribitol_DH
     IPR002198 DH_sc/Rdtase_SDR
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q96NR8

    ProtoNet protein and cluster: Q96NR8

    2 Blocks protein families:
    IPB002198 Short-chain dehydrogenase/reductase SDR
    IPB002347 Glucose/ribitol dehydrogenase family signature


    UniProtKB/Swiss-Prot: RDH12_HUMAN, Q96NR8
    Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family


    Function
    for RDH12 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: RDH12_HUMAN, Q96NR8
    Function: Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal
    reductase. Displays high activity toward 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain
    aldehydes. No steroid dehydrogenase activity detected. Might be the key enzyme in the formation of 11-cis-retinal from
    11-cis-retinol during regeneration of the cone visual pigments

    Enzyme Numbers (IUBMB): EC 1.1.1.1002 EC 1.1.12 EC 1.1.1.-1

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate RDH12:
    hsa-miR-19b hsa-miR-508-5p hsa-miR-19a
    SwitchGear 3'UTR luciferase reporter plasmid: RDH12 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0004745retinol dehydrogenase activity IDA12226107


    RDH12 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for RDH12: Rdh12tm1.1Cahb Rdh12tm1Kpal
         3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Rdh12):
     cellular  nervous system  vision/eye 

    RDH12 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for RDH12 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Retinol metabolism
    		Retinol metabolism1.00
    		Retinol metabolism0.95
    2Visual signal transduction- Rods
    		Visual signal transduction- Rods1.00
    		Visual signal transduction- Cones0.39
    3Retinoid metabolism and transport
    		Visual phototransduction0.74
    		Diseases associated with visual transduction0.73
    4Disease
    		Disease1.00
    5Visual Cycle in Retinal Rods
    		Visual Cycle in Retinal Rods1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for RDH12
        Retinol metabolism

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for RDH12
        Visual Cycle in Retinal Rods

    1 GeneGo (Thomson Reuters) Pathway for RDH12
        Retinol metabolism

    3 BioSystems Pathways for RDH12 
        Vitamin A and carotenoid metabolism
    Visual signal transduction- Cones
    Visual signal transduction- Rods

    5        Reactome Pathways for RDH12
        Diseases associated with visual transduction
    Signal Transduction
    The canonical retinoid cycle in rods (twilight vision)
    Visual phototransduction
    Disease


    2         Kegg Pathways  (Kegg details for RDH12):
        Retinol metabolism
    Metabolic pathways


    RDH12 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RDH12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/39 Interacting proteins for RDH12 (Q96NR82, 3 ENSP000002675024) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG482, 3, ENSP000003448184MINT-7383598 MINT-7383581 I2D: score=1 STRING: ENSP00000344818
    PHGDHO431753I2D: score=5 
    ACTBP607093I2D: score=1 
    ACTG1P632613I2D: score=1 
    ADIPOR2Q86V243I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007601visual perception TAS12226107
    GO:0042572retinol metabolic process IDA12226107
    GO:0045494photoreceptor cell maintenance TAS12226107
    GO:0050896response to stimulus IEA--


    RDH12 for ontologies           About GeneDecksing



    Drugs & Compounds
    for RDH12 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RDH12 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for RDH12

    1 HMDB Compound for RDH12    About this table
    CompoundSynonyms CAS #PubMed Ids
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--

    1 DrugBank Compound for RDH12    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Vitamin A[11,12-3H]-Retinol (see all 18)68-26-8target--17512723 17032653 16269441

    1 Novoseek chemical compound relationship for RDH12 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vitamin a 73.1 35 15865448 (4), 18396173 (3), 18326732 (2), 18779497 (2) (see all 10)

    Search CenterWatch for drugs/clinical trials and news about RDH12 

    Transcripts
    for RDH12 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for RDH12 gene: 
    NM_152443.2  

    Unigene Cluster for RDH12:

    Retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
    Hs.415322  [show with all ESTs]
    Unigene Representative Sequence: NM_152443
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000551171(uc001xjz.4) ENST00000547463(uc001xjy.2) ENST00000552873
    ENST00000267502 ENST00000539142

