ITGB3BP
Integrin Subunit Beta 3 Binding Protein
Gene Information Card
| Symbol | ITGB3BP |
|---|---|
| Full Name | Integrin Subunit Beta 3 Binding Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 1p31.1 |
| NCBI Gene ID | 23421 ncbi.nlm.nih.gov/gene/23421 |
| Ensembl ID | ENSG00000142856 |
| UniProt ID | Q9Y3M8 |
| OMIM ID | 605440 |
| HGNC ID | 6154 |
| Aliases | CENP-R, HSU37139, ITGB3BP1 |
Description
ITGB3BP (integrin subunit beta 3 binding protein) encodes a protein that binds to the cytoplasmic domain of integrin beta 3. This protein is involved in cell adhesion, signaling, and may play a role in platelet aggregation. It is also known as CENP-R, a centromere protein required for proper kinetochore function and chromosome segregation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bleeding disorder, platelet-type, 16 | Mutations in ITGB3BP disrupt integrin beta 3 binding, impairing platelet aggregation and hemostasis. | ClinVar, OMIM |
| Thrombocytopenia | Loss-of-function variants lead to reduced platelet count and function. | ClinVar |
| Cancer (various) | Altered expression may affect integrin-mediated signaling and metastasis. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Lung | 6.1 | Low |
| Testis | 4.7 | Low |
| Whole blood | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Moderate expression |
| K562 | 22.1 | High expression |
| HeLa | 9.8 | Low expression |
| MCF7 | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.427C>T (p.Arg143*) | Nonsense | Rare | Loss of function; associated with bleeding disorder |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; likely pathogenic |
| c.632G>A (p.Arg211Gln) | Missense | 0.001% | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss variants lead to truncated or absent protein, impairing integrin binding and platelet function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • integrin binding (GO:0005178) | • protein binding (GO:0005515) |
| • chromosome (GO:0000775) | • chromosome segregation (GO:0007059) |
| • cell adhesion mediated by integrin (GO:0033627) |
Pathways
• Integrin signaling pathway (Reactome: R-HSA-354192)
• Platelet activation
• signaling and aggregation (Reactome: R-HSA-76002)
Protein Summary
ITGB3BP encodes a 199-amino acid protein that localizes to the cytoplasm and centromere. It directly binds the cytoplasmic tail of integrin beta 3 (ITGB3), modulating cell adhesion and outside-in signaling. As CENP-R, it is essential for kinetochore assembly and mitotic progression. The protein is widely expressed, with highest levels in bone marrow and hematopoietic cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITGB3BP Knockout HEK293 Cell Line | EDJ-KQ51104 | Human | 23421 | Details Get a Quote |
| ITGB3BP Knockout HeLa Cell Line | EDJ-KQ55733 | Human | 23421 | Details Get a Quote |
| ITGB3BP Knockout A-549 Cell Line | EDJ-KQ64232 | Human | 23421 | Details Get a Quote |
| ITGB3BP Knockout HCT 116 Cell Line | EDJ-KQ72677 | Human | 23421 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
