RDH5 (retinol dehydrogenase 5)

Gene

• Entrez ID: 5959
• Gene name: Retinol dehydrogenase 5
• Gene symbol: RDH5
• Synonyms (NCBI Gene): 9cRDH, HSD17B9, RDH1, SDR9C5
• Chromosome: 12
• Chromosome location: 12q13.2
• Summary: 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 pigm

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018312	hsa-miR-335-5p	Microarray	18185580
MIRT1299116	hsa-miR-2355-3p	CLIP-seq
MIRT1299117	hsa-miR-3973	CLIP-seq
MIRT1299118	hsa-miR-520g	CLIP-seq
MIRT1299119	hsa-miR-520h	CLIP-seq
MIRT1299120	hsa-miR-676	CLIP-seq
MIRT2313890	hsa-miR-2682	CLIP-seq
MIRT2313891	hsa-miR-449c	CLIP-seq
MIRT2313892	hsa-miR-4514	CLIP-seq
MIRT2313893	hsa-miR-4645-5p	CLIP-seq
MIRT2313894	hsa-miR-4673	CLIP-seq
MIRT2313895	hsa-miR-4692	CLIP-seq
MIRT2313896	hsa-miR-4733-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	IBA
GO:0001523	Process	Retinoid metabolic process	IDA	9931293
GO:0001523	Process	Retinoid metabolic process	IEA
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	IBA
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	IDA	11675386
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	IEA
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	TAS	9115228
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IDA	11675386
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	11675386
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	10369264
GO:0008202	Process	Steroid metabolic process	IBA
GO:0008202	Process	Steroid metabolic process	IDA	9931293
GO:0008202	Process	Steroid metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0042572	Process	Retinol metabolic process	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	11675386
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0044297	Component	Cell body	IEA
GO:0047023	Function	Androsterone dehydrogenase [NAD(P)+] activity	IDA	9931293
GO:0047023	Function	Androsterone dehydrogenase [NAD(P)+] activity	IEA
GO:0047044	Function	Androstan-3-alpha,17-beta-diol dehydrogenase (NAD+) activity	IDA	9931293
GO:0047044	Function	Androstan-3-alpha,17-beta-diol dehydrogenase (NAD+) activity	IEA
GO:0106429	Function	11-cis-retinol dehydrogenase (NAD+) activity	IEA

Other IDs

• MIM: 601617
• HGNC: 9940
• e!Ensembl: ENSG00000135437

Protein

• UniProt ID: Q92781
• Protein name: Retinol dehydrogenase 5 (EC 1.1.1.209) (EC 1.1.1.315) (EC 1.1.1.53) (11-cis retinol dehydrogenase) (11-cis RDH) (11-cis RoDH) (9-cis retinol dehydrogenase) (9cRDH) (Short chain dehydrogenase/reductase family 9C member 5)
• Protein function: Catalyzes the oxidation of cis-isomers of retinol, including 11-cis-, 9-cis-, and 13-cis-retinol in an NAD-dependent manner (PubMed:10588954, PubMed:11675386, PubMed:9115228, PubMed:9931293). Has no activity towards all-trans retinal (By similar
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00106	adh_short	29 → 221	short chain dehydrogenase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. In the eye, abundant in the retinal pigment epithelium. {ECO:0000269|PubMed:9115228, ECO:0000269|PubMed:9931293}.
• Sequence:

  MWLPLLLGALLWAVLWLLRDRQSLPASNAFVFITGCDSGFGRLLALQLDQRGFRVLASCL
  TPSGAEDLQRVASSRLHTTLLDITDPQSVQQAAKWVEMHVKEAGLFGLVNNAGVAGIIGP
  TPWLTRDDFQRVLNVNTMGPIGVTLALLPLLQQARGRVINITSVLGRLAANGGGYCVSKF
  GLEAFSDSLRRDVAHFGIRVSIVEPGFFRTPVTNLESLEKTLQACWARLPPATQAHYGGA
  FLTKYLKMQQRIMNLICDPDLTKVSRCLEHALTARHPRTRYSPGWDAKLLWLPASYLPAS
  LVDAVLTWVLPKPAQAVY

• Sequence length: 318

Pathways

KEGG:

Retinol metabolism
Metabolic pathways

Reactome:

Retinoid cycle disease events
The canonical retinoid cycle in rods (twilight vision)
RA biosynthesis pathway

