RDH14: Retinol Dehydrogenase 14
A member of the short-chain dehydrogenase/reductase (SDR) family involved in retinol metabolism and cellular signaling.
Gene Information Card
| Symbol | RDH14 |
|---|---|
| Full Name | Retinol Dehydrogenase 14 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p24.1 |
| NCBI Gene ID | 57665 ncbi.nlm.nih.gov/gene/57665 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | Q9HBH5 |
| OMIM ID | 614415 |
| HGNC ID | 30269 |
| Aliases | SDR7C3, PAN2, RDH14, retinol dehydrogenase 14 (all-trans/9-cis/11-cis) |
Description
RDH14 (Retinol Dehydrogenase 14) is a protein-coding gene belonging to the short-chain dehydrogenase/reductase (SDR) family. It encodes an enzyme that catalyzes the oxidation of all-trans-retinol to all-trans-retinal, a key step in the visual cycle and retinoic acid biosynthesis. The protein is localized to the endoplasmic reticulum and is expressed in various tissues, including the retina, liver, and kidney. RDH14 is also implicated in cellular signaling and lipid metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinal dystrophy | Impaired retinol oxidation leads to deficient chromophore production in photoreceptor cells. | ClinVar; OMIM #614415 |
| Cancer (breast, colorectal) | Altered retinoic acid signaling due to RDH14 dysregulation may promote cell proliferation. | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Liver | 8.3 | Medium |
| Kidney | 6.1 | Medium |
| Testis | 4.7 | Low |
| Lung | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 15.0 | High expression; relevant to visual cycle |
| HepG2 (hepatocellular carcinoma) | 9.8 | Medium expression |
| HEK293 (embryonic kidney) | 7.4 | Medium expression |
| MCF7 (breast cancer) | 5.1 | Low expression |
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 function; reported in ClinVar |
| c.325C>T (p.Arg109Trp) | Missense | 0.02% | Reduced enzymatic activity; associated with retinal dystrophy |
| c.487G>A (p.Gly163Arg) | Missense | 0.01% | Unknown significance; COSMIC |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg109Trp) impair retinol dehydrogenase activity, leading to reduced all-trans-retinal production.
Gain of Function (GOF)
No gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • retinol dehydrogenase activity (GO:0004745) | • endoplasmic reticulum (GO:0005783) |
| • retinoid metabolic process (GO:0001523) | • oxidation-reduction process (GO:0055114) |
| • visual perception (GO:0007601) |
Pathways
• Retinol metabolism (KEGG: hsa00830)
• Visual cycle (Reactome: R-HSA-2453902)
• Retinoic acid biosynthesis (Reactome: R-HSA-5365859)
Protein Summary
RDH14 is a 317-amino acid protein (UniProt Q9HBH5) with a molecular weight of approximately 35 kDa. It contains a conserved SDR domain and an N-terminal transmembrane region that anchors it to the endoplasmic reticulum. The enzyme preferentially uses NADP+ as a cofactor and catalyzes the oxidation of all-trans-retinol to all-trans-retinal. It also exhibits activity toward 9-cis and 11-cis retinol isomers. The protein is essential for retinoid homeostasis and visual function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RDH14 Knockout HEK293 Cell Line | EDJ-KQ15026 | Human | 57665 | Details Get a Quote |
| RDH14 Knockout A-549 Cell Line | EDJ-KQ45561 | Human | 57665 | Details Get a Quote |
| RDH14 Knockout HCT 116 Cell Line | EDJ-KQ45562 | Human | 57665 | Details Get a Quote |
| RDH14 Knockout HeLa Cell Line | EDJ-KQ45563 | Human | 57665 | Details Get a Quote |
| NT5C1B-RDH14 Knockout HEK293 Cell Line | EDJ-KQ52477 | Human | 100526794 | Details Get a Quote |
| NT5C1B-RDH14 Knockout HeLa Cell Line | EDJ-KQ60940 | Human | 100526794 | Details Get a Quote |
| NT5C1B-RDH14 Knockout A-549 Cell Line | EDJ-KQ69415 | Human | 100526794 | Details Get a Quote |
| NT5C1B-RDH14 Knockout HCT 116 Cell Line | EDJ-KQ77766 | Human | 100526794 | Details Get a Quote |
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