DHRS12: Dehydrogenase/Reductase 12
A short-chain dehydrogenase/reductase family member with potential roles in lipid metabolism and cellular signaling.
Gene Information Card
| Symbol | DHRS12 |
|---|---|
| Full Name | Dehydrogenase/Reductase 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.3 |
| NCBI Gene ID | 79758 ncbi.nlm.nih.gov/gene/79758 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q96LJ7 |
| OMIM ID | 616158 |
| HGNC ID | 25373 |
| Aliases | SDR36C1, FLJ11273 |
Description
DHRS12 (Dehydrogenase/Reductase 12) is a member of the short-chain dehydrogenases/reductases (SDR) family. It encodes a protein predicted to function in oxidoreductase activity, potentially involved in lipid and steroid metabolism. The gene is located on chromosome 13q14.3, a region frequently altered in various cancers. Expression data suggest broad tissue distribution with highest levels in the liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Altered expression and potential role in lipid metabolism; limited direct evidence. | COSMIC; NCBI Gene |
| Prostate cancer | Located in a region of loss of heterozygosity; potential tumor suppressor role. | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Testis | 7.2 | Low |
| Lung | 5.1 | Low |
| Brain | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| HEK293 | 6.8 | Embryonic kidney cells |
| A549 | 4.5 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.01% | Unknown; predicted benign by in silico tools |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Unknown; predicted possibly damaging |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • oxidoreductase activity (GO:0016491) | • oxidation-reduction process (GO:0055114) |
| • endoplasmic reticulum (GO:0005783) |
Pathways
• Metabolic pathways (Reactome)
Protein Summary
The DHRS12 protein is a predicted short-chain dehydrogenase/reductase of 317 amino acids. It contains a conserved NAD(P)-binding domain and is localized to the endoplasmic reticulum. Its exact substrates remain unknown, but it is hypothesized to participate in the metabolism of retinoids, steroids, or other lipids. Structural studies are limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DHRS12 Knockout HEK293 Cell Line | EDJ-KQ13148 | Human | 79758 | Details Get a Quote |
| DHRS12 Knockout A-549 Cell Line | EDJ-KQ42477 | Human | 79758 | Details Get a Quote |
| DHRS12 Knockout HCT 116 Cell Line | EDJ-KQ42478 | Human | 79758 | Details Get a Quote |
| DHRS12 Knockout HeLa Cell Line | EDJ-KQ42479 | Human | 79758 | Details Get a Quote |
