SPRYD3: SPRY Domain-Containing Protein 3
A gene encoding a protein with a SPRY domain, involved in protein-protein interactions and potential roles in cellular signaling and disease.
Gene Information Card
| Symbol | SPRYD3 |
|---|---|
| Full Name | SPRY domain containing 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 283579 ncbi.nlm.nih.gov/gene/283579 |
| Ensembl ID | ENSG00000174483 |
| UniProt ID | Q5VWK5 |
| OMIM ID | 617572 |
| HGNC ID | 26951 |
| Aliases | C12orf32, FLJ32942 |
Description
SPRYD3 (SPRY domain containing 3) is a protein-coding gene located on chromosome 12q13.13. The encoded protein contains a SPRY domain, which is known to mediate protein-protein interactions and is found in various signaling molecules. SPRYD3 is expressed in multiple tissues and may play a role in cellular processes such as signal transduction. Limited functional studies suggest potential involvement in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | SPRYD3 may act as a tumor suppressor or oncogene depending on context; altered expression observed in various cancers. | COSMIC; literature |
| Lung cancer | Overexpression of SPRYD3 has been reported in lung adenocarcinoma, potentially promoting cell proliferation. | PubMed; COSMIC |
| Colorectal cancer | SPRYD3 expression changes noted in colorectal tumors, but mechanism unclear. | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.2 | Medium |
| Prostate | 6.1 | Low |
| Lung | 5.4 | Low |
| Colon | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney; moderate expression |
| A549 | 7.5 | Lung carcinoma; moderate expression |
| HCT116 | 6.0 | Colorectal carcinoma; low expression |
| MCF7 | 4.3 | Breast cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Ile) | Missense | <0.1% | Unknown; rare variant |
| c.205G>A (p.Gly69Ser) | Missense | <0.1% | Unknown; rare variant |
| c.340_341insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.340_341insA) are predicted to cause loss of function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) |
Pathways
• No specific pathways curated in major databases.
Protein Summary
The SPRYD3 protein (UniProt Q5VWK5) is 308 amino acids long and contains a SPRY domain (residues 30-170). The SPRY domain is involved in protein-protein interactions, often in signaling complexes. The protein is localized to the cytoplasm and nucleus. Its exact molecular function remains poorly characterized, but it may participate in cellular signaling and regulation of gene expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPRYD3 Knockout HEK293 Cell Line | EDJ-KQ10262 | Human | 84926 | Details Get a Quote |
| SPRYD3 Knockout HCT 116 Cell Line | EDJ-KQ36240 | Human | 84926 | Details Get a Quote |
| SPRYD3 Knockout A-549 Cell Line | EDJ-KQ37485 | Human | 84926 | Details Get a Quote |
| SPRYD3 Knockout HeLa Cell Line | EDJ-KQ37487 | Human | 84926 | Details Get a Quote |
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