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RDH12 Gene

protein-coding   GIFtS: 69
GCID: GC14P068168

Retinol Dehydrogenase 12 (All-Trans/9-Cis/11-Cis)

(Previous name: retinol dehydrogenase 12 (all-trans and 9-cis))
  See RDH12-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Retinol Dehydrogenase 12 (All-Trans/9-Cis/11-Cis)1 2     SDR7C22
All-Trans And 9-Cis Retinol Dehydrogenase2 3     Retinol Dehydrogenase 122
LCA132 5     Retinol Dehydrogenase 12, All-Trans And 9-Cis2
Member 21     Short Chain Dehydrogenase/Reductase Family 7C, Member 22
Retinol Dehydrogenase 12 (All-Trans And 9-Cis)1     EC 1.1.1.-3
Short Chain Dehydrogenase/Reductase Family 7C1     EC 1.1.18
LCA32     EC 1.1.1.1008
RP532     

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RDH12 Gene:
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)

GeneCards Summary for RDH12 Gene:
RDH12 (retinol dehydrogenase 12 (all-trans/9-cis/11-cis)) is a protein-coding gene. Diseases associated with RDH12 include rdh12-related leber congenital amaurosis, and rdh12-related retinitis pigmentosa. GO annotations related to this gene include retinol dehydrogenase activity. An important paralog of this gene is RDH13.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NC_018925.2  NT_026437.13  
Regulatory elements:
   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 plasmidRDH12 promoter sequence
   Search Chromatin IP Primers for RDH12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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

Explore proteomics data for RDH12 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys103
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for RDH12 (Q96NR8)
     ARELASRG  DTKSIRAFA 


    See RDH12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_689656.2  
    ENSEMBL proteins: 
     ENSP00000449079   ENSP00000267502   ENSP00000438715  
    Reactome Protein details: Q96NR8

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SDRC2: Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2

    3 InterPro protein domains:
     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 domains:
    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


    Find genes that share domains with RDH12           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004745retinol dehydrogenase activity IDA12226107
    GO:0005515protein binding IPI--
    GO:0016491oxidoreductase activity ----
    GO:0050662coenzyme binding ----
         
    Find genes that share ontologies with RDH12           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rdh12):
     cellular  nervous system  vision/eye 

    Find genes that share phenotypes with RDH12           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for RDH12: Rdh12tm1.1Cahb Rdh12tm1Kpal

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RDH12
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    hsa-miR-19b hsa-miR-508-5p hsa-miR-19a
    SwitchGear 3'UTR luciferase reporter plasmidRDH12 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular2
    cytosol1
    endoplasmic reticulum1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA12226107
    GO:0060342photoreceptor inner segment membrane TAS--

    Find genes that share ontologies with RDH12           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for RDH12 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1The phototransduction cascade
    Visual signal transduction- Rods0.51
    Visual signal transduction- Cones0.39
    2Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    3Signaling by GPCR
    Signal Transduction0.58
    4the visual cycle I (vertebrates)
    The canonical retinoid cycle in rods (twilight vision)0.44
    5Metabolism
    Metabolic pathways0.38


    Find genes that share SuperPaths with RDH12           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe 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


    1 Reactome Pathway for RDH12
        The canonical retinoid cycle in rods (twilight vision)


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RDH12
    Interactions:

        Search GeneGlobe Interaction Network for RDH12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for RDH12 (Q96NR81, 2, 3 ENSP000002675024) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG481, 2, 3, ENSP000003448184EBI-3916363,EBI-3390054 MINT-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): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0007601visual perception TAS12226107
    GO:0007603phototransduction, visible light TAS--
    GO:0008152metabolic process ----
    GO:0042572retinol metabolic process IDA12226107

    Find genes that share ontologies with RDH12           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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 inferred 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)



    Find genes that share compounds with RDH12           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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    hsa-miR-19b hsa-miR-508-5p hsa-miR-19a
    SwitchGear 3'UTR luciferase reporter plasmidRDH12 3' UTR sequence
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    Additional mRNA sequence: 

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

    1 DOTS entry:

    DT.100023618 

    Selected AceView cDNA sequences (see all 28):

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

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RDH12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGATGGTTT
    RDH12 Expression
    About this image


    RDH12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 5 entries
             Mature Rod Cells Outer Nuclear Layer
             Retina
             Photoreceptor-like cells
     
     NULL (Sensory Organs)    fully expand to see all 2 entries
             Photoreceptor-like cells
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
     
     Epithelial Cells
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Epidermis (Integumentary System)
    RDH12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RDH12 Protein Expression

    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:
     

