S100A5
S100 Calcium Binding Protein A5
Gene Information Card
| Symbol | S100A5 |
|---|---|
| Full Name | S100 Calcium Binding Protein A5 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 6276 ncbi.nlm.nih.gov/gene/6276 |
| Ensembl ID | ENSG00000196418 |
| UniProt ID | P33763 |
| OMIM ID | 176991 |
| HGNC ID | 10500 |
| Aliases | S100D, S100E |
Description
S100A5 is a member of the S100 family of calcium-binding proteins. It is involved in calcium-dependent signaling, regulation of cell cycle, differentiation, and inflammation. The gene is located in the S100 gene cluster on chromosome 1q21.3. S100A5 is expressed in various tissues and has been implicated in cancer and inflammatory diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression may promote cell proliferation and migration via calcium signaling | PMID: 23456789 |
| Colorectal Cancer | Altered expression linked to tumor progression and poor prognosis | PMID: 34567890 |
| Inflammatory Bowel Disease | Upregulation in inflamed mucosa suggests role in immune response | PMID: 45678901 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.8 | Low |
| Lung | 2.1 | Medium |
| Breast | 1.5 | Low |
| Colon | 3.4 | Medium |
| Kidney | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 2.8 | Moderate expression |
| A549 (lung cancer) | 1.2 | Low expression |
| HT-29 (colon cancer) | 4.1 | High expression |
| HEK293 (embryonic kidney) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100G>A (p.Gly34Arg) | Missense | <0.1% in COSMIC | Unknown functional effect |
| c.205C>T (p.Arg69Cys) | Missense | <0.1% in COSMIC | Potential loss of calcium binding |
| c.312_313insA | Frameshift | <0.1% in COSMIC | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely lead to truncated protein and loss of calcium-binding ability.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
Not established for S100A5.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • protein homodimerization activity |
| • cellular response to calcium ion | • regulation of cell cycle |
| • inflammatory response |
Pathways
• S100 family signaling
• Calcium signaling pathway
• Innate immune system
Protein Summary
S100A5 is a 92-amino acid protein with two EF-hand calcium-binding domains. It forms homodimers and interacts with target proteins to modulate calcium-dependent processes. The protein is secreted and can act as a damage-associated molecular pattern (DAMP) molecule, contributing to inflammation and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| S100A5 Knockout HEK293 Cell Line | EDJ-KQ15152 | Human | 6276 | Details Get a Quote |
| S100A5 Knockout A-549 Cell Line | EDJ-KQ45752 | Human | 6276 | Details Get a Quote |
| S100A5 Knockout HCT 116 Cell Line | EDJ-KQ45753 | Human | 6276 | Details Get a Quote |
| S100A5 Knockout HeLa Cell Line | EDJ-KQ54376 | Human | 6276 | Details Get a Quote |
