RDH16 (retinol dehydrogenase 16)

Gene

• Entrez ID: 8608
• Gene name: Retinol dehydrogenase 16
• Gene symbol: RDH16
• Synonyms (NCBI Gene): RODH-4, RODH4, SDR9C8, hRDH-E
• Chromosome: 12
• Chromosome location: 12q13.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025909	hsa-miR-7-5p	Microarray	17612493
MIRT1299110	hsa-miR-1252	CLIP-seq
MIRT1299111	hsa-miR-3173-3p	CLIP-seq
MIRT1299112	hsa-miR-3689d	CLIP-seq
MIRT1299113	hsa-miR-4654	CLIP-seq
MIRT1299114	hsa-miR-4769-5p	CLIP-seq
MIRT1299115	hsa-miR-509-3p	CLIP-seq
MIRT2088945	hsa-miR-1587	CLIP-seq
MIRT2088946	hsa-miR-2467-5p	CLIP-seq
MIRT2088947	hsa-miR-3188	CLIP-seq
MIRT2088948	hsa-miR-3622b-5p	CLIP-seq
MIRT2088949	hsa-miR-3975	CLIP-seq
MIRT2088950	hsa-miR-4492	CLIP-seq
MIRT2088951	hsa-miR-4498	CLIP-seq
MIRT2088952	hsa-miR-4649-3p	CLIP-seq
MIRT2088953	hsa-miR-4656	CLIP-seq
MIRT2088954	hsa-miR-4675	CLIP-seq
MIRT2088955	hsa-miR-4741	CLIP-seq
MIRT2088956	hsa-miR-485-5p	CLIP-seq
MIRT2088957	hsa-miR-762	CLIP-seq
MIRT2610429	hsa-miR-1200	CLIP-seq
MIRT2610430	hsa-miR-3192	CLIP-seq
MIRT2610431	hsa-miR-4314	CLIP-seq
MIRT2610432	hsa-miR-4324	CLIP-seq
MIRT2610433	hsa-miR-4646-5p	CLIP-seq
MIRT2610434	hsa-miR-544b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	IBA
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	IDA	9677409, 10329026, 12534290
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	IEA
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	TAS	9677409
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	TAS	9677409
GO:0008202	Process	Steroid metabolic process	IBA
GO:0008202	Process	Steroid metabolic process	IDA	9677409
GO:0008202	Process	Steroid metabolic process	IEA
GO:0009055	Function	Electron transfer activity	TAS	9677409
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	IBA
GO:0042572	Process	Retinol metabolic process	IEA
GO:0042802	Function	Identical protein binding	ISS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA	9677409
GO:0043231	Component	Intracellular membrane-bounded organelle	TAS	9677409
GO:0047023	Function	Androsterone dehydrogenase [NAD(P)+] activity	IDA	9677409
GO:0047023	Function	Androsterone dehydrogenase [NAD(P)+] activity	IEA
GO:0047044	Function	Androstan-3-alpha,17-beta-diol dehydrogenase (NAD+) activity	IDA	9677409, 10329026
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: 620043
• HGNC: 29674
• e!Ensembl: ENSG00000139547

Protein

• UniProt ID: O75452
• Protein name: Retinol dehydrogenase 16 (EC 1.1.1.105) (EC 1.1.1.209) (EC 1.1.1.315) (EC 1.1.1.53) (Human epidermal retinol dehydrogenase) (hRDH-E) (Microsomal NAD(+)-dependent retinol dehydrogenase 4) (RoDH-4) (Short chain dehydrogenase/reductase family 9C member 8) (S
• Protein function: Oxidoreductase with a preference for NAD. Oxidizes all-trans-retinol, 9-cis-retinol, 11-cis-retinol and 13-cis-retinol to the corresponding aldehydes (PubMed:10329026, PubMed:12534290, PubMed:9677409). Has higher activity towards CRBP-bound reti
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00106	adh_short	30 → 219	short chain dehydrogenase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in adult liver (at protein level) (PubMed:9677409). Detected in endometrium, liver and foreskin (PubMed:10329026, PubMed:11967490). Detected in the spineous layers of adult skin, and at lower levels in basal and granul
• Sequence:

  MWLYLAVFVGLYYLLHWYRERQVLSHLRDKYVFITGCDSGFGKLLARQLDARGLRVLAAC
  LTEKGAEQLRGQTSDRLETVTLDVTKTESVAAAAQWVKECVRDKGLWGLVNNAGISLPTA
  PNELLTKQDFVTILDVNLLGVIDVTLSLLPLVRRARGRVVNVSSVMGRVSLFGGGYCISK
  YGVEAFSDSLRRELSYFGVKVAMIEPGYFKTAVTSKERFLKSFLEIWDRSSPEVKEAYGE
  KFVADYKKSAEQMEQKCTQDLSLVTNCMEHALIACHPRTRYSAGWDAKLLYLPMSYMPTF
  LVDAIMYWVSPSPAKAL

• Sequence length: 317

Pathways

KEGG:

Retinol metabolism
Metabolic pathways

Reactome:

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Carcinoma Hepatocellular	Associate	36199423, 38057871	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Associate	36199423	★☆☆☆☆ Found in Text Mining only