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Aliases for RDH8 Gene

Aliases for RDH8 Gene

  • Retinol Dehydrogenase 8 (All-Trans) 2 3
  • PRRDH 3 4 6
  • Photoreceptor Outer Segment All-Trans Retinol Dehydrogenase 3 4
  • Short Chain Dehydrogenase/Reductase Family 28C Member 2 3 4
  • SDR28C2 3 4
  • Short Chain Dehydrogenase/Reductase Family 28C, Member 2 3
  • Short Chain Dehydrogenase/Reductase Family 28C 2
  • Retinol Dehydrogenase 8 3
  • EC 1.1.1.300 4
  • Member 2 2

External Ids for RDH8 Gene

Previous GeneCards Identifiers for RDH8 Gene

  • GC19P010245
  • GC19P010346
  • GC19P009969
  • GC19P009984
  • GC19P010123
  • GC19P009704

Summaries for RDH8 Gene

Entrez Gene Summary for RDH8 Gene

  • This gene encodes a member of the short-chain dehydrogenase/reductase family. The encoded protein catalyzes the reduction of all-trans-retinal to all-trans-retinol, the first reaction step of the rhodopsin regeneration pathway. This enzymatic reaction is the rate-limiting step in the visual cycle. [provided by RefSeq, Feb 2014]

GeneCards Summary for RDH8 Gene

RDH8 (Retinol Dehydrogenase 8 (All-Trans)) is a Protein Coding gene. Diseases associated with RDH8 include leber congenital amaurosis. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include retinol dehydrogenase activity and NADP-retinol dehydrogenase activity. An important paralog of this gene is HSD11B2.

UniProtKB/Swiss-Prot for RDH8 Gene

  • Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinal to all-trans-retinol. May play a role in the regeneration of visual pigment at high light intensity (By similarity).

Gene Wiki entry for RDH8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RDH8 Gene

Genomics for RDH8 Gene

Regulatory Elements for RDH8 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RDH8 Gene

Start:
10,013,249 bp from pter
End:
10,022,279 bp from pter
Size:
9,031 bases
Orientation:
Plus strand

Genomic View for RDH8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RDH8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RDH8 Gene

Proteins for RDH8 Gene

  • Protein details for RDH8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYR8-RDH8_HUMAN
    Recommended name:
    Retinol dehydrogenase 8
    Protein Accession:
    Q9NYR8
    Secondary Accessions:
    • Q9H838

    Protein attributes for RDH8 Gene

    Size:
    311 amino acids
    Molecular mass:
    33755 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB14782.1; Type=Frameshift; Positions=26; Evidence={ECO:0000305};

neXtProt entry for RDH8 Gene

Proteomics data for RDH8 Gene at MOPED

Post-translational modifications for RDH8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RDH8 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for RDH8 Gene

Domains for RDH8 Gene

Gene Families for RDH8 Gene

HGNC:
  • SDRC2 :Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2

Suggested Antigen Peptide Sequences for RDH8 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NYR8

UniProtKB/Swiss-Prot:

RDH8_HUMAN :
  • Q9NYR8
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with RDH8: view

Function for RDH8 Gene

Molecular function for RDH8 Gene

UniProtKB/Swiss-Prot CatalyticActivity: All-trans-retinol + NADP(+) = all-trans-retinal + NADPH
UniProtKB/Swiss-Prot Function: Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinal to all-trans-retinol. May play a role in the regeneration of visual pigment at high light intensity (By similarity).

Enzyme Numbers (IUBMB) for RDH8 Gene

Gene Ontology (GO) - Molecular Function for RDH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004303 estradiol 17-beta-dehydrogenase activity IEA --
GO:0004745 retinol dehydrogenase activity TAS 10753906
GO:0016491 oxidoreductase activity --
GO:0052650 NADP-retinol dehydrogenase activity IEA --
genes like me logo Genes that share ontologies with RDH8: view
genes like me logo Genes that share phenotypes with RDH8: view

Animal Models for RDH8 Gene

MGI Knock Outs for RDH8:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RDH8

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for RDH8 Gene

Localization for RDH8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RDH8 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RDH8 Gene COMPARTMENTS Subcellular localization image for RDH8 gene
Compartment Confidence
plasma membrane 4
cytosol 2
extracellular 2
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for RDH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005887 integral component of plasma membrane TAS 10753906
genes like me logo Genes that share ontologies with RDH8: view

Pathways for RDH8 Gene

genes like me logo Genes that share pathways with RDH8: view

Interacting Proteins for RDH8 Gene

Gene Ontology (GO) - Biological Process for RDH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0006694 steroid biosynthetic process TAS 10753906
GO:0006703 estrogen biosynthetic process IEA --
GO:0007601 visual perception IEA --
GO:0007603 phototransduction, visible light TAS --
genes like me logo Genes that share ontologies with RDH8: view

Compounds for RDH8 Gene

(2) HMDB Compounds for RDH8 Gene

Compound Synonyms Cas Number PubMed IDs
NADP
  • Adenine-nicotinamide dinucleotide phosphate
53-59-8
NADPH
  • 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
53-57-6

