HRC (Histidine Rich Calcium Binding Protein) Gene
A comprehensive overview of the HRC gene, its function, expression, and associated diseases.
Gene Information Card
| Symbol | HRC |
|---|---|
| Full Name | Histidine Rich Calcium Binding Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 3270 ncbi.nlm.nih.gov/gene/3270 |
| Ensembl ID | ENSG00000130595 |
| UniProt ID | P23327 |
| OMIM ID | 142705 |
| HGNC ID | 5170 |
| Aliases | HCP, HRGP |
Description
The HRC gene encodes the histidine-rich calcium-binding protein, a low-affinity, high-capacity calcium-binding protein localized to the lumen of the sarcoplasmic reticulum in cardiac and skeletal muscle. It plays a role in regulating calcium homeostasis by modulating the activity of the sarcoplasmic reticulum calcium ATPase (SERCA) and the ryanodine receptor (RyR).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated Cardiomyopathy (DCM) | Altered calcium handling due to HRC mutations may impair cardiac contractility. | ClinVar, OMIM |
| Hypertrophic Cardiomyopathy (HCM) | Dysregulation of calcium cycling in cardiomyocytes linked to HRC variants. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 25.6 | Medium |
| Skeletal Muscle | 18.3 | Medium |
| Esophagus | 6.2 | Low |
| Adipose Tissue | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 30.2 | High expression in differentiated cardiac cells |
| Skeletal Muscle Myoblasts (HSMM) | 22.5 | Moderate expression |
| HeLa | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.119G>A (p.Arg40His) | Missense | Rare | Altered calcium binding affinity; associated with DCM |
| c.337C>T (p.Arg113Trp) | Missense | Rare | Impaired SERCA interaction; linked to HCM |
| c.454_456del (p.Glu152del) | Deletion | Very rare | Loss of function; reduced calcium storage capacity |
Mutation functional classification
Loss of Function (LOF)
Deletion variants (e.g., p.Glu152del) reduce calcium buffering capacity in the sarcoplasmic reticulum.
Gain of Function (GOF)
Not reported for HRC.
Dominant Negative (DN)
Missense variants (e.g., p.Arg40His) may interfere with wild-type HRC function in calcium binding.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • sarcoplasmic reticulum lumen (GO:0033017) |
| • release of sequestered calcium ion into cytosol (GO:0051209) | • heart contraction (GO:0060047) |
Pathways
• Calcium signaling pathway (Reactome: R-HSA-397014)
• Cardiac muscle contraction (KEGG: hsa04260)
Protein Summary
HRC is a 699-amino acid protein with a histidine-rich region that binds calcium with low affinity but high capacity. It resides in the sarcoplasmic reticulum lumen and interacts with SERCA2a and triadin, modulating calcium uptake and release. Its expression is highest in cardiac and skeletal muscle, where it is critical for maintaining calcium homeostasis during excitation-contraction coupling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HRC Knockout HEK293 Cell Line | EDJ-KQ1564 | Human | 3270 | Details Get a Quote |
| CTHRC1 Knockout HEK293 Cell Line | EDJ-KQ2649 | Human | 115908 | Details Get a Quote |
| HRCT1 Knockout HEK293 Cell Line | EDJ-KQ13776 | Human | 646962 | Details Get a Quote |
| CTHRC1 Knockout A-549 Cell Line | EDJ-KQ23416 | Human | 115908 | Details Get a Quote |
| CTHRC1 Knockout HCT 116 Cell Line | EDJ-KQ23417 | Human | 115908 | Details Get a Quote |
| HRCT1 Knockout HeLa Cell Line | EDJ-KQ42299 | Human | 646962 | Details Get a Quote |
| HRC Knockout HeLa Cell Line | EDJ-KQ53570 | Human | 3270 | Details Get a Quote |
| CTHRC1 Knockout HeLa Cell Line | EDJ-KQ57965 | Human | 115908 | Details Get a Quote |
| HRC Knockout A-549 Cell Line | EDJ-KQ62037 | Human | 3270 | Details Get a Quote |
| HRCT1 Knockout A-549 Cell Line | EDJ-KQ69088 | Human | 646962 | Details Get a Quote |
| HRC Knockout HCT 116 Cell Line | EDJ-KQ70518 | Human | 3270 | Details Get a Quote |
| HRCT1 Knockout HCT 116 Cell Line | EDJ-KQ77442 | Human | 646962 | Details Get a Quote |
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