REN (Renin) Gene
Key regulator of blood pressure and electrolyte balance
Gene Information Card
| Symbol | REN |
|---|---|
| Full Name | Renin |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 5972 ncbi.nlm.nih.gov/gene/5972 |
| Ensembl ID | ENSG00000143839 |
| UniProt ID | P00797 |
| OMIM ID | 179820 |
| HGNC ID | 9958 |
| Aliases | Angiotensinogenase, HNFJ2 |
Description
The REN gene encodes renin, an aspartic protease that catalyzes the conversion of angiotensinogen to angiotensin I, the first and rate-limiting step of the renin-angiotensin system (RAS). Renin is primarily produced by juxtaglomerular cells in the kidney and plays a central role in blood pressure regulation, electrolyte homeostasis, and fluid balance. Mutations in REN can lead to disorders such as familial hyperreninemia, renal tubular dysgenesis, and autosomal dominant tubulointerstitial kidney disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal tubular dysgenesis | Loss-of-function mutations in REN impair angiotensinogen cleavage, leading to reduced angiotensin II and abnormal kidney development | PMID: 15987685, OMIM #267430 |
| Familial hyperreninemia | Gain-of-function mutations increase renin activity, causing hypertension and hyperkalemia | PMID: 20884846, OMIM #145750 |
| Autosomal dominant tubulointerstitial kidney disease (ADTKD-REN) | Mutations in REN cause progressive kidney disease due to defective renin processing and ER stress | PMID: 21824920, OMIM #613092 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 124.5 | High |
| Adrenal gland | 2.3 | Low |
| Placenta | 1.1 | Low |
| Liver | 0.2 | Not detected |
| Heart | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.5 | Low expression |
| HK-2 (kidney proximal tubule) | 15.2 | Moderate expression |
| AsPC-1 (pancreatic) | 0.3 | Not detected |
| HUVEC | 0.1 | 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% | Loss of function, associated with renal tubular dysgenesis |
| c.295C>T (p.Arg99Trp) | Missense | 0.02% | Gain of function, linked to hyperreninemia |
| c.1045C>T (p.Arg349*) | Nonsense | <0.01% | Loss of function, causes ADTKD-REN |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish renin enzymatic activity, leading to renal tubular dysgenesis or ADTKD-REN.
Gain of Function (GOF)
Mutations that increase renin activity or secretion, resulting in familial hyperreninemia and hypertension.
Dominant Negative (DN)
Not well characterized for REN; some missense mutations may exert dominant-negative effects via ER retention.
View complete mutation data：
Gene Ontology (GO)
| • aspartic-type endopeptidase activity (GO:0004190) | • angiotensin maturation (GO:0002003) |
| • renin-angiotensin system (GO:0002016) | • extracellular space (GO:0005615) |
| • response to hypoxia (GO:0001666) |
Pathways
• Renin-angiotensin system (KEGG: hsa04614)
• Regulation of blood pressure (Reactome: R-HSA-375281)
Protein Summary
Renin is a 406-amino-acid aspartic protease (UniProt P00797) synthesized as preprorenin, which is processed to active renin. It is stored in secretory granules of juxtaglomerular cells and released in response to low blood pressure, low sodium, or sympathetic stimulation. Renin cleaves angiotensinogen to angiotensin I, which is further converted to angiotensin II by ACE. Angiotensin II is a potent vasoconstrictor and stimulates aldosterone secretion. Renin activity is tightly regulated and is a key target for antihypertensive drugs (e.g., aliskiren).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RENBP Knockout HEK293 Cell Line | EDJ-KQ5649 | Human | 5973 | Details Get a Quote |
| CYREN Knockout HEK293 Cell Line | EDJ-KQ13086 | Human | 78996 | Details Get a Quote |
| REN Knockout HEK293 Cell Line | EDJ-KQ17786 | Human | 5972 | Details Get a Quote |
| CYREN Knockout A-549 Cell Line | EDJ-KQ42368 | Human | 78996 | Details Get a Quote |
| CYREN Knockout HCT 116 Cell Line | EDJ-KQ42369 | Human | 78996 | Details Get a Quote |
| CYREN Knockout HeLa Cell Line | EDJ-KQ42370 | Human | 78996 | Details Get a Quote |
| REN Knockout HeLa Cell Line | EDJ-KQ54309 | Human | 5972 | Details Get a Quote |
| RENBP Knockout HeLa Cell Line | EDJ-KQ54310 | Human | 5973 | Details Get a Quote |
| REN Knockout A-549 Cell Line | EDJ-KQ62803 | Human | 5972 | Details Get a Quote |
| RENBP Knockout A-549 Cell Line | EDJ-KQ62804 | Human | 5973 | Details Get a Quote |
| REN Knockout HCT 116 Cell Line | EDJ-KQ71269 | Human | 5972 | Details Get a Quote |
| RENBP Knockout HCT 116 Cell Line | EDJ-KQ71270 | Human | 5973 | Details Get a Quote |
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