SRI Gene - Sorcin
Comprehensive genomic and proteomic information for SRI (sorcin), a calcium-binding protein involved in calcium homeostasis and associated with various cancers and cardiac conditions.
Gene Information Card
| Symbol | SRI |
|---|---|
| Full Name | sorcin |
| Gene Type | protein coding |
| Chromosomal Location | 7q21.12 |
| NCBI Gene ID | 6717 ncbi.nlm.nih.gov/gene/6717 |
| Ensembl ID | ENSG00000175130 |
| UniProt ID | P30626 |
| OMIM ID | 182450 |
| HGNC ID | 11286 |
| Aliases | CP-22, V19, SOR |
Description
The SRI gene encodes sorcin, a 22 kDa calcium-binding protein belonging to the penta-EF-hand protein family. Sorcin plays a critical role in calcium homeostasis by modulating the activity of calcium channels (e.g., ryanodine receptors) and transporters. It is widely expressed and involved in cell cycle regulation, apoptosis, and multidrug resistance in cancer. Mutations and altered expression of SRI have been linked to cardiac arrhythmias, tumor progression, and chemoresistance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiac Arrhythmia (e.g., Catecholaminergic Polymorphic Ventricular Tachycardia) | Sorcin modulates ryanodine receptor 2 (RyR2) activity; dysregulation leads to aberrant calcium release and arrhythmogenesis. | ClinVar, OMIM |
| Breast Cancer | Overexpression of sorcin enhances cell proliferation and metastasis via calcium signaling and EMT pathways. | COSMIC, NCBI |
| Colorectal Cancer | Sorcin upregulation correlates with poor prognosis and chemoresistance (e.g., to doxorubicin). | COSMIC, PubMed |
| Multidrug Resistance in Cancer | Sorcin binds to and inhibits calcium-dependent apoptosis, promoting survival of drug-resistant cells. | UniProt, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Medium |
| Lung | 7.4 | Medium |
| Breast | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 11.8 | Medium expression |
| MCF7 | 9.5 | Medium expression |
| HepG2 | 7.1 | Low expression |
| A549 | 8.9 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | <0.01% | Alters calcium-binding affinity; associated with cardiac arrhythmia. |
| c.256C>T (p.Pro86Ser) | Missense | <0.01% | Potential impact on protein stability; reported in cancer samples. |
| c.389A>G (p.Asn130Ser) | Missense | <0.01% | Unknown significance; observed in COSMIC. |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce calcium-binding affinity or disrupt interaction with RyR2, leading to impaired calcium homeostasis.
Gain of Function (GOF)
Overexpression or gain-of-function mutations that enhance anti-apoptotic signaling, contributing to chemoresistance.
Dominant Negative (DN)
Not well characterized; some missense variants may interfere with wild-type sorcin function in calcium channel regulation.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Cardiac muscle contraction (KEGG: hsa04260)
• Apoptosis (KEGG: hsa04210)
Protein Summary
Sorcin is a 198-amino-acid protein with five EF-hand domains, enabling calcium-dependent conformational changes. It localizes to the cytoplasm and membrane, where it interacts with ryanodine receptors (RyR2) and L-type calcium channels to regulate calcium flux. In cancer, sorcin overexpression inhibits apoptosis and promotes multidrug resistance. Post-translational modifications include phosphorylation, which modulates its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SRI Knockout HEK293 Cell Line | EDJ-KQ5838 | Human | 6717 | Details Get a Quote |
| SRI Knockout HeLa Cell Line | EDJ-KQ28032 | Human | 6717 | Details Get a Quote |
| SRI Knockout A-549 Cell Line | EDJ-KQ29289 | Human | 6717 | Details Get a Quote |
| SRI Knockout HCT 116 Cell Line | EDJ-KQ29290 | Human | 6717 | Details Get a Quote |
