DHRS4: Dehydrogenase/Reductase 4
A short-chain dehydrogenase/reductase involved in retinol metabolism and peroxisomal function.
Gene Information Card
| Symbol | DHRS4 |
|---|---|
| Full Name | Dehydrogenase/Reductase 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 10901 ncbi.nlm.nih.gov/gene/10901 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9BTZ2 |
| OMIM ID | 611283 |
| HGNC ID | 28720 |
| Aliases | SDR25C1, DRS4, FLJ12529 |
Description
DHRS4 encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The protein localizes to peroxisomes and functions in the metabolism of retinoids, specifically the reduction of all-trans-retinal to all-trans-retinol. It may also participate in the metabolism of other lipid substrates. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinal dystrophy (potential) | Impaired retinol metabolism due to loss of DHRS4 activity may disrupt the visual cycle. | Limited; inferred from functional homology and retinol pathway. |
| Cancer (various types) | Altered expression of DHRS4 has been observed in some cancers, potentially affecting retinoid signaling. | COSMIC database reports somatic mutations in several cancer types. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small intestine | 6.1 | Low |
| Adrenal gland | 5.4 | Low |
| Testis | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK 293 | 9.8 | Embryonic kidney cells |
| A549 | 7.1 | Lung carcinoma cell line |
| MCF7 | 3.5 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of start codon; predicted loss of function. |
| c.287G>A (p.Arg96Gln) | Missense | Rare | Substitution in conserved SDR domain; functional impact unknown. |
| c.502C>T (p.Arg168Trp) | Missense | Rare | Substitution in C-terminal region; uncertain significance. |
Mutation functional classification
Loss of Function (LOF)
Predicted for variants that disrupt the start codon or the conserved catalytic residues.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • oxidoreductase activity (GO:0016491) | • retinol dehydrogenase activity (GO:0004745) |
| • peroxisome (GO:0005777) | • retinoid metabolic process (GO:0001523) |
| • oxidation-reduction process (GO:0055114) |
Pathways
• Retinol metabolism (Reactome: R-HSA-975634)
• Metabolism of lipids (Reactome: R-HSA-556833)
Protein Summary
DHRS4 is a 35 kDa peroxisomal short-chain dehydrogenase/reductase that catalyzes the NADP-dependent reduction of all-trans-retinal to all-trans-retinol. It is expressed in tissues with high retinoid turnover, such as liver and kidney. The enzyme may also act on other carbonyl-containing substrates. Structural studies indicate a typical SDR fold with a Rossmann fold cofactor-binding domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DHRS4 Knockout HEK293 Cell Line | EDJ-KQ7208 | Human | 10901 | Details Get a Quote |
| DHRS4L2 Knockout HEK293 Cell Line | EDJ-KQ8903 | Human | 317749 | Details Get a Quote |
| DHRS4 Knockout A-549 Cell Line | EDJ-KQ32149 | Human | 10901 | Details Get a Quote |
| DHRS4 Knockout HeLa Cell Line | EDJ-KQ32151 | Human | 10901 | Details Get a Quote |
| DHRS4 Knockout HCT 116 Cell Line | EDJ-KQ30777 | Human | 10901 | Details Get a Quote |
| DHRS4L2 Knockout A-549 Cell Line | EDJ-KQ35247 | Human | 317749 | Details Get a Quote |
| DHRS4L2 Knockout HCT 116 Cell Line | EDJ-KQ35248 | Human | 317749 | Details Get a Quote |
| DHRS4L2 Knockout HeLa Cell Line | EDJ-KQ35249 | Human | 317749 | Details Get a Quote |
