Details for: RDH8

Gene ID: 50700

Symbol: RDH8

Ensembl ID: ENSG00000080511

Description: retinol dehydrogenase 8

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 8.0623
    Cell Significance Index: 508.1400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 5.8885
    Cell Significance Index: 70.2000
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.8138
    Cell Significance Index: 9.8700
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.7119
    Cell Significance Index: 17.2500
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.6573
    Cell Significance Index: 5.7900
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.2686
    Cell Significance Index: 2.0700
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.1865
    Cell Significance Index: 2.3600
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.1258
    Cell Significance Index: 1.5800
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.1187
    Cell Significance Index: 0.9800
  • Cell Name: epithelial cell of lacrimal sac (CL1000436)
    Fold Change: 0.0709
    Cell Significance Index: 0.5100
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.0609
    Cell Significance Index: 0.7600
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.0465
    Cell Significance Index: 0.5400
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.0452
    Cell Significance Index: 1.1300
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.0305
    Cell Significance Index: 0.2400
  • Cell Name: bipolar neuron (CL0000103)
    Fold Change: 0.0303
    Cell Significance Index: 0.1700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0292
    Cell Significance Index: 0.6400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0239
    Cell Significance Index: 0.6400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0191
    Cell Significance Index: 1.0100
  • Cell Name: diffuse bipolar 4 cell (CL4033031)
    Fold Change: 0.0181
    Cell Significance Index: 0.2200
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.0134
    Cell Significance Index: 0.1300
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 0.0106
    Cell Significance Index: 0.1200
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.0044
    Cell Significance Index: 0.0500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0041
    Cell Significance Index: 0.0700
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.0035
    Cell Significance Index: 0.0500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0021
    Cell Significance Index: 3.8900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0002
    Cell Significance Index: 0.0500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0003
    Cell Significance Index: -0.4300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0003
    Cell Significance Index: -0.4300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0006
    Cell Significance Index: -0.4100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0010
    Cell Significance Index: -0.7100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0012
    Cell Significance Index: -0.2400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0014
    Cell Significance Index: -0.4900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0016
    Cell Significance Index: -1.0200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0016
    Cell Significance Index: -0.7100
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.0018
    Cell Significance Index: -0.0200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0019
    Cell Significance Index: -1.0900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0021
    Cell Significance Index: -0.6000
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.0024
    Cell Significance Index: -0.0300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0028
    Cell Significance Index: -0.4700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0031
    Cell Significance Index: -0.4300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0032
    Cell Significance Index: -0.0800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0034
    Cell Significance Index: -0.5000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0050
    Cell Significance Index: -0.9100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0056
    Cell Significance Index: -0.0800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0075
    Cell Significance Index: -0.8600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0077
    Cell Significance Index: -0.3600
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0085
    Cell Significance Index: -0.1400
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: -0.0087
    Cell Significance Index: -0.1100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0089
    Cell Significance Index: -1.1000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0102
    Cell Significance Index: -1.0600
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.0111
    Cell Significance Index: -0.1400
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0115
    Cell Significance Index: -0.5000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0121
    Cell Significance Index: -0.3300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0135
    Cell Significance Index: -1.3800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0138
    Cell Significance Index: -0.9300
  • Cell Name: invaginating midget bipolar cell (CL4033034)
    Fold Change: -0.0138
    Cell Significance Index: -0.1700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0142
    Cell Significance Index: -0.7200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0153
    Cell Significance Index: -0.9400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0153
    Cell Significance Index: -0.4400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0159
    Cell Significance Index: -0.4500
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: -0.0171
    Cell Significance Index: -0.2400
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.0179
    Cell Significance Index: -0.1700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0182
    Cell Significance Index: -1.0200
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0183
    Cell Significance Index: -0.5800
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.0185
    Cell Significance Index: -0.2700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0188
    Cell Significance Index: -0.6900
  • Cell Name: diffuse bipolar 2 cell (CL4033028)
    Fold Change: -0.0191
    Cell Significance Index: -0.2400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0207
    Cell Significance Index: -0.6000
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0211
    Cell Significance Index: -0.3200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0213
    Cell Significance Index: -0.9400
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0216
    Cell Significance Index: -0.8900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0218
    Cell Significance Index: -0.7700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0232
    Cell Significance Index: -1.2100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0232
    Cell Significance Index: -0.8800
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: -0.0244
    Cell Significance Index: -0.3200
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0244
    Cell Significance Index: -0.3600
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0245
    Cell Significance Index: -0.4200
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.0248
    Cell Significance Index: -0.2400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0248
    Cell Significance Index: -0.6200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0250
    Cell Significance Index: -0.8200
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0250
    Cell Significance Index: -0.6100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0251
    Cell Significance Index: -1.1800
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.0254
    Cell Significance Index: -0.3200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0256
    Cell Significance Index: -0.5000
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0261
    Cell Significance Index: -0.2700
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.0266
    Cell Significance Index: -0.2600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0267
    Cell Significance Index: -0.8500
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: -0.0267
    Cell Significance Index: -0.3400
  • Cell Name: flat midget bipolar cell (CL4033033)
    Fold Change: -0.0274
    Cell Significance Index: -0.3400
  • Cell Name: S cone cell (CL0003050)
    Fold Change: -0.0275
    Cell Significance Index: -0.3200
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.0293
    Cell Significance Index: -0.3900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0295
    Cell Significance Index: -0.8700
  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: -0.0317
    Cell Significance Index: -0.5100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0329
    Cell Significance Index: -0.5500
  • Cell Name: diffuse bipolar 3b cell (CL4033030)
    Fold Change: -0.0332
    Cell Significance Index: -0.4000
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.0342
    Cell Significance Index: -0.4800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0343
    Cell Significance Index: -0.9800
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0345
    Cell Significance Index: -0.4900
  • Cell Name: giant bipolar cell (CL4033035)
    Fold Change: -0.0350
    Cell Significance Index: -0.4100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** RDH8 is a member of the retinol dehydrogenase family, which consists of enzymes that convert retinol to retinaldehyde, a key intermediate in the visual cycle. RDH8 is specifically involved in the reduction of retinaldehyde to retinol, which is then converted to retinoic acid, a powerful transcription factor that regulates gene expression. RDH8 is a cytosolic enzyme, with a plasma membrane localization in retinal rod cells, where it plays a critical role in the visual cycle. **Pathways and Functions:** RDH8 is involved in several key pathways, including: 1. **Retinol Metabolic Process:** RDH8 is a crucial enzyme in the retinol metabolic pathway, converting retinol to retinaldehyde and then to retinoic acid. 2. **Visual Perception:** RDH8 is essential for the canonical retinoid cycle in rods, which is responsible for twilight vision. This cycle involves the conversion of retinol to retinaldehyde, which is then converted to rhodopsin, a light-sensitive pigment that initiates visual transduction. 3. **Estrogen Biosynthesis:** RDH8 is also involved in the biosynthesis of estrogens, particularly estradiol, which is a key female sex hormone. 4. **Sensory Perception:** RDH8 is expressed in sensory neurons, including those involved in visual, olfactory, and gustatory perception. **Clinical Significance:** RDH8 dysfunction has been implicated in several diseases, including: 1. **Retinitis Pigmentosa:** A group of inherited disorders characterized by progressive vision loss due to photoreceptor degeneration. RDH8 mutations have been identified in some cases of retinitis pigmentosa. 2. **Visual Impairment:** RDH8 deficiency has been linked to visual impairment and blindness, particularly in individuals with retinal degeneration. 3. **Neurodegenerative Diseases:** RDH8 has been implicated in neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease, where it may play a role in the regulation of retinoic acid levels. In conclusion, RDH8 is a critical enzyme involved in the metabolism of retinol and the visual cycle. Its dysfunction has been implicated in various diseases, highlighting the importance of this gene in maintaining normal vision and overall health. Further research is needed to fully elucidate the role of RDH8 in human disease and to develop therapeutic strategies to target this enzyme.