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate RDH12:
    hsa-miR-19b hsa-miR-508-5p hsa-miR-19a
    SwitchGear 3'UTR luciferase reporter plasmid: RDH12 3' UTR sequence
    Inhib. RNA
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    OriGene siRNA: RDH12
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RDH12
    Clone
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    Primer
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    Additional cDNA sequence: 

    AK054835.1 AK315462.1 BC025724.1 DQ067457.1 

    1 DOTS entry:

    DT.100023618 

    24/28 AceView cDNA sequences (see all 28):

    BQ637211 BM681279 BX281994 BM726634 BQ638040 AI262255 AL712772 AK054835 
    BM713279 BI752906 NM_152443 BC025724 AV654688 AI796235 BU174240 BM676394 
    BM716889 AI572831 BP359846 BP362223 BQ638413 BI763967 BQ638468 BQ640276 

    GeneLoc Exon Structure


    Expression
    for RDH12 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RDH12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAGATGGTTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    RDH12 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeOuter Nuclear LayerMature Rod CellsPhotoreceptors, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Photoreceptor-like cells (Generation of retina...)Eye
    Photoreceptor-like cells (Generation of retina...)

    See RDH12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RDH12

    SOURCE GeneReport for Unigene cluster: Hs.415322

    UniProtKB/Swiss-Prot: RDH12_HUMAN, Q96NR8
    Tissue specificity: Widely expressed, mostly in eye, kidney, brain, skeletal muscle and stomach

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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RDH12

    Orthologs
    for RDH12 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RDH12 gene from 8/28 species (see all 28)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves RDH121 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 67.95(n)
    68.91(a)    		   423274  XM_421193.3  XP_421193.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    		 --
    		 66(a)
    65(a)
    		 many ↔ many
    many ↔ many
    		 GL343272.1(1035368-1048563)
    GL343272.1(1094499-1102885)
    zebrafish
    (Danio rerio)    		 Actinopterygii BI473635.12   -- 75.41(n)    BI473635.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG20651 CG2065 58.63(n)
    56.74(a)    		   35707  NM_136465.3  NP_610309.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea dhs-221 Protein DHS-22 45.93(n)
    40.8(a)    		   179940  NM_074169.3  NP_506570.1 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes (YOR246C)4
    ENV91    		 Protein with similarity to oxidoreductases, found in more4
    Env9p1    		 42.78(n)1
    35.83(a)1    		   15(796793-795801)4
    8544201, 4  NP_014889.31  NP_014889.14 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT4G234201 Rossmann-fold NAD(P)-binding domain-containing protein 45.1(n)
    38.24(a)    		   828441  NM_001203882.1  NP_001190811.1 
    rice
    (Oryza sativa)    		 Liliopsida Os09g05703001 hypothetical protein 49.94(n)
    42.86(a)    		   4347912  NM_001070520.1  NP_001063985.1 


    ENSEMBL Gene Tree for RDH12 (if available)
    TreeFam Gene Tree for RDH12 (if available) 

    Paralogs
    for RDH12 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RDH12 gene
    ENSG000002671492  RDH132  DHRS122  WWOX2  DHRSX2  RDH142  DHRS132  RDH112  
    7 SIMAP similar genes for RDH12 using alignment to 1 protein entry:     RDH12_HUMAN:
    RDH11    RDH13    RDH14    DHRS13    WWOX    DHRSX
    DHRS12

    RDH12 for paralogs           About GeneDecksing



    Genomic Variants
    for RDH12 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/564 NCBI SNPs in RDH12 are shown (see all 564)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048944761,2
    		Cpathogenic51445445(+) TGCACC/GCAGGC 2 P A mis10--------
    rs289403131,2
    		Cpathogenic51445456(+) CACCTA/GCGCAG 2 Y C mis10--------
    rs1048944701,2
    		Cpathogenic51447570(+) ACCTCC/TAGAGC 2 Q * stg10--------
    rs1048944721,2
    		Cpathogenic51447612(+) TGTCCC/TCGGTG 2 P S mis10--------
    rs1048944741,2
    		Cpathogenic51448581(+) ATGCGG/TGAGTA 2 G * stg10--------
    rs2021265741,2
    		Cpathogenic51448583(+) CAATGC/TGGGAG 2 A V mis11Minor allele frequency- T:0.00EU 1321
    rs1048944711,2
    		C,pathogenic51450079(+) CTAGCC/TGAGGT 2 R * stg10--------
    rs1048944731,2
    		Cpathogenic51450111(+) GGGCAA/TTGGCA 2 N I mis10--------
    rs289403141,2
    		Cpathogenic51450117(+) CAACAC/TGGGCA 2 T M mis1 ese30--------
    rs287807341,2
    		--48336860(+) TAATCC/GCAGCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RDH12 (68168603 - 68201169 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RDH12: --
    Human Gene Mutation Database (HGMD): RDH12

