DHRS4L2 Gene - Dehydrogenase/Reductase 4 Like 2
Comprehensive genomic and functional analysis of DHRS4L2, a member of the short-chain dehydrogenase/reductase superfamily.
Gene Information Card
| Symbol | DHRS4L2 |
|---|---|
| Full Name | Dehydrogenase/Reductase 4 Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 317749 ncbi.nlm.nih.gov/gene/317749 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q6PKH6 |
| OMIM ID | 614636 |
| HGNC ID | 26897 |
| Aliases | SDR25C1, FLJ32709, MGC16384 |
Description
DHRS4L2 (Dehydrogenase/Reductase 4 Like 2) is a protein-coding gene belonging to the short-chain dehydrogenase/reductase (SDR) superfamily. It is located on chromosome 14q11.2 and encodes a 317-amino acid protein with oxidoreductase activity. The gene is expressed in multiple tissues, with highest levels in the liver and kidney. Its biological function may involve metabolism of steroids, retinoids, or xenobiotics, though specific substrates remain to be fully characterized.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No direct evidence from ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Testis | 6.1 | Low |
| Adrenal gland | 5.4 | Low |
| Small intestine | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| HEK293 | 7.5 | Embryonic kidney cells |
| A549 | 4.1 | Lung carcinoma cells |
| MCF7 | 3.8 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations in ClinVar or COSMIC.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No documented dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • oxidoreductase activity (GO:0016491) | • oxidation-reduction process (GO:0055114) |
| • cytoplasm (GO:0005737) |
Pathways
• Metabolic pathways (Reactome: R-HSA-1430728)
Protein Summary
The DHRS4L2 protein (UniProt Q6PKH6) is a 317-amino acid member of the short-chain dehydrogenase/reductase (SDR) family. It contains a conserved NAD(P)-binding Rossmann fold domain and is predicted to function as an oxidoreductase, potentially metabolizing small molecules such as steroids or retinoids. Subcellular localization is cytoplasmic. No 3D structure has been experimentally determined.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DHRS4L2 Knockout HEK293 Cell Line | EDJ-KQ8903 | Human | 317749 | 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 |