     
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    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RDH12 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rdh121 , 5 retinol dehydrogenase 121, 5 83.23(n)1
    86.39(a)1
      12 (35.51 cM)5
    779741  NM_030017.31  NP_084293.11 
     792089145 
    chicken
    (Gallus gallus)
    Aves RDH121 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 67.95(n)
    68.91(a)
      423274  XM_421193.4  XP_421193.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    66(a)
    66(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    GL343272.1(1049956-1102885)
    GL343272.1(1032418-1064517)
    zebrafish
    (Danio rerio)
    Actinopterygii BI473635.12   -- 75.41(n)    BI473635.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG20656
    CG20706
    (see all 6)
    --
    52(a)
    51(a)
    (see all 6)
    many ↔ many
    many ↔ many
    (see all 6)
    2R(3551292-3552774)
    2R(3549487-3550764)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YOR246C)4
    ENV91
    Protein with similarity to oxidoreductases, found in more4
    ENV91
    42.96(n)1
    35.56(a)1
      15(796793-795801)4
    8544201, 4  NP_014889.31  NP_014889.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G234201 AT4G23420 45.1(n)
    38.24(a)
      828441  NM_001203882.1  NP_001190811.1 
    rice
    (Oryza sativa)
    Liliopsida Os09g05703001 Os09g0570300 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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RDH12 gene
    RDH132  ENSG000002584662  DHRS122  WWOX2  DHRSX2  DHRS132  RDH142  RDH112  
    7 SIMAP similar genes for RDH12 using alignment to 1 protein entry:     RDH12_HUMAN:
    RDH11    RDH13    RDH14    DHRS13    WWOX    DHRSX
    DHRS12

    Find genes that share paralogs with RDH12           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RDH12 (see all 764)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289403141,2,,4
    CLeber congenital amaurosis 13 (LCA13)4 pathogenic149177336(+) CAACAC/TGGGCA 2 T M mis1 ese30--------
    rs289403151,2,,4
    CLeber congenital amaurosis 13 (LCA13)4 pathogenic149177992(+) TGGACA/CTATCC 2 I L mis10--------
    rs289403131,2,,4
    CLeber congenital amaurosis 13 (LCA13)4 pathogenic149181995(+) CACCTA/GCGCAG 2 Y C mis10--------
    VAR_0208614
    Leber congenital amaurosis 13 (LCA13)4--see VAR_0208612 H D mis40--------
    VAR_0641694
    Retinitis pigmentosa 53 (RP53)4--see VAR_0641692 A V mis40--------
    VAR_0641664
    Retinitis pigmentosa 53 (RP53)4--see VAR_0641662 G R mis40--------
    VAR_0208594
    Leber congenital amaurosis 13 (LCA13)4--see VAR_0208592 I N mis40--------
    VAR_0208654
    Leber congenital amaurosis 13 (LCA13)4--see VAR_0208652 P A mis40--------
    VAR_0208634
    Leber congenital amaurosis 13 (LCA13)4--see VAR_0208632 S P mis40--------
    VAR_0208624
    Leber congenital amaurosis 13 (LCA13)4--see VAR_0208622 H N mis40--------

    HapMap Linkage Disequilibrium report for RDH12 (68168603 - 68201169 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RDH12:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661248CNV Deletion23128226
    nsv521832CNV Loss19592680
    nsv902068CNV Gain21882294

    Human Gene Mutation Database (HGMD): RDH12
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RDH12
    DNA2.0 Custom Variant and Variant Library Synthesis for RDH12

    (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.)
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    OMIM gene information: 608830   
    OMIM disorders: 612712  
    UniProtKB/Swiss-Prot: RDH12_HUMAN, Q96NR8
  • Leber congenital amaurosis 13 (LCA13) [MIM:612712]: A severe dystrophy of the retina, typically becoming
    evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish
    or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Retinitis pigmentosa 53 (RP53) [MIM:612712]: 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 4 diseases for RDH12:    
    About MalaCards
    rdh12-related leber congenital amaurosis    rdh12-related retinitis pigmentosa    leber congenital amaurosis    leber congenital amaurosis 17

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

    Find genes that share disorders with RDH12           About GenesLikeMe

    2 Novoseek inferred 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
    GeneReviews: RDH12
    Genetic Association Database (GAD): RDH12
    Human Genome Epidemiology (HuGE) Navigator: RDH12 (4 documents)

    Export disorders for RDH12 gene to outside databases

    (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)
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    PubMed articles for RDH12 gene, integrated from 10 sources (see all 51):
    (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. (Am. J. Hum. Genet. 2004)
    2. Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina. (PubMed id 12226107)1, 2, 3 Haeseleer F.... Palczewski K. (J. Biol. Chem. 2002)
    3. Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. (PubMed id 19753312)1, 4, 9 Sundaresan P....Stone E.M. (Mol. Vis. 2009)
    4. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    5. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. (PubMed id 20591486)1, 4 Clark G.R.... Simpson D.A. (Ophthalmology 2010)
    6. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (Chem. Biol. Interact. 2009)
    7. 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. (J. Steroid Biochem. Mol. Biol. 2007)
    8. 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. (Hum. Mol. Genet. 2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. 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. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RDH12 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=RDH12[genesymbol]

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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