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Aliases for RDH8 Gene

Aliases for RDH8 Gene

  • Retinol Dehydrogenase 8 (All-Trans) 2 3 5
  • Photoreceptor Outer Segment All-Trans Retinol Dehydrogenase 3 4
  • Short Chain Dehydrogenase/Reductase Family 28C Member 2 3 4
  • SDR28C2 3 4
  • PRRDH 3 4
  • Short Chain Dehydrogenase/Reductase Family 28C, Member 2 2
  • Retinol Dehydrogenase 8 3
  • EC 1.1.1.300 4

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 Myopia and Stargardt Disease. Among its related pathways are the visual cycle I (vertebrates) and Metabolism of fat-soluble vitamins. GO annotations related to this gene include oxidoreductase activity and estradiol 17-beta-dehydrogenase activity. An important paralog of this gene is HSD17B1.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RDH8 Gene

Genomics for RDH8 Gene

Regulatory Elements for RDH8 Gene

Enhancers for RDH8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G010235 2 FANTOM5 Ensembl ENCODE dbSUPER 9.7 +224.1 224100 4.4 HDGF FOXA2 PKNOX1 MLX WRNIP1 SIN3A ARID4B FEZF1 YBX1 YY1 S1PR5 RDH8 COL5A3 MRPL4 S1PR2 ATG4D C19orf66 TYK2 DNM2 FBXL12
GH19G009917 1.3 Ensembl ENCODE 11.9 -95.8 -95766 0.2 PKNOX1 CREB3L1 MLX ARNT ZFP64 DMAP1 YY1 SLC30A9 ZNF143 FOS COL5A3 RDH8 C19orf66 GC19P009927 PIR54152
GH19G009914 1 ENCODE 11.2 -98.5 -98456 0.9 HDGF ATF1 ARNT AGO1 SIN3A ZNF48 GLIS2 ZNF143 FOS DEK OLFM2 COL5A3 RDH8 ENSG00000267273 ZNF266 GC19P009927 PIR54152
GH19G010197 1 Ensembl ENCODE 10.4 +186.5 186459 4.2 HDGF KLF1 ZMYM3 CEBPG ZNF384 ZBTB40 ZNF316 EGR1 POLR2A NFE2 C19orf66 ANGPTL6 S1PR2 MRPL4 ICAM1 EIF3G P2RY11 SNORD105B SNORD105 PPAN-P2RY11
GH19G010141 0.9 ENCODE 10.9 +129.9 129859 2.2 CREB3L1 NFRKB AGO1 ZNF48 ZNF335 ZNF121 ZNF766 PRPF4 SMARCA5 PAF1 EIF3G C19orf66 ANGPTL6 TIMM29 FBXL12 ZNF561 P2RY11 SNORD105B SNORD105 PPAN-P2RY11
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RDH8 on UCSC Golden Path with GeneCards custom track

Genomic Location for RDH8 Gene

Chromosome:
19
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

Genes around RDH8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RDH8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for RDH8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RDH8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RDH8 Gene

Domains & Families for RDH8 Gene

Gene Families for RDH8 Gene

Suggested Antigen Peptide Sequences for RDH8 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NYR8

UniProtKB/Swiss-Prot:

RDH8_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
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 IEA,TAS 10753906
GO:0016491 oxidoreductase activity IEA --
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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RDH8

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets 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
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 RDH8 gene
Compartment Confidence
plasma membrane 4
extracellular 2
cytosol 2
mitochondrion 1
peroxisome 1
nucleus 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 & Interactions for RDH8 Gene

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

Pathways by source for RDH8 Gene

Interacting Proteins for RDH8 Gene

Gene Ontology (GO) - Biological Process for RDH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006694 steroid biosynthetic process TAS 10753906
GO:0006703 estrogen biosynthetic process IEA --
GO:0007601 visual perception IEA --
GO:0042572 retinol metabolic process IEA --
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with RDH8: view

No data available for SIGNOR curated interactions for RDH8 Gene

Drugs & Compounds for RDH8 Gene

(1) Drugs for RDH8 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin A Approved, Vet_approved Nutra Target 492

(3) Additional Compounds for RDH8 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
Retinal
  • 3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-Nonatetraenal
  • All-E-Retinal
  • All-epsilon-Retinal
  • All-trans-Retinal
  • All-trans-Retinaldehyde
116-31-4
genes like me logo Genes that share compounds with RDH8: view

Transcripts for RDH8 Gene

mRNA/cDNA for RDH8 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RDH8

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for RDH8 Gene

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

This gene is overexpressed in Testis (x31.5) and Kidney - Cortex (x11.4).

Protein differential expression in normal tissues from HIPED for RDH8 Gene

This gene is overexpressed in Adipocyte (35.2) and Retina (33.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RDH8 Gene



Protein tissue co-expression partners for RDH8 Gene

NURSA nuclear receptor signaling pathways regulating expression of RDH8 Gene:

RDH8

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).

Evidence on tissue expression from TISSUES for RDH8 Gene

  • Eye(4.5)
genes like me logo Genes that share expression patterns with RDH8: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 97.98 (n)
cow
(Bos Taurus)
Mammalia RDH8 34 35
  • 86.07 (n)
dog
(Canis familiaris)
Mammalia RDH8 34 35
  • 85.74 (n)
rat
(Rattus norvegicus)
Mammalia Rdh8 34
  • 82.15 (n)
mouse
(Mus musculus)
Mammalia Rdh8 34 16 35
  • 82.1 (n)
oppossum
(Monodelphis domestica)
Mammalia RDH8 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 56 (a)
OneToMany
chicken
(Gallus gallus)
Aves LOC100858293 34
  • 61.94 (n)
RDH8 35
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RDH8 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491569 34
  • 59.46 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC556557 34
  • 57.71 (n)
rdh8b 35
  • 55 (a)
OneToMany
rdh8a 35
  • 53 (a)
OneToMany
zgc73081 34
fruit fly
(Drosophila melanogaster)
Insecta sro 35
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6045 35
  • 6 (a)
OneToMany
Species where no ortholog for RDH8 was found in the sources mined by GeneCards:
  • 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

(4) 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
rs1000453173 -- 10,013,245(+) AACCA(A/G)TGATG upstream-variant-2KB
rs1001033567 -- 10,012,185(+) GCTTC(C/T)CCCAC upstream-variant-2KB
rs1001091759 -- 10,016,808(+) ACCTA(A/G)AATAG intron-variant
rs1001867320 -- 10,012,131(+) GGAGG(A/G)GAGGA upstream-variant-2KB
rs1002092963 -- 10,018,409(+) TGATA(C/T)AGAAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv833742 CNV loss 17160897

Variation tolerance for RDH8 Gene

Residual Variation Intolerance Score: 57.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.49; 85.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RDH8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RDH8

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

Disorders for RDH8 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RDH8 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myopia
  • near vision
stargardt disease
  • stargardt disease-1
macular degeneration, age-related, 1
  • macular degeneration, age-related, reduced risk of
leber congenital amaurosis
  • lca
- elite association - COSMIC cancer census association via MalaCards
Search RDH8 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RDH8

Genetic Association Database (GAD)
RDH8
Human Genome Epidemiology (HuGE) Navigator
RDH8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RDH8
genes like me logo Genes that share disorders with RDH8: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 22 64
  2. 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 46 64
  3. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3 64
  4. Role of photoreceptor-specific retinol dehydrogenase in the retinoid cycle in vivo. (PMID: 15755727) Maeda A. … Palczewski K. (J. Biol. Chem. 2005) 3 22 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for RDH8 Gene

Sources for RDH8 Gene

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