BSPRY Gene - B-Box and SPRY Domain Containing
Comprehensive genomic and proteomic analysis of BSPRY, a gene encoding a protein with B-box and SPRY domains, implicated in cellular signaling and potential disease associations.
Gene Information Card
| Symbol | BSPRY |
|---|---|
| Full Name | B-box and SPRY domain containing |
| Gene Type | Protein coding |
| Chromosomal Location | 9q32 |
| NCBI Gene ID | 54836 ncbi.nlm.nih.gov/gene/54836 |
| Ensembl ID | ENSG00000107147 |
| UniProt ID | Q9H2B4 |
| OMIM ID | 611446 |
| HGNC ID | 24136 |
| Aliases | FLJ10154, MGC138499, MGC138501 |
Description
BSPRY (B-box and SPRY domain containing) is a protein-coding gene located on chromosome 9q32. The encoded protein contains a B-box-type zinc finger domain and a SPRY domain, which are often involved in protein-protein interactions and signaling pathways. BSPRY is expressed in various tissues and may play a role in cellular processes such as differentiation and immune response. Limited functional studies suggest potential involvement in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association confirmed | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.2 | Low |
| Lung | 6.1 | Low |
| Brain | 4.3 | Low |
| Liver | 3.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.0 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 5.2 | Low expression |
| A549 | 4.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • zinc ion binding |
| • cytoplasm |
Protein Summary
The BSPRY protein (UniProt Q9H2B4) is 477 amino acids long and contains a B-box zinc finger domain (residues 48-90) and a SPRY domain (residues 153-310). The B-box domain is typically involved in ubiquitination and protein interactions, while the SPRY domain mediates protein-protein interactions in signaling pathways. The protein is localized in the cytoplasm and may interact with other proteins to modulate cellular functions. No crystal structure is available.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BSPRY Knockout HEK293 Cell Line | EDJ-KQ12572 | Human | 54836 | Details Get a Quote |
| BSPRY Knockout HCT 116 Cell Line | EDJ-KQ41593 | Human | 54836 | Details Get a Quote |
| BSPRY Knockout HeLa Cell Line | EDJ-KQ56482 | Human | 54836 | Details Get a Quote |
| BSPRY Knockout A-549 Cell Line | EDJ-KQ64974 | Human | 54836 | Details Get a Quote |
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