RDH8 (retinol dehydrogenase 8)

Gene

• Entrez ID: 50700
• Gene name: Retinol dehydrogenase 8
• Gene symbol: RDH8
• Synonyms (NCBI Gene): PRRDH, SDR28C2, STGD5
• Chromosome: 19
• Chromosome location: 19p13.2
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1299121	hsa-miR-1	CLIP-seq
MIRT1299122	hsa-miR-206	CLIP-seq
MIRT1299123	hsa-miR-3160-5p	CLIP-seq
MIRT1299124	hsa-miR-3190	CLIP-seq
MIRT1299125	hsa-miR-3673	CLIP-seq
MIRT1299126	hsa-miR-4491	CLIP-seq
MIRT1299127	hsa-miR-4657	CLIP-seq
MIRT1299128	hsa-miR-4709-3p	CLIP-seq
MIRT1299129	hsa-miR-4780	CLIP-seq
MIRT1299130	hsa-miR-576-3p	CLIP-seq
MIRT1299131	hsa-miR-613	CLIP-seq
MIRT1299132	hsa-miR-623	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004303	Function	Estradiol 17-beta-dehydrogenase [NAD(P)+] activity	IEA
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	IBA
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	IEA
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	TAS	10753906
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005886	Component	Plasma membrane	TAS	10753906
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006694	Process	Steroid biosynthetic process	TAS	10753906
GO:0006703	Process	Estrogen biosynthetic process	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	10753906
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0042572	Process	Retinol metabolic process	IBA
GO:0042572	Process	Retinol metabolic process	IEA
GO:0052650	Function	All-trans-retinol dehydrogenase (NADP+) activity	IEA

Other IDs

• MIM: 608575
• HGNC: 14423
• e!Ensembl: ENSG00000080511

Protein

• UniProt ID: Q9NYR8
• Protein name: Retinol dehydrogenase 8 (EC 1.1.1.300) (Photoreceptor outer segment all-trans retinol dehydrogenase) (Short chain dehydrogenase/reductase family 28C member 2)
• Protein 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).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00106	adh_short	6 → 201	short chain dehydrogenase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in photoreceptor outer segments in the retina (at protein level). {ECO:0000269|PubMed:10753906}.
• Sequence:

  MAAAPRTVLISGCSSGIGLELAVQLAHDPKKRYQVVATMRDLGKKETLEAAAGEALGQTL
  TVAQLDVCSDESVAQCLSCIQGEVDVLVNNAGMGLVGPLEGLSLAAMQNVFDTNFFGAVR
  LVKAVLPGMKRRRQGHIVVISSVMGLQGVIFNDVYAASKFALEGFFESLAIQLLQFNIFI
  SLVEPGPVVTEFEGKLLAQVSMAEFPGTDPETLHYFRDLYLPASRKLFCSVGQNPQDVVQ
  AIVNVISSTRPPLRRQTNIRYSPLTTLKTVDSSGSLYVRTTHRLLFRCPRLLNLGLQCLS
  CGCLPTRVRPR

• Sequence length: 311

Pathways

KEGG:

Retinol metabolism
Metabolic pathways

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Essential Hypertension	Associate	34297769	★☆☆☆☆ Found in Text Mining only
Hypertension	Associate	34297769	★☆☆☆☆ Found in Text Mining only
Myopia	Associate	21043051	★☆☆☆☆ Found in Text Mining only