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for RDH12 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    RDH12 for disorders           About GeneDecksing

    OMIM gene information: 608830   
    OMIM disorders: 612712  
    UniProtKB/Swiss-Prot: RDH12_HUMAN, Q96NR8
  • Defects in RDH12 are the cause of Leber congenital amaurosis type 13 (LCA13) [MIM:612712]. LCA designates a
    • clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal
    recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography.
    LCA represents the most common genetic cause of congenital visual impairment in infants and children
  • Defects in RDH12 are the cause of retinitis pigmentosa type 53 (RP53) [MIM:612712]. RP53 is a retinal
    • dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment
    deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone
    photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their
    condition progresses, they lose their far peripheral visual field and eventually central vision as well

    14 diseases for RDH12:    About MalaCards
    leber congenital amaurosis    leber congenital amaurosis 13    cone-rod dystrophy    retinitis
    retinol binding protein    pigmentary retinopathy    retinitis pigmentosa    fundus dystrophy
    retinal degeneration    coloboma    retinal disease    blindness
    tuberculosis    mycobacterium tuberculosis

    3 diseases from the University of Copenhagen DISEASES database for RDH12:
    Leber congenital amaurosis     Fundus dystrophy     Retinal degeneration

    2 Novoseek disease relationships for RDH12 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lebers congenital amaurosis 96.9 8 17512964 (2), 18326732 (1), 17197551 (1), 15322982 (1) (see all 5)
    retinitis pigmentosa 74.9 9 18779497 (1), 19753312 (1), 15322982 (1), 17512964 (1)

    GeneTests: RDH12
    Leber Congenital Amaurosis

    Genetic Association Database (GAD): RDH12
    Human Genome Epidemiology (HuGE) Navigator: RDH12 (4 documents)

    Export disorders for RDH12 gene to outside databases

    Publications
    for RDH12 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RDH12 gene, integrated from 9 sources (see all 45):
    (articles sorted by number of sources associating them with RDH12)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis. (PubMed id 15322982)1, 2, 4, 9 Perrault I.... Rozet J.-M. (2004)
    2. Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina. (PubMed id 12226107)1, 2, 3 Haeseleer F.... Palczewski K. (2002)
    3. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (2009)
    4. RDH12, a retinol dehydrogenase causing Leber's congenital amaurosis, is also involved in steroid metabolism. (PubMed id 17512723)1, 7 Keller B. and Adamski J. (2007)
    5. Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. (PubMed id 16269441)2, 7 Thompson D.A....Gal A. (2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. (PubMed id 15258582)1, 2 Janecke A.R.... Gal A. (2004)
    9. Biochemical properties of purified human retinol dehydrogenase 12 (RDH12): catalytic efficiency toward retinoids and C9 aldehydes and effects of cellular retinol-binding protein type I (CRBPI) and cellular retinaldehyde-binding protein (CRALBP) on the oxidation and reduction of retinoids. (PubMed id 15865448)1, 9 Belyaeva O.V....Kedishvili N.Y. (2005)
    10. RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression. (PubMed id 17197551)1, 9 Jacobson S.G....Thompson D.A. (2007)

    External Searches for RDH12 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing RDH12 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 145226 HGNC: 19977 AceView: RDH12 Ensembl:ENSG00000139988 euGenes: HUgn145226
    ECgene: RDH12 Kegg: 145226 H-InvDB: RDH12

    Other Databases showing RDH12 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing RDH12 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RDH12 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RDH12

    Intellectual Property
    for RDH12 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for RDH12 gene:
    Search GeneIP for patents involving RDH12

    GeneCards and IP:
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