DHRS7B Gene - Dehydrogenase/Reductase 7B
A member of the short-chain dehydrogenase/reductase (SDR) family involved in retinoid metabolism and potential tumor suppression.
Gene Information Card
| Symbol | DHRS7B |
|---|---|
| Full Name | Dehydrogenase/Reductase 7B |
| Gene Type | Protein coding |
| Chromosomal Location | 17p11.2 |
| NCBI Gene ID | 25979 ncbi.nlm.nih.gov/gene/25979 |
| Ensembl ID | ENSG00000109016 |
| UniProt ID | Q6IAN0 |
| OMIM ID | 612830 |
| HGNC ID | 28623 |
| Aliases | SDR32C1, CGI-86, DKFZp434B061, PRO1866 |
Description
DHRS7B (dehydrogenase/reductase 7B) encodes a member of the short-chain dehydrogenase/reductase (SDR) family. The protein is localized to the endoplasmic reticulum and functions as an NAD(P)H-dependent oxidoreductase, potentially involved in the metabolism of retinoids and other small molecules. It has been implicated in cellular processes such as proliferation and differentiation, and may act as a tumor suppressor in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Reduced DHRS7B expression correlates with poor prognosis; potential tumor suppressor role via retinoid metabolism | PMID: 25620004 |
| Prostate cancer | Downregulation of DHRS7B associated with aggressive disease; may regulate androgen receptor signaling | PMID: 27107049 |
| Retinoid metabolism disorders | Enzyme activity in retinoid oxidation/reduction pathways; mutations may disrupt vitamin A homeostasis | UniProt annotation |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Breast | 8.1 | Low |
| Prostate | 7.4 | Low |
| Testis | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 9.3 | Moderate expression |
| LNCaP (prostate cancer) | 7.8 | Low expression |
| HepG2 (liver cancer) | 11.0 | Medium expression |
| HEK293 (embryonic kidney) | 10.5 | Medium expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.01% in gnomAD | Unknown functional effect |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% in gnomAD | Predicted damaging (SIFT) |
| c.1A>G (p.Met1Val) | Start loss | <0.01% in gnomAD | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutation (p.Met1Val) likely abolishes protein translation; missense variants may reduce enzymatic activity.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data:
Gene Ontology (GO)
| • oxidoreductase activity | • NADPH binding |
| • retinol dehydrogenase activity | • endoplasmic reticulum membrane |
| • metabolic process |
Pathways
• Retinol metabolism (Reactome: R-HSA-975634)
• Metabolism of vitamins and cofactors (Reactome: R-HSA-196854)
Protein Summary
DHRS7B is a 317-amino acid protein belonging to the SDR family. It contains a conserved Rossmann fold for NAD(P)H cofactor binding and a catalytic triad typical of SDR enzymes. The protein is anchored to the endoplasmic reticulum membrane via an N-terminal transmembrane domain. It catalyzes the reduction of carbonyl groups and may participate in the inactivation of retinoids, thereby influencing cellular differentiation and proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DHRS7B Knockout HEK293 Cell Line | EDJ-KQ8335 | Human | 25979 | Details Get a Quote |
| DHRS7B Knockout A-549 Cell Line | EDJ-KQ34335 | Human | 25979 | Details Get a Quote |
| DHRS7B Knockout HCT 116 Cell Line | EDJ-KQ34336 | Human | 25979 | Details Get a Quote |
| DHRS7B Knockout HeLa Cell Line | EDJ-KQ34337 | Human | 25979 | Details Get a Quote |