Genular Protein ID: 964522292

Symbol: RDH8_HUMAN

Name: Retinol dehydrogenase 8

UniProtKB Accession Codes:

Q9NYR8 Q9H838

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 6 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 2 Ensembl 1 ExpressionAtlas 1 GO 9 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIRSF 1 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 1 SMR 1 STRING 1 SUPFAM 1 TopDownProteomics 1 TreeFam 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 10753906

Title: 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.

PubMed ID: 10753906

DOI: 10.1074/jbc.275.15.11034

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 311
  • Mass: 33755
  • Checksum: D62416D1F0377ECE
  • Sequence:
    • MAAAPRTVLI SGCSSGIGLE LAVQLAHDPK KRYQVVATMR DLGKKETLEA AAGEALGQTL 
TVAQLDVCSD ESVAQCLSCI QGEVDVLVNN AGMGLVGPLE GLSLAAMQNV FDTNFFGAVR 
LVKAVLPGMK RRRQGHIVVI SSVMGLQGVI FNDVYAASKF ALEGFFESLA IQLLQFNIFI 
SLVEPGPVVT EFEGKLLAQV SMAEFPGTDP ETLHYFRDLY LPASRKLFCS VGQNPQDVVQ 
AIVNVISSTR PPLRRQTNIR YSPLTTLKTV DSSGSLYVRT THRLLFRCPR LLNLGLQCLS 
CGCLPTRVRP R

Genular Protein ID: 1131239739

Symbol: K7ELF7_HUMAN

Name: N/A

UniProtKB Accession Codes:

K7ELF7

Database IDs:

ARBA 2 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 8 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 5 Gene3D 1 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 4 KEGG 1 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRNR 1 PIRSF 1 PIRSR 2 PRINTS 2 PROSITE 1 Pfam 1 PhylomeDB 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 Rhea 1 RuleBase 1 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 331
  • Mass: 35805
  • Checksum: A6985B2A9E2B3471
  • Sequence:
    • MNGQSQVLPG GGHESREGIN MAAAPRTVLI SGCSSGIGLE LAVQLAHDPK KRYQVVATMR 
DLGKKETLEA AAGEALGQTL TVAQLDVCSD ESVAQCLSCI QGEVDVLVNN AGMGLVGPLE 
GLSLAAMQNV FDTNFFGAVR LVKAVLPGMK RRRQGHIVVI SSVMGLQGVI FNDVYAASKF 
ALEGFFESLA IQLLQFNIFI SLVEPGPVVT EFEGKLLAQV SMAEFPGTDP ETLHYFRDLY 
LPASRKLFCS VGQNPQDVVQ AIVNVISSTR PPLRRQTNIR YSPLTTLKTV DSSGSLYVRT 
THRLLFRCPR LLNLGLQCLS CGCLPTRVRP R

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.