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Aliases for RDH5 Gene

Aliases for RDH5 Gene

  • Retinol Dehydrogenase 5 2 3 4 5
  • Short Chain Dehydrogenase/Reductase Family 9C Member 5 3 4
  • Retinol Dehydrogenase 5 (11-Cis/9-Cis) 2 3
  • 9-Cis Retinol Dehydrogenase 3 4
  • 11-Cis RoDH 3 4
  • 11-Cis RDH 3 4
  • HSD17B9 3 4
  • SDR9C5 3 4
  • 9cRDH 3 4
  • RDH1 3 4
  • Short Chain Dehydrogenase/Reductase Family 9C, Member 5 2
  • Retinol Dehydrogenase 5 (11-Cis And 9-Cis) 3
  • 9-Cis-Retinol Specific Dehydrogenase 3
  • 11-Cis Retinol Dehydrogenase 4
  • Retinol Dehydrogenase 1 3
  • EC 1.1.1.105 56
  • EC 1.1.1.209 4
  • EC 1.1.1.315 4
  • EC 1.1.1.53 4
  • EC 1.1.1 56

External Ids for RDH5 Gene

Previous HGNC Symbols for RDH5 Gene

  • RDH1

Previous GeneCards Identifiers for RDH5 Gene

  • GC12P056038
  • GC12P056187
  • GC12P055830
  • GC12P054400
  • GC12P056115
  • GC12P053152
  • GC12P056121
  • GC12P056132

Summaries for RDH5 Gene

Entrez Gene Summary for RDH5 Gene

  • This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010]

GeneCards Summary for RDH5 Gene

RDH5 (Retinol Dehydrogenase 5) is a Protein Coding gene. Diseases associated with RDH5 include Fundus Albipunctatus and Night Blindness. Among its related pathways are Metabolism of fat-soluble vitamins and Drug metabolism - cytochrome P450. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and retinol dehydrogenase activity. An important paralog of this gene is RDH16.

UniProtKB/Swiss-Prot for RDH5 Gene

  • Catalyzes the oxidation of cis-isomers of retinol, including 11-cis-, 9-cis-, and 13-cis-retinol in an NAD-dependent manner (PubMed:11675386, PubMed:10588954, PubMed:9931293, PubMed:9115228). Has no activity towards all-trans retinal (By similarity). Plays a significant role in 11-cis retinol oxidation in the retinal pigment epithelium cells (RPE). Also recognizes steroids (androsterone, androstanediol) as its substrates (PubMed:9931293, PubMed:29541409).

Gene Wiki entry for RDH5 Gene

Additional gene information for RDH5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RDH5 Gene

Genomics for RDH5 Gene

GeneHancer (GH) Regulatory Elements for RDH5 Gene

Promoters and enhancers for RDH5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J055715 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 627.3 -1.8 -1845 7.4 CC2D1A SP1 ELF3 ZFX CTCF CBFA2T2 ZNF148 NKRF RERE GTF2F1 RDH5 ITGA7 BLOC1S1 PIR46127 PIR49113 BAZ2A TMEM198B DNAJC14 RN7SL809P PAN2
GH12J055815 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 22.9 +97.4 97369 3.9 ZFX CC2D1A SP1 ELF3 NKRF POLR2A MLLT1 GTF2F1 NFRKB FOS SARNP ORMDL2 BAZ2A ZC3H10 DNAJC14 RDH5 ENSG00000258317 CDK2 RN7SL809P STAT2
GH12J055925 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.7 +213.0 212971 16.2 HDGF SP1 ZFX ZNF652 CC2D1A ELF3 CTCF ZNF148 NKRF POLR2A PYM1 DGKA BAZ2A RN7SL809P TMEM198B DNAJC14 CDK2 RNU6-343P ZC3H10 MMP19
GH12J055726 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 6.2 +8.7 8732 5.4 HDGF CC2D1A ELF3 ZFX MNT CBFA2T2 ZNF148 NKRF ZNF121 GTF2F1 CD63 LOC105369779 ENSG00000258056 BAZ2A RN7SL809P STAT2 PAN2 CDK2 RPL41 TMEM198B
GH12J055826 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 5.4 +108.7 108664 5.9 HDGF MTA3 SP1 CC2D1A ELF3 MNT ZNF148 NKRF POLR2A MLLT1 DNAJC14 TMEM198B ENSG00000257390 GC12P055831 PIR58217 BAZ2A ZC3H10 ENSG00000258317 ENSG00000257740 RN7SL809P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RDH5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RDH5 gene promoter:
  • C/EBPbeta
  • CREB
  • deltaCREB
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5

