Gene Gene information from NCBI Gene database.
Entrez ID 112724
Gene name Retinol dehydrogenase 13
Gene symbol RDH13
Synonyms (NCBI Gene)
SDR7C3
Chromosome 19
Chromosome location 19q13.42
Summary This gene encodes a mitochondrial short-chain dehydrogenase/reductase, which catalyzes the reduction and oxidation of retinoids. The encoded enzyme may function in retinoic acid production and may also protect the mitochondria against oxidative stress. Al
miRNA miRNA information provided by mirtarbase database.
256
miRTarBase ID miRNA Experiments Reference
MIRT020877 hsa-miR-155-5p Proteomics 18668040
MIRT709169 hsa-miR-1228-3p HITS-CLIP 19536157
MIRT676584 hsa-miR-3653-5p HITS-CLIP 19536157
MIRT709168 hsa-miR-1976 HITS-CLIP 19536157
MIRT709167 hsa-miR-377-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IBA
GO:0005743 Component Mitochondrial inner membrane IDA 18039331
GO:0005743 Component Mitochondrial inner membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NBN7
Protein name Retinol dehydrogenase 13 (EC 1.1.1.300) (Short chain dehydrogenase/reductase family 7C member 3)
Protein function Retinol dehydrogenase with a clear preference for NADP. Oxidizes all-trans-retinol, but seems to reduce all-trans-retinal with much higher efficiency (PubMed:18039331). Has no activity toward steroids (PubMed:18039331). {ECO:0000269|PubMed:18039
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00106 adh_short 39 242 short chain dehydrogenase Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed (PubMed:18039331). In the retina, detected in the inner segment of the photoreceptor cells. Weak signals are observed in a small population of inner nuclear neurons and the inner plexiform layer (PubMed:12226107). {ECO
Sequence
Sequence length 331
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Retinol metabolism
Metabolic pathways
Biosynthesis of cofactors
  RA biosynthesis pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AORTIC DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NECROSIS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations