RCN3 Gene - Reticulocalbin 3
A calcium-binding protein involved in protein folding and ER homeostasis
Gene Information Card
| Symbol | RCN3 |
|---|---|
| Full Name | Reticulocalbin 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 57333 ncbi.nlm.nih.gov/gene/57333 |
| Ensembl ID | ENSG00000105679 |
| UniProt ID | Q96D15 |
| OMIM ID | 608512 |
| HGNC ID | 21146 |
| Aliases | EFCBP3, RCN3_HUMAN |
Description
RCN3 (reticulocalbin 3) is a protein-coding gene located on chromosome 19q13.33. It encodes a calcium-binding protein localized to the endoplasmic reticulum (ER) lumen, belonging to the CREC family (Cab45, reticulocalbin, ERC-45, calumenin). RCN3 is involved in calcium-dependent protein folding and quality control within the ER, and it plays roles in cellular stress responses and secretion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Idiopathic Pulmonary Fibrosis | Altered RCN3 expression may disrupt ER homeostasis and collagen secretion in lung fibroblasts | PMID: 25982113 |
| Cancer (various) | Dysregulation of RCN3 affects ER stress and apoptosis pathways; overexpression observed in some tumors | COSMIC, TCGA data |
| Alzheimer's Disease | Potential involvement in ER calcium dyshomeostasis and amyloid processing | PMID: 29100055 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 10.2 | Medium |
| Brain | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.3 | High expression |
| HEK293 (embryonic kidney) | 9.8 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374G>A (p.Arg125His) | Missense | <0.01% | Unknown functional impact |
| c.523C>T (p.Arg175Trp) | Missense | <0.01% | Predicted damaging (SIFT, PolyPhen) |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) likely abolish protein translation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • endoplasmic reticulum lumen (GO:0005783) |
| • protein folding in endoplasmic reticulum (GO:0006457) | • endoplasmic reticulum unfolded protein response (GO:0030968) |
Pathways
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• Calcium signaling pathway (KEGG: hsa04020)
Protein Summary
Reticulocalbin 3 (RCN3) is a 45 kDa calcium-binding protein localized to the ER lumen. It contains multiple EF-hand domains that bind calcium with high affinity, facilitating proper protein folding and quality control. RCN3 interacts with chaperones and may modulate ER stress responses. Its expression is enriched in secretory tissues, particularly lung, and dysregulation is linked to fibrosis and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RCN3 Knockout HEK293 Cell Line | EDJ-KQ15021 | Human | 57333 | Details Get a Quote |
| RCN3 Knockout A-549 Cell Line | EDJ-KQ45554 | Human | 57333 | Details Get a Quote |
| RCN3 Knockout HeLa Cell Line | EDJ-KQ45555 | Human | 57333 | Details Get a Quote |
| RCN3 Knockout HCT 116 Cell Line | EDJ-KQ73775 | Human | 57333 | Details Get a Quote |
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