Genomic Locations for RDH5 Gene

Genomic Locations for RDH5 Gene
chr12:55,720,367-55,724,742
(GRCh38/hg38)
Size:
4,376 bases
Orientation:
Plus strand
chr12:56,114,151-56,118,526
(GRCh37/hg19)
Size:
4,376 bases
Orientation:
Plus strand

Genomic View for RDH5 Gene

Genes around RDH5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RDH5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RDH5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RDH5 Gene

Proteins for RDH5 Gene

  • Protein details for RDH5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92781-RDH5_HUMAN
    Recommended name:
    Retinol dehydrogenase 5
    Protein Accession:
    Q92781
    Secondary Accessions:
    • O00179
    • Q8TAI2

    Protein attributes for RDH5 Gene

    Size:
    318 amino acids
    Molecular mass:
    34979 Da
    Quaternary structure:
    • Homodimer.

neXtProt entry for RDH5 Gene

Selected DME Specific Peptides for RDH5 Gene

Q92781:
  • GLVNNAG
  • EAFSDSLRR
  • TGCDSGFG

Post-translational modifications for RDH5 Gene

  • Glycosylation at posLast=160160
  • Modification sites at PhosphoSitePlus

Other Protein References for RDH5 Gene

Domains & Families for RDH5 Gene

Gene Families for RDH5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for RDH5 Gene

Suggested Antigen Peptide Sequences for RDH5 Gene

GenScript: Design optimal peptide antigens:
  • 11-cis retinol dehydrogenase (RDH1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92781

UniProtKB/Swiss-Prot:

RDH5_HUMAN :
  • The last 8 amino acids of the C-terminal tail are important for a proper localization as well as for the in vivo enzymatic activity.
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Domain:
  • The last 8 amino acids of the C-terminal tail are important for a proper localization as well as for the in vivo enzymatic activity.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with RDH5: view

Function for RDH5 Gene

Molecular function for RDH5 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the oxidation of cis-isomers of retinol, including 11-cis-, 9-cis-, and 13-cis-retinol in an NAD-dependent manner (PubMed:11675386, PubMed:10588954, PubMed:9931293, PubMed:9115228). Has no activity towards all-trans retinal (By similarity). Plays a significant role in 11-cis retinol oxidation in the retinal pigment epithelium cells (RPE). Also recognizes steroids (androsterone, androstanediol) as its substrates (PubMed:9931293, PubMed:29541409).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=11-cis-retinol + NAD(+) = 11-cis-retinal + H(+) + NADH; Xref=Rhea:RHEA:42060, ChEBI:CHEBI:15378, ChEBI:CHEBI:16066, ChEBI:CHEBI:16302, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.315; Evidence={ECO:0000269 PubMed:10588954, ECO:0000269 PubMed:11675386, ECO:0000269 PubMed:9931293};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=9-cis-retinol + NAD(+) = 9-cis-retinal + H(+) + NADH; Xref=Rhea:RHEA:42052, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:78272, ChEBI:CHEBI:78273; Evidence={ECO:0000269 PubMed:9115228, ECO:0000269 PubMed:9931293};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=13-cis-retinol + NAD(+) = 13-cis-retinal + H(+) + NADH; Xref=Rhea:RHEA:42056, ChEBI:CHEBI:15378, ChEBI:CHEBI:45479, ChEBI:CHEBI:45487, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3alpha-hydroxy-5alpha-androstan-17-one + NAD(+) = 5alpha-androstan-3,17-dione + H(+) + NADH; Xref=Rhea:RHEA:20381, ChEBI:CHEBI:15378, ChEBI:CHEBI:15994, ChEBI:CHEBI:16032, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.209; Evidence={ECO:0000269 PubMed:29541409, ECO:0000269 PubMed:9931293};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5alpha-androstane-3alpha,17beta-diol + NAD(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADH; Xref=Rhea:RHEA:42004, ChEBI:CHEBI:15378, ChEBI:CHEBI:16330, ChEBI:CHEBI:36713, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.53; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by 9-cis-, 13-cis- and all-trans-retinoic acids, with the most potent inhibitor being 13-cis-retinoic acid. Weakly inhibited by oleic acid.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 7.5-8.0 for 9-cis retinol dehydrogenase activity. {ECO:0000269 PubMed:9115228};
GENATLAS Biochemistry:
retinol dehydrogenase 5,11-cis,expressed in retinal pigment epithelium,formerly RDH1

