SPRYD7: SPRY Domain-Containing Protein 7
A gene encoding a protein with a SPRY domain, involved in protein-protein interactions and potential roles in cellular signaling.
Gene Information Card
| Symbol | SPRYD7 |
|---|---|
| Full Name | SPRY domain containing 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q14.11 |
| NCBI Gene ID | 57213 ncbi.nlm.nih.gov/gene/57213 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q5W111 |
| OMIM ID | 617449 |
| HGNC ID | 25524 |
| Aliases | C13orf1, FLJ11273, PPP1R131 |
Description
SPRYD7 (SPRY domain containing 7) is a protein-coding gene located on chromosome 13q14.11. The encoded protein contains a SPRY domain, which is involved in protein-protein interactions and may play a role in cellular signaling pathways. SPRYD7 is also known as C13orf1, FLJ11273, and PPP1R131.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations | Not established | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | 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 (GO:0005515) | • cytoplasm (GO:0005737) |
Protein Summary
The SPRYD7 protein contains a SPRY domain, which is a protein interaction module found in various signaling proteins. The exact function of SPRYD7 is not fully characterized, but it may be involved in cellular signaling and protein complex formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPRYD7 Knockout HEK293 Cell Line | EDJ-KQ15499 | Human | 57213 | Details Get a Quote |
| SPRYD7 Knockout A-549 Cell Line | EDJ-KQ46295 | Human | 57213 | Details Get a Quote |
| SPRYD7 Knockout HCT 116 Cell Line | EDJ-KQ46296 | Human | 57213 | Details Get a Quote |
| SPRYD7 Knockout HeLa Cell Line | EDJ-KQ46297 | Human | 57213 | Details Get a Quote |