(1) Drugbank Compounds for RDH8 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Vitamin A
  • [11,12-3H]-Retinol
68-26-8 target

(1) Novoseek inferred chemical compound relationships for RDH8 Gene

Compound -log(P) Hits PubMed IDs
vitamin a 72.9 9
genes like me logo Genes that share compounds with RDH8: view

Transcripts for RDH8 Gene

mRNA/cDNA for RDH8 Gene

(14) Selected AceView cDNA sequences:
(3) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RDH8 Gene

Retinol dehydrogenase 8 (all-trans):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RDH8

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for RDH8

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RDH8 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b
SP1: -
SP2: - -
SP3: -

Relevant External Links for RDH8 Gene

GeneLoc Exon Structure for
RDH8
ECgene alternative splicing isoforms for
RDH8

Expression for RDH8 Gene

mRNA expression in normal human tissues for RDH8 Gene

mRNA differential expression in normal tissues according to GTEx for RDH8 Gene

This gene is overexpressed in Testis (31.5) and Kidney - Cortex (11.4).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for RDH8 Gene

SOURCE GeneReport for Unigene cluster for RDH8 Gene Hs.675522

mRNA Expression by UniProt/SwissProt for RDH8 Gene

Q9NYR8-RDH8_HUMAN
Tissue specificity: Detected in photoreceptor outer segments in the retina (at protein level).
genes like me logo Genes that share expressions with RDH8: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for RDH8 Gene

Orthologs for RDH8 Gene

This gene was present in the common ancestor of animals.

Orthologs for RDH8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RDH8 35
  • 97.98 (n)
  • 96.97 (a)
RDH8 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RDH8 35
  • 86.07 (n)
  • 85.53 (a)
RDH8 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RDH8 35
  • 85.74 (n)
  • 84.57 (a)
RDH8 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rdh8 35
  • 82.1 (n)
  • 82.96 (a)
Rdh8 16
Rdh8 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RDH8 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 56 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Rdh8 35
  • 82.15 (n)
  • 83.87 (a)
chicken
(Gallus gallus)
Aves LOC100858293 35
  • 61.94 (n)
  • 58.45 (a)
RDH8 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RDH8 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491569 35
  • 59.46 (n)
  • 55.74 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC556557 35
  • 57.71 (n)
  • 51.36 (a)
rdh8a 36
  • 53 (a)
OneToMany
rdh8b 36
  • 55 (a)
OneToMany
zgc73081 35
fruit fly
(Drosophila melanogaster)
Insecta sro 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6045 36
  • 6 (a)
OneToMany
Species with no ortholog for RDH8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for RDH8 Gene

ENSEMBL:
Gene Tree for RDH8 (if available)
TreeFam:
Gene Tree for RDH8 (if available)

Paralogs for RDH8 Gene

Selected SIMAP similar genes for RDH8 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with RDH8: view

Variants for RDH8 Gene

Sequence variations from dbSNP and Humsavar for RDH8 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs747574 -- 10,021,614(-) GTTTT(A/G)AGCGT reference, synonymous-codon
rs889121 -- 10,014,445(-) GCAGC(C/T)TGGTG intron-variant
rs889128 -- 10,021,017(-) TTTTA(A/C)ATTTT intron-variant
rs1122206 - 10,018,876(+) GGCCA(C/G)ATCGT reference, missense
rs1466305 -- 10,020,366(+) ggagg(A/G)aggga intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RDH8 Gene

Variant ID Type Subtype PubMed ID
nsv833742 CNV Loss 17160897
dgv3724n71 CNV Gain 21882294
nsv911027 CNV Loss 21882294

Relevant External Links for RDH8 Gene

HapMap Linkage Disequilibrium report
RDH8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RDH8 Gene

Disorders for RDH8 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for RDH8 Gene including...

Search for RDH8 Gene in MalaCards »

(2) University of Copenhagen DISEASES for RDH8 Gene

(2) Novoseek inferred disease relationships for RDH8 Gene

Disease -log(P) Hits PubMed IDs
eye diseases 58.4 2
myopia 50.8 2

Relevant External Links for RDH8

Genetic Association Database (GAD)
RDH8
Human Genome Epidemiology (HuGE) Navigator
RDH8
genes like me logo Genes that share disorders with RDH8: view

No data available for UniProtKB/Swiss-Prot for RDH8 Gene

Publications for RDH8 Gene

  1. Identification and characterization of all-trans-retinol dehydrogenase from photoreceptor outer segments, the visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol. (PMID: 10753906) Rattner A. … Nathans J. (J. Biol. Chem. 2000) 2 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3
  4. Investigation of the association between all-trans-retinol dehydrogenase (RDH8) polymorphisms and high myopia in Chinese. (PMID: 21043051) Yu Y.S. … Han W. (J Zhejiang Univ Sci B 2010) 3 48
  5. Role of photoreceptor-specific retinol dehydrogenase in the retinoid cycle in vivo. (PMID: 15755727) Maeda A. … Palczewski K. (J. Biol. Chem. 2005) 3 23

Products for RDH8 Gene

Sources for RDH8 Gene

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