RGN (Regucalcin) Gene
Calcium-binding protein involved in calcium homeostasis and cell signaling
Gene Information Card
| Symbol | RGN |
|---|---|
| Full Name | Regucalcin |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.3 |
| NCBI Gene ID | 9104 ncbi.nlm.nih.gov/gene/9104 |
| Ensembl ID | ENSG00000130988 |
| UniProt ID | Q15493 |
| OMIM ID | 300212 |
| HGNC ID | 9989 |
| Aliases | SMP30, RC, GNL, FLJ31031 |
Description
The RGN gene encodes regucalcin, also known as senescence marker protein-30 (SMP30), a calcium-binding protein that plays a key role in intracellular calcium homeostasis, cell signaling, and protection against oxidative stress. It is widely expressed in various tissues, with highest levels in liver and kidney. Regucalcin modulates the activity of calcium-dependent enzymes and transporters, and its dysregulation has been implicated in aging, cancer, and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Downregulation of RGN leads to increased intracellular calcium and enhanced cell proliferation; loss of tumor suppressor function | PMID: 25642768 (NCBI) |
| Renal cell carcinoma | Reduced RGN expression associated with increased oxidative stress and tumor progression | PMID: 27498914 (NCBI) |
| Aging-related disorders | Decreased RGN expression with age contributes to calcium dyshomeostasis and cellular senescence | PMID: 17984093 (NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 48.2 | High |
| Kidney | 35.7 | High |
| Heart | 12.1 | Medium |
| Brain | 5.3 | Low |
| Lung | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 42.5 | Liver cancer cell line; high expression |
| HEK293 | 18.3 | Embryonic kidney cells; moderate expression |
| A549 | 6.7 | Lung cancer cells; 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 start codon; predicted loss of function |
| c.374C>T (p.Thr125Met) | Missense | 0.02% | Reduced calcium-binding affinity; potential dominant-negative effect |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the start codon or introduce premature stop codons lead to loss of regucalcin protein, impairing calcium homeostasis and increasing oxidative stress.
Gain of Function (GOF)
No gain-of-function mutations reported in RGN.
Dominant Negative (DN)
Missense mutations such as p.Thr125Met may produce a protein that interferes with wild-type regucalcin function, reducing calcium buffering capacity.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) | • metal ion binding (GO:0046872) |
| • oxidation-reduction process (GO:0055114) |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Oxidative stress response (Reactome: R-HSA-3371497)
Protein Summary
Regucalcin is a 33 kDa calcium-binding protein predominantly expressed in liver and kidney. It contains an EF-hand-like calcium-binding domain and acts as a negative regulator of calcium-dependent enzymes such as calmodulin-dependent phosphodiesterase and protein kinase C. By buffering intracellular calcium, regucalcin protects cells from calcium overload and oxidative damage. Its expression declines with age, contributing to cellular senescence and age-related diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NRGN Knockout HEK293 Cell Line | EDJ-KQ5362 | Human | 4900 | Details Get a Quote |
| SRGN Knockout HEK293 Cell Line | EDJ-KQ5526 | Human | 5552 | Details Get a Quote |
| RGN Knockout HEK293 Cell Line | EDJ-KQ5792 | Human | 9104 | Details Get a Quote |
| NRGN Knockout A-549 Cell Line | EDJ-KQ28475 | Human | 4900 | Details Get a Quote |
| NRGN Knockout HCT 116 Cell Line | EDJ-KQ28476 | Human | 4900 | Details Get a Quote |
| NRGN Knockout HeLa Cell Line | EDJ-KQ28477 | Human | 4900 | Details Get a Quote |
| SRGN Knockout A-549 Cell Line | EDJ-KQ28770 | Human | 5552 | Details Get a Quote |
| SRGN Knockout HeLa Cell Line | EDJ-KQ28771 | Human | 5552 | Details Get a Quote |
| RGN Knockout HeLa Cell Line | EDJ-KQ55086 | Human | 9104 | Details Get a Quote |
| RGN Knockout A-549 Cell Line | EDJ-KQ63565 | Human | 9104 | Details Get a Quote |
| SRGN Knockout HCT 116 Cell Line | EDJ-KQ71170 | Human | 5552 | Details Get a Quote |
| RGN Knockout HCT 116 Cell Line | EDJ-KQ72033 | Human | 9104 | Details Get a Quote |
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