Enzyme Numbers (IUBMB) for RDH5 Gene

Phenotypes From GWAS Catalog for RDH5 Gene

Gene Ontology (GO) - Molecular Function for RDH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004745 retinol dehydrogenase activity IDA,TAS 11675386
GO:0016491 oxidoreductase activity IEA --
GO:0042803 protein homodimerization activity IDA 11675386
GO:0047023 androsterone dehydrogenase activity IEA,IDA 9931293
GO:0047044 androstan-3-alpha,17-beta-diol dehydrogenase activity IDA,IEA 9931293
genes like me logo Genes that share ontologies with RDH5: view
genes like me logo Genes that share phenotypes with RDH5: view

Human Phenotype Ontology for RDH5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RDH5 Gene

MGI Knock Outs for RDH5:

Animal Model Products

CRISPR Products

miRNA for RDH5 Gene

miRTarBase miRNAs that target RDH5

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RDH5

Clone Products

  • Applied Biological Materials (abm): Clones for RDH5 - Now 50% OFF >
  • * RDH5 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * RDH5 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Transcription Factor Targets and HOMER Transcription for RDH5 Gene

Localization for RDH5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RDH5 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein; Lumenal side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RDH5 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
lysosome 1
mitochondrion 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RDH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen IEA,IDA 11675386
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RDH5: view

Pathways & Interactions for RDH5 Gene

genes like me logo Genes that share pathways with RDH5: view

UniProtKB/Swiss-Prot Q92781-RDH5_HUMAN

  • Pathway: Cofactor metabolism; retinol metabolism.

Gene Ontology (GO) - Biological Process for RDH5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0007601 visual perception IEA,TAS --
GO:0008202 steroid metabolic process IDA 9931293
GO:0042572 retinol metabolic process IEA --
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with RDH5: view

No data available for SIGNOR curated interactions for RDH5 Gene

Drugs & Compounds for RDH5 Gene

(3) Drugs for RDH5 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin A Approved, Vet_approved Nutra Target 619
NADH Approved Nutra Target 0
NAD Experimental Pharma Full agonist, Agonist, Activator 0

(3) Additional Compounds for RDH5 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
NADP
  • beta-Nicotinamide adenine dinucleotide phosphate
  • NADP+
  • Nicotinamide adenine dinucleotide phosphate
  • Oxidized nicotinamide-adenine dinucleotide phosphate
  • TPN
53-59-8
Retinal
  • (13cis)-Retinal
  • (2Z,4E,6E,8E)-3,7-Dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenal
  • 13-cis-Retinaldehyde
  • RETINAL
  • 13Z-Retinal
116-31-4, 564-87-4
genes like me logo Genes that share compounds with RDH5: view

Transcripts for RDH5 Gene

mRNA/cDNA for RDH5 Gene

Unigene Clusters for RDH5 Gene

Retinol dehydrogenase 5 (11-cis/9-cis):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RDH5

Clone Products

  • Applied Biological Materials (abm): Clones for RDH5 - Now 50% OFF >
  • * RDH5 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * RDH5 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for RDH5 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5
SP1: - -
SP2: - -
SP3: - -
SP4: - - - -

Relevant External Links for RDH5 Gene

GeneLoc Exon Structure for
RDH5
ECgene alternative splicing isoforms for
RDH5

Expression for RDH5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RDH5 Gene

mRNA differential expression in normal tissues according to GTEx for RDH5 Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x5.0) and Adipose - Subcutaneous (x4.5).

Protein differential expression in normal tissues from HIPED for RDH5 Gene

This gene is overexpressed in Adipocyte (53.8) and Serum (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RDH5 Gene



Protein tissue co-expression partners for RDH5 Gene

NURSA nuclear receptor signaling pathways regulating expression of RDH5 Gene:

RDH5

SOURCE GeneReport for Unigene cluster for RDH5 Gene:

Hs.600940

mRNA Expression by UniProt/SwissProt for RDH5 Gene:

Q92781-RDH5_HUMAN
Tissue specificity: Widely expressed. In the eye, abundant in the retinal pigment epithelium.

Evidence on tissue expression from TISSUES for RDH5 Gene

  • Nervous system(4.4)
  • Blood(4)
  • Eye(2.9)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RDH5 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with RDH5: view

Orthologs for RDH5 Gene

This gene was present in the common ancestor of animals.

Orthologs for RDH5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RDH5 34
  • 99.69 (n)
cow
(Bos Taurus)
Mammalia RDH5 35 34
  • 89.89 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RDH5 35 34
  • 89.41 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rdh5 17 35 34
  • 86.06 (n)
rat
(Rattus norvegicus)
Mammalia Rdh5 34
  • 85.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RDH5 35
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves RDH5 35 34
  • 69.34 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RDH5 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rdh5 34
  • 62.78 (n)
Str.15773 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.26338 34
zebrafish
(Danio rerio)
Actinopterygii rdh5 35 34
  • 57.62 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F55E10.6 36
  • 35 (a)
Species where no ortholog for RDH5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RDH5 Gene

ENSEMBL:
Gene Tree for RDH5 (if available)
TreeFam:
Gene Tree for RDH5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RDH5: view image

Paralogs for RDH5 Gene

(8) SIMAP similar genes for RDH5 Gene using alignment to 4 proteins:

  • RDH1_HUMAN
  • F8VUB9_HUMAN
  • F8VVC7_HUMAN
  • H0YHP7_HUMAN
genes like me logo Genes that share paralogs with RDH5: view

Variants for RDH5 Gene

Sequence variations from dbSNP and Humsavar for RDH5 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs104894373 pathogenic, Fundus albipunctatus, autosomal recessive, Fundus albipunctatus (FALBI) [MIM:136880] 55,721,908(+) T/G coding_sequence_variant, missense_variant
rs104894374 pathogenic, Fundus albipunctatus, autosomal recessive, Fundus albipunctatus (FALBI) [MIM:136880] 55,721,847(+) C/A/T coding_sequence_variant, missense_variant, synonymous_variant
rs111033593 pathogenic, Fundus albipunctatus, autosomal recessive, Fundus albipunctatus (FALBI) [MIM:136880] 55,724,468(+) G/C coding_sequence_variant, missense_variant
rs1136125 likely-benign, Pigmentary retinal dystrophy 55,721,449(+) G/A/T coding_sequence_variant, missense_variant
rs114663094 likely-benign, Pigmentary retinal dystrophy 55,720,397(+) C/T 5_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for RDH5 Gene

Variant ID Type Subtype PubMed ID
nsv469410 CNV loss 19166990
nsv525231 CNV loss 19592680
nsv559004 CNV loss 21841781
nsv559005 CNV loss 21841781
nsv832423 CNV gain 17160897

Variation tolerance for RDH5 Gene

Residual Variation Intolerance Score: 59.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.70; 46.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RDH5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RDH5
Human Gene Mutation Database (HGMD)
RDH5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RDH5 Gene

Disorders for RDH5 Gene

MalaCards: The human disease database

(12) MalaCards diseases for RDH5 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fundus albipunctatus
  • fa
night blindness
oguchi disease
  • stationary night blindness, oguchi type
cone-rod dystrophy 8
  • cord8
cone-rod dystrophy 9
  • retinitis pigmentosa 9
- elite association - COSMIC cancer census association via MalaCards
Search RDH5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RDH5_HUMAN
  • Fundus albipunctatus (FALBI) [MIM:136880]: A form of fleck retina disease characterized by discrete uniform white dots over the entire fundus with greatest density in the mid-periphery and no macular involvement. Night blindness occurs. Inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269 PubMed:10369264, ECO:0000269 PubMed:10617778, ECO:0000269 PubMed:11053295, ECO:0000269 PubMed:11053296, ECO:0000269 PubMed:11078852, ECO:0000269 PubMed:11470705, ECO:0000269 PubMed:11675386, ECO:0000269 PubMed:12788147, ECO:0000269 PubMed:12967826, ECO:0000269 PubMed:22736946, ECO:0000269 PubMed:24603341, ECO:0000269 PubMed:25820994, ECO:0000269 PubMed:28418496}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for RDH5 Gene

fundus albipunctatus,both autosomal recessive and autosomal dominant,characterized by numerous small subretinal white spots,normal retinal vessels but delayed dark adaptation

Additional Disease Information for RDH5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RDH5: view

Publications for RDH5 Gene

  1. Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus. (PMID: 11675386) Lidén M … Eriksson U (The Journal of biological chemistry 2001) 3 4 23 45 58
  2. A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. (PMID: 11053295) Nakamura M … Miyake Y (Investigative ophthalmology & visual science 2000) 3 4 23 45 58
  3. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3 4 58
  4. Macular dystrophy in a Japanese family with fundus albipunctatus. (PMID: 12788147) Hotta K … Hida T (American journal of ophthalmology 2003) 3 4 23 58
  5. Long-term fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene. (PMID: 12860821) Sekiya K … Abe H (Archives of ophthalmology (Chicago, Ill. : 1960) 2003) 3 23 45 58

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