Gene Gene information from NCBI Gene database.
Entrez ID 9249
Gene name Dehydrogenase/reductase 3
Gene symbol DHRS3
Synonyms (NCBI Gene)
CNALPTC1DD83.1RDH17Rsdr1SDR1SDR16C1retSDR1
Chromosome 1
Chromosome location 1p36.21
Summary Short-chain dehydrogenases/reductases (SDRs), such as DHRS3, catalyze the oxidation/reduction of a wide range of substrates, including retinoids and steroids (Haeseleer and Palczewski, 2000 [PubMed 10800688]).[supplied by OMIM, Jun 2009]
miRNA miRNA information provided by mirtarbase database.
284
miRTarBase ID miRNA Experiments Reference
MIRT017134 hsa-miR-335-5p Microarray 18185580
MIRT022260 hsa-miR-124-3p Microarray 18668037
MIRT049042 hsa-miR-92a-3p CLASH 23622248
MIRT645338 hsa-miR-4719 HITS-CLIP 23824327
MIRT645337 hsa-miR-7110-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding TAS 9705317
GO:0001523 Process Retinoid metabolic process IBA
GO:0001523 Process Retinoid metabolic process IEA
GO:0001523 Process Retinoid metabolic process TAS
GO:0003151 Process Outflow tract morphogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612830 17693 ENSG00000162496
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75911
Protein name Short-chain dehydrogenase/reductase 3 (EC 1.1.1.300) (DD83.1) (Retinal short-chain dehydrogenase/reductase 1) (retSDR1) (Retinol dehydrogenase 17) (Short chain dehydrogenase/reductase family 16C member 1)
Protein function Catalyzes the reduction of all-trans-retinal to all-trans-retinol in the presence of NADPH.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00106 adh_short 39 233 short chain dehydrogenase Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest levels found in heart, placenta, lung, liver, kidney, pancreas, thyroid, testis, stomach, trachea and spinal cord. Lower levels found in skeletal muscle, intestine and lymph node. No expression detected in
Sequence
Sequence length 302
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Retinol metabolism
Metabolic pathways
Biosynthesis of cofactors
  The retinoid cycle in cones (daylight vision)
RA biosynthesis pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
CRANIOSYNOSTOSIS Disgenet, GenCC
Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DHRS3-related disorder Uncertain significance; Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ADULT SYNDROME ADULT Syndrome BEFREE 20543567
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 18854940 Associate
★☆☆☆☆
Found in Text Mining only
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) Endplate acetylcholinesterase deficiency BEFREE 30486871
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophageal neoplasm Pubtator 30758105 Stimulate
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 11861404, 21659514
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 20543567
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma BEFREE 11861404
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma Pubtator 21314941, 36231133 Associate
★☆☆☆☆
Found in Text Mining only
Obesity Obesity BEFREE 21659514
★☆☆☆☆
Found in Text Mining only
Osteoarthritis Osteoarthritis Pubtator 33691763 Associate
★☆☆☆☆
Found in Text Mining only