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Congenital stationary night blindness	Likely pathogenic; Pathogenic	rs62638191, rs62638193	RCV003324486 RCV003324487	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fundus albipunctatus, autosomal recessive	Likely pathogenic; Pathogenic	rs774122562, rs62638191, rs62638193, rs111033593, rs62638194, rs267607006, rs104894374	RCV000844920 RCV000008467 RCV000008469 RCV000008470 RCV000008472 RCV000008473 RCV000008474	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pigmentary retinal dystrophy	Pathogenic; Likely pathogenic	rs2136142116, rs769619405, rs774122562, rs62638191, rs62638193, rs111033593, rs267607006, rs104894374, rs781112960, rs769035379, rs199877211, rs1565653781, rs377029071, rs776634113, rs1592521438, rs1592521712, rs375135224, rs1876913255, rs759359491, rs375788435	RCV001784905 RCV005238169 RCV000190620 RCV000988861 RCV000779108 RCV001003165 RCV005411282 RCV002247275 RCV005008178 RCV001003160 RCV004701403 RCV000761555 RCV000786016 RCV001003159 RCV001003161 RCV001003162 RCV005012540 RCV001196268 RCV004699201 RCV005012660	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RDH5-related disorder	Likely pathogenic; Pathogenic	rs62638191	RCV003390658	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs763855790, rs62638191, rs781112960, rs375135224	RCV004816820 RCV004814863 RCV000225623 RCV001074690	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis punctata albescens	Likely pathogenic; Pathogenic	rs62638191, rs753378940	RCV005357098 RCV001003164	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATROPHIC MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGENERATION OF MACULA AND POSTERIOR POLE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINAL DETACHMENT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	22559933		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	11812441, 12788147		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	30535121	Associate	★☆☆☆☆ Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	22559933		★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	Pubtator	30747064	Associate	★☆☆☆☆ Found in Text Mining only
Atrophoderma maculatum	Anetoderma	BEFREE	12967826		★☆☆☆☆ Found in Text Mining only
Atrophoderma maculatum	Anetoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24376576	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32788868	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	15190067	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24599561	Inhibit	★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone Dystrophy	BEFREE	11053295, 11448328, 15302662		★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	30535121	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	28962184		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	11675386		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	22559933		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
exudative macular degeneration	Exudative macular degeneration	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
Eye Diseases, Hereditary	Eye Diseases	BEFREE	8884265		★☆☆☆☆ Found in Text Mining only
Fundus Albipunctatus	Fundus Albipunctatus	BEFREE	10369264, 10617778, 10825191, 10845614, 11053295, 11053296, 11078852, 11153648, 11448328, 11470705, 11675386, 11812441, 12788147, 12967826, 15007239, 15790919, 18363170, 20829743, 21529959, 22736946, 24246574, 25170858, 25820994, 28654958		★☆☆☆☆ Found in Text Mining only
Fundus Albipunctatus	Fundus Albipunctatus	UNIPROT_DG	10369264, 10617778, 11053295, 11053296, 11078852, 11470705, 11675386, 12788147, 12967826, 22736946, 24603341, 25820994, 28418496		★☆☆☆☆ Found in Text Mining only
Fundus Albipunctatus	Fundus Albipunctatus	CLINVAR_DG	10617778, 11053295, 11078852, 11470705, 11675386, 15007239, 15302662, 20829743, 21529959, 22669287		★☆☆☆☆ Found in Text Mining only
Fundus Albipunctatus	Fundus Albipunctatus	GENOMICS_ENGLAND_DG	21529959		★☆☆☆☆ Found in Text Mining only
Fundus Albipunctatus	Fundus Albipunctatus	ORPHANET_DG	22736946, 25820994		★☆☆☆☆ Found in Text Mining only
Fundus albipunctatus	Fundus Albipunctatus	Orphanet			★☆☆☆☆ Found in Text Mining only
Fundus Albipunctatus	Fundus Albipunctatus	CTD_human_DG	25526675		★☆☆☆☆ Found in Text Mining only
Fundus Albipunctatus	Fundus Albipunctatus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	30535121	Associate	★☆☆☆☆ Found in Text Mining only
Lenticonus	Lenticonus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	30747064, 31123710	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular dystrophy	Macular dystrophy	BEFREE	11812441, 12788147		★☆☆☆☆ Found in Text Mining only
Macular Edema, Cystoid	Cystoid macular edema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21303972		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	30788515		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CTD_human_DG	23396134		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	Pubtator	23468642, 30535121	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	BEFREE	25335978		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	GWASCAT_DG	27182965		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	Pubtator	31123710	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia Degenerative	Myopia	Pubtator	30747064	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30535121	Associate	★☆☆☆☆ Found in Text Mining only
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	10617778, 34781300	Associate	★☆☆☆☆ Found in Text Mining only
Night blindness, congenital stationary	Night blindness	BEFREE	10617778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	GENOMICS_ENGLAND_DG	21529959		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nyctalopia	Nyctalopia	BEFREE	11053295, 21529959, 25820994		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	LHGDN	12906118, 16637847		★☆☆☆☆ Found in Text Mining only
Oguchi disease	Oguchi Disease	BEFREE	10617778		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	30535121	Associate	★☆☆☆☆ Found in Text Mining only
Progressive Cone Dystrophy	Cone Dystrophy	BEFREE	11053295, 11448328		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21303972		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	11470705, 21529959, 25170858		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	10369264, 11078852, 15007239, 18363170		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	18363170		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis punctata albescens	Retinitis Punctata Albescens	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis punctata albescens (disorder)	Retinitis punctata albescens	BEFREE	10369264		★☆☆☆☆ Found in Text Mining only
Retinitis punctata albescens (disorder)	Retinitis punctata albescens	CTD_human_DG	25526675		★☆☆☆☆ Found in Text Mining only
Retinitis punctata albescens (disorder)	Retinitis punctata albescens	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	30535121	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24376576	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	28469731	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32471192	Associate	★☆☆☆☆ Found in Text Mining only
Variegate Porphyria	Variegate Porphyria	BEFREE	28654958		★☆☆☆☆ Found in Text Mining only