DHRS7C Dehydrogenase/Reductase 7C
A member of the short-chain dehydrogenase/reductase (SDR) family with potential roles in cellular metabolism and disease.
Gene Information Card
| Symbol | DHRS7C |
|---|---|
| Full Name | Dehydrogenase/Reductase 7C |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 25970 ncbi.nlm.nih.gov/gene/25970 |
| Ensembl ID | ENSG00000108784 |
| UniProt ID | Q6IAA8 |
| OMIM ID | 615193 |
| HGNC ID | 25325 |
| Aliases | SDR32C1, FLJ22662 |
Description
DHRS7C (Dehydrogenase/Reductase 7C) is a protein-coding gene belonging to the short-chain dehydrogenase/reductase (SDR) superfamily. SDR enzymes are involved in the metabolism of steroids, prostaglandins, retinoids, and other lipids. DHRS7C is predicted to function as an oxidoreductase, catalyzing the NAD(P)H-dependent reduction of carbonyl groups. Its expression is enriched in certain tissues, suggesting specialized metabolic roles.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No direct disease associations reported | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 8.3 | Low |
| Liver | 2.1 | Low |
| Kidney | 1.5 | Not detected |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 5.0 | Moderate expression |
| HepG2 | 2.3 | Low expression |
| K562 | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; effect unknown |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Rare variant; no functional data |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
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 | • NADP binding |
| • metabolic process |
Pathways
• Metabolic pathways
• Steroid hormone biosynthesis (predicted)
Protein Summary
The DHRS7C protein is a predicted short-chain dehydrogenase/reductase of approximately 34 kDa. It contains a conserved Rossmann fold for NAD(P)H cofactor binding and a catalytic triad typical of SDR enzymes. Its exact substrates remain unknown, but it may participate in lipid or steroid metabolism. Structural models suggest a cytoplasmic localization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DHRS7C Knockout HEK293 Cell Line | EDJ-KQ4718 | Human | 201140 | Details Get a Quote |
| DHRS7C Knockout HeLa Cell Line | EDJ-KQ59017 | Human | 201140 | Details Get a Quote |
| DHRS7C Knockout A-549 Cell Line | EDJ-KQ67496 | Human | 201140 | Details Get a Quote |
| DHRS7C Knockout HCT 116 Cell Line | EDJ-KQ75894 | Human | 201140 | Details Get a Quote |
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