Gene Gene information from NCBI Gene database.
Entrez ID 195814
Gene name Short chain dehydrogenase/reductase family 16C member 5
Gene symbol SDR16C5
Synonyms (NCBI Gene)
EPHD-2RDH#2RDH-E2RDHE2retSDR2
Chromosome 8
Chromosome location 8q12.1
Summary This gene encodes a member of the short-chain alcohol dehydrogenase/reductase superfamily of proteins and is involved in the oxidation of retinol to retinaldehyde. The encoded protein is associated with the endoplasmic reticulum and is predicted to contai
miRNA miRNA information provided by mirtarbase database.
59
miRTarBase ID miRNA Experiments Reference
MIRT018359 hsa-miR-335-5p Microarray 18185580
MIRT534448 hsa-miR-330-3p PAR-CLIP 22012620
MIRT534447 hsa-miR-6835-3p PAR-CLIP 22012620
MIRT534446 hsa-miR-4422 PAR-CLIP 22012620
MIRT534445 hsa-miR-216a-5p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 16691198
GO:0000785 Component Chromatin IDA 16691198
GO:0003714 Function Transcription corepressor activity IDA 16691198
GO:0004745 Function All-trans-retinol dehydrogenase (NAD+) activity IBA
GO:0004745 Function All-trans-retinol dehydrogenase (NAD+) activity IDA 18926804, 19102727
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608989 30311 ENSG00000170786
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N3Y7
Protein name Epidermal retinol dehydrogenase 2 (EPHD-2) (RDH-E2) (EC 1.1.1.105) (Retinal short-chain dehydrogenase reductase 2) (retSDR2) (Short-chain dehydrogenase/reductase family 16C member 5)
Protein function Oxidoreductase with strong preference for NAD (PubMed:18926804). Active in both the oxidative and reductive directions (PubMed:18926804). Oxidizes all-trans-retinol in all-trans-retinaldehyde (PubMed:18926804). No activity was detected with 11-c
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00106 adh_short 41 238 short chain dehydrogenase Domain
Tissue specificity TISSUE SPECIFICITY: Detected in adult lung. Detected at low levels in adult brain, heart, testis, placenta, cervix, pancreas, uterus, stomach, rectum, small intestine, colon, esophagus, thymus, skin, and skin keratinocyte. Expression is higher in psoriasi
Sequence
Sequence length 309
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.).
3
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
CERVICAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS 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
Laryngeal Neoplasms Laryngeal neoplasm Pubtator 36033826 Associate
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Pancreatic neoplasm Pubtator 33815409 Associate
★☆☆☆☆
Found in Text Mining only
Triple Negative Breast Neoplasms Triple negative breast cancer Pubtator 33879671 Associate
★☆☆☆☆
Found in Text Mining only