DHRS9: Dehydrogenase/Reductase 9
A short-chain dehydrogenase/reductase involved in retinoic acid metabolism and potential tumor suppression
Gene Information Card
| Symbol | DHRS9 |
|---|---|
| Full Name | Dehydrogenase/Reductase 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 10170 ncbi.nlm.nih.gov/gene/10170 |
| Ensembl ID | ENSG00000115128 |
| UniProt ID | Q9BPW9 |
| OMIM ID | 612131 |
| HGNC ID | 16887 |
| Aliases | RDHL, SDR34C1, retinol dehydrogenase-like |
Description
DHRS9 encodes a member of the short-chain dehydrogenase/reductase (SDR) family. The enzyme catalyzes the oxidation of retinol to retinaldehyde and the reduction of all-trans-retinal to all-trans-retinol, playing a role in retinoic acid biosynthesis. It is implicated in cellular differentiation and may function as a tumor suppressor in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Reduced DHRS9 expression may impair retinoic acid signaling, promoting tumor progression. | NCBI Gene, PubMed |
| Gastric cancer | Downregulation of DHRS9 is associated with poor prognosis and may contribute to epithelial-mesenchymal transition. | NCBI Gene, PubMed |
| Breast cancer | Altered DHRS9 expression linked to retinoic acid metabolism dysregulation. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small intestine | 6.7 | Medium |
| Colon | 5.2 | Low |
| Stomach | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line |
| Caco-2 | 7.8 | Colorectal adenocarcinoma cell line |
| MCF7 | 3.2 | Breast cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional impact |
| c.100C>T | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of enzyme activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data:
Gene Ontology (GO)
| • retinol dehydrogenase activity (GO:0004745) | • oxidation-reduction process (GO:0055114) |
| • endoplasmic reticulum (GO:0005783) | • oxidoreductase activity (GO:0016620) |
Pathways
• Retinol metabolism (KEGG: hsa00830)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
DHRS9 is a 318-amino acid protein localized to the endoplasmic reticulum. It functions as a retinol dehydrogenase, converting retinol to retinaldehyde in the retinoic acid synthesis pathway. The protein contains a conserved NAD(P)-binding domain characteristic of SDR family members.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DHRS9 Knockout HEK293 Cell Line | EDJ-KQ6930 | Human | 10170 | Details Get a Quote |
| DHRS9 Knockout HeLa Cell Line | EDJ-KQ55334 | Human | 10170 | Details Get a Quote |
| DHRS9 Knockout A-549 Cell Line | EDJ-KQ63815 | Human | 10170 | Details Get a Quote |
| DHRS9 Knockout HCT 116 Cell Line | EDJ-KQ72276 | Human | 10170 | Details Get a Quote |
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