CABYR (Calcium-Binding Tyrosine Phosphorylation-Regulated Protein)
A gene encoding a testis-specific calcium-binding protein involved in sperm capacitation and motility, with potential roles in cancer and male infertility.
Gene Information Card
| Symbol | CABYR |
|---|---|
| Full Name | Calcium-Binding Tyrosine Phosphorylation-Regulated Protein |
| Gene Type | Protein-coding |
| Chromosomal Location | 18q11.2 |
| NCBI Gene ID | 26256 ncbi.nlm.nih.gov/gene/26256 |
| Ensembl ID | ENSG00000141480 |
| UniProt ID | O75952 |
| OMIM ID | 612800 |
| HGNC ID | 1383 |
| Aliases | CABYR-a, CABYR-b, FSP-2, CT79, MGC119834 |
Description
CABYR (Calcium-Binding Tyrosine Phosphorylation-Regulated Protein) is a protein-coding gene located on chromosome 18q11.2. It encodes a testis-specific calcium-binding protein that undergoes tyrosine phosphorylation during sperm capacitation, playing a critical role in sperm motility and fertilization. The gene produces multiple isoforms via alternative splicing. CABYR is also implicated in certain cancers, where its expression may be dysregulated.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male Infertility (sperm motility defects) | Altered tyrosine phosphorylation and calcium binding impair capacitation | PMID: 11792835 |
| Lung Cancer | Overexpression in non-small cell lung cancer tissues | PMID: 19244119 |
| Colorectal Cancer | Upregulation associated with poor prognosis | PMID: 23467409 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.5 | High |
| Fallopian Tube | 1.2 | Low |
| Prostate | 0.8 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NCI-H1299 (lung cancer) | 12.3 | Moderate expression |
| A549 (lung cancer) | 8.7 | Moderate expression |
| HeLa (cervical cancer) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | <0.01% | Unknown functional effect |
| c.412C>T (p.Arg138Trp) | Missense | <0.01% | Unknown functional effect |
| c.523_524insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.523_524insA) are predicted to cause premature truncation and loss of calcium-binding domains.
Gain of Function (GOF)
No gain-of-function mutations reported in CABYR.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • cytoplasm (GO:0005737) |
| • cilium (GO:0005929) | • single fertilization (GO:0007338) |
| • sperm flagellum (GO:0036126) | • sperm capacitation (GO:0048240) |
Pathways
• Sperm Capacitation (Reactome: R-HSA-1187000)
• Calcium Signaling Pathway (KEGG: hsa04020)
Protein Summary
The CABYR protein is a calcium-binding protein predominantly expressed in the testis, specifically in the sperm flagellum. It contains EF-hand calcium-binding domains and is tyrosine-phosphorylated during sperm capacitation, a process essential for acquiring fertilizing ability. The protein localizes to the fibrous sheath of the sperm tail and interacts with other capacitation-associated proteins. Alternative splicing generates multiple isoforms with varying calcium-binding capacities. Beyond reproduction, CABYR is aberrantly expressed in several cancers, suggesting a potential role in tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CABYR Knockout HEK293 Cell Line | EDJ-KQ8486 | Human | 26256 | Details Get a Quote |
| CABYR Knockout A-549 Cell Line | EDJ-KQ34599 | Human | 26256 | Details Get a Quote |
| CABYR Knockout HeLa Cell Line | EDJ-KQ34600 | Human | 26256 | Details Get a Quote |
| CABYR Knockout HCT 116 Cell Line | EDJ-KQ72854 | Human | 26256 | Details Get a Quote |
