SDR16C5
Short-chain dehydrogenase/reductase family 16C member 5
Gene Information Card
| Symbol | SDR16C5 |
|---|---|
| Full Name | Short chain dehydrogenase/reductase family 16C member 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q12.1 |
| NCBI Gene ID | 195814 ncbi.nlm.nih.gov/gene/195814 |
| Ensembl ID | ENSG00000188690 |
| UniProt ID | Q8N3Y7 |
| OMIM ID | 615796 |
| HGNC ID | 30315 |
| Aliases | RDHE2, SDR16C5, retinol dehydrogenase 2 (epididymal) |
Description
SDR16C5 encodes a member of the short-chain dehydrogenase/reductase (SDR) family. The enzyme functions as a retinol dehydrogenase, catalyzing the oxidation of all-trans-retinol to all-trans-retinal, a key step in retinoic acid biosynthesis. It is expressed in the epididymis and other tissues, and may play a role in spermatogenesis and vitamin A metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated in ClinVar or OMIM | Not applicable | Not applicable |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Epididymis | 12.5 | Medium |
| Testis | 8.2 | Medium |
| Kidney | 4.1 | Low |
| Liver | 2.3 | Low |
| Prostate | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.0 | Moderate expression |
| HepG2 | 2.1 | Low expression |
| A549 | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function variants in ClinVar or COSMIC.
Gain of Function (GOF)
No documented gain-of-function variants.
Dominant Negative (DN)
No documented dominant-negative variants.
View complete mutation data：
Gene Ontology (GO)
| • retinol dehydrogenase activity (GO:0004745) | • oxidation-reduction process (GO:0055114) |
| • retinoid metabolic process (GO:0001523) | • integral component of membrane (GO:0016021) |
Pathways
• Retinol metabolism (Reactome: R-HSA-5365859)
• Vitamin A and carotenoid metabolism (KEGG: hsa00830)
Protein Summary
SDR16C5 is a 317-amino acid membrane-bound short-chain dehydrogenase/reductase. It contains a conserved NAD(P)-binding domain and a catalytic tetrad (Asn-Ser-Tyr-Lys). The enzyme specifically oxidizes all-trans-retinol to all-trans-retinal, contributing to retinoic acid synthesis. It is localized to the endoplasmic reticulum and is highly expressed in the epididymis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SDR16C5 Knockout HEK293 Cell Line | EDJ-KQ15209 | Human | 195814 | Details Get a Quote |
| SDR16C5 Knockout HCT 116 Cell Line | EDJ-KQ45859 | Human | 195814 | Details Get a Quote |
| SDR16C5 Knockout HeLa Cell Line | EDJ-KQ58962 | Human | 195814 | Details Get a Quote |
| SDR16C5 Knockout A-549 Cell Line | EDJ-KQ67449 | Human | 195814 | Details Get a Quote |
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