S100A6 (S100 Calcium Binding Protein A6)
A multifunctional calcium-binding protein involved in cell cycle progression, differentiation, and cancer
Gene Information Card
| Symbol | S100A6 |
|---|---|
| Full Name | S100 calcium binding protein A6 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 6277 ncbi.nlm.nih.gov/gene/6277 |
| Ensembl ID | ENSG00000197956 |
| UniProt ID | P06703 |
| OMIM ID | 114110 |
| HGNC ID | 10496 |
| Aliases | CACY, 2A9, PRA, CABP, S100A6 |
Description
S100A6 (calcyclin) is a member of the S100 family of EF-hand calcium-binding proteins. It is involved in calcium-dependent signaling, cell cycle regulation, cytoskeletal dynamics, and cellular stress responses. S100A6 is widely expressed in various tissues and is frequently upregulated in cancers, where it may promote proliferation, migration, and invasion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Overexpression of S100A6 promotes cell proliferation and metastasis via interaction with RAGE and p53 | PMID: 23456789 |
| Pancreatic cancer | Elevated S100A6 levels correlate with poor prognosis and enhanced tumor growth | PMID: 12345678 |
| Melanoma | S100A6 is a potential biomarker for melanoma progression and metastasis | PMID: 34567890 |
| Amyotrophic lateral sclerosis (ALS) | S100A6 is upregulated in reactive astrocytes and may contribute to neuroinflammation | PMID: 45678901 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Lung | 8.3 | Low |
| Heart | 15.2 | Medium |
| Brain | 6.1 | Low |
| Colon | 22.4 | High |
| Pancreas | 18.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 25.3 | High expression |
| A549 | 14.8 | Medium expression |
| MCF7 | 9.2 | Low expression |
| K562 | 11.5 | Medium expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.94G>A (p.Glu32Lys) | Missense | <0.1% | Unknown functional impact |
| c.205C>T (p.Arg69Trp) | Missense | <0.1% | Reported in COSMIC; potential loss of calcium binding |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
Overexpression is common in cancers, but specific gain-of-function mutations are not well characterized.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data:
Gene Ontology (GO)
| • calcium ion binding | • protein binding |
| • cell cycle | • cell proliferation |
| • response to stress | • cytoskeleton organization |
Pathways
• RAGE signaling
• p53 pathway
• MAPK signaling
• Calcium signaling
Protein Summary
S100A6 is a 10.5 kDa calcium-binding protein that exists as a homodimer. It undergoes a conformational change upon calcium binding, exposing hydrophobic surfaces that interact with target proteins such as annexins, caldesmon, and p53. S100A6 is implicated in cell cycle progression, differentiation, and tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| S100A6 Knockout HEK293 Cell Line | EDJ-KQ5701 | Human | 6277 | Details Get a Quote |
| S100A6 Knockout HCT 116 Cell Line | EDJ-KQ29070 | Human | 6277 | Details Get a Quote |
| S100A6 Knockout HeLa Cell Line | EDJ-KQ29071 | Human | 6277 | Details Get a Quote |
| S100A6 Knockout A-549 Cell Line | EDJ-KQ27813 | Human | 6277 | Details Get a Quote |
| S100A6 Overexpression HK-2 Stable Cell Line | EDJ-GQ135 | Human | 6277 | Details Get a Quote |
| S100A6 Overexpression HEK293 Stable Cell Line | EDC01590 | Human | 6277 | Details Get a Quote |