GCA (Grancalcin)
A calcium-binding protein involved in neutrophil granule fusion and immune response
Gene Information Card
| Symbol | GCA |
|---|---|
| Full Name | Grancalcin |
| Gene Type | Protein coding |
| Chromosomal Location | 2q24.2 |
| NCBI Gene ID | 25801 ncbi.nlm.nih.gov/gene/25801 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | P28676 |
| OMIM ID | 607030 |
| HGNC ID | 4178 |
| Aliases | GCL, EF-hand calcium-binding protein |
Description
The GCA gene encodes grancalcin, a calcium-binding protein belonging to the penta-EF-hand family. Grancalcin is predominantly expressed in neutrophils and plays a role in granule fusion and degranulation during the immune response. It interacts with other proteins such as sorcin and annexins to regulate calcium-dependent membrane trafficking.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neutrophil dysfunction | Impaired granule fusion due to altered calcium signaling | PMID: 10623587 |
| Inflammatory bowel disease | Potential dysregulation of neutrophil degranulation | PMID: 21559391 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Whole blood | 8.2 | Medium |
| Spleen | 6.1 | Low |
| Lung | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HL-60 (promyeloblast) | 15.3 | High expression, neutrophil-like differentiation |
| K-562 (leukemia) | 2.1 | Low expression |
| HeLa (cervical) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.236A>G (p.Asn79Ser) | Missense | <0.01% | Unknown functional impact |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Potential loss of calcium binding |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in EF-hand domains may impair calcium binding and granule fusion.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • cytoplasm (GO:0005737) |
| • calcium-dependent protein binding (GO:0048306) | • secretory granule (GO:0030141) |
Pathways
• Neutrophil degranulation (Reactome: R-HSA-6798695)
• Calcium signaling pathway (KEGG: hsa04020)
Protein Summary
Grancalcin is a 24 kDa calcium-binding protein with five EF-hand motifs. It is highly expressed in neutrophils and localizes to the cytoplasm and secretory granules. Upon calcium binding, grancalcin undergoes conformational changes that facilitate interactions with membrane-associated proteins, promoting granule fusion and exocytosis during immune responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GCAT Knockout HEK293 Cell Line | EDJ-KQ8020 | Human | 23464 | Details Get a Quote |
| GCA Knockout HEK293 Cell Line | EDJ-KQ8236 | Human | 25801 | Details Get a Quote |
| GCA Knockout A-549 Cell Line | EDJ-KQ34144 | Human | 25801 | Details Get a Quote |
| GCA Knockout HCT 116 Cell Line | EDJ-KQ34145 | Human | 25801 | Details Get a Quote |
| GCA Knockout HeLa Cell Line | EDJ-KQ34146 | Human | 25801 | Details Get a Quote |
| GCAT Knockout A-549 Cell Line | EDJ-KQ33791 | Human | 23464 | Details Get a Quote |
| GCAT Knockout HCT 116 Cell Line | EDJ-KQ33792 | Human | 23464 | Details Get a Quote |
| GCAT Knockout HeLa Cell Line | EDJ-KQ33793 | Human | 23464 | Details Get a Quote |
| GCaMP6f Overexpression HeLa Stable Cell Line | EDC90022 | Human | / | Details Get a Quote |
