SPRYD4: SPRY Domain-Containing Protein 4
A gene encoding a protein of unknown function, implicated in cellular signaling and potential roles in cancer.
Gene Information Card
| Symbol | SPRYD4 |
|---|---|
| Full Name | SPRY domain-containing protein 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.2 |
| NCBI Gene ID | 283377 ncbi.nlm.nih.gov/gene/283377 |
| Ensembl ID | ENSG00000174437 |
| UniProt ID | Q5VXU3 |
| OMIM ID | 617290 |
| HGNC ID | 26706 |
| Aliases | MGC26733, FLJ32942 |
Description
SPRYD4 (SPRY domain-containing protein 4) is a protein-coding gene located on chromosome 12q13.2. The encoded protein contains a SPRY domain, which is often involved in protein-protein interactions and signaling pathways. Its precise biological function is not fully characterized, but it may play roles in cell proliferation and differentiation. Expression data suggest broad tissue distribution with highest levels in testis and thyroid.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Potential role in tumorigenesis via altered expression; specific mechanism unknown | COSMIC: somatic mutations in various cancers; limited evidence |
| No specific Mendelian disease association | Not established | OMIM: no disease phenotype linked |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 10.2 | Medium |
| Lung | 6.8 | Low |
| Brain | 4.1 | Low |
| Liver | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.5 | Embryonic kidney; moderate expression |
| HeLa | 6.2 | Cervical cancer; low expression |
| K562 | 3.1 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437G>A (p.Arg146His) | Missense | 0.01% (gnomAD) | Unknown; likely benign |
| c.112C>T (p.Arg38Trp) | Missense | 0.005% (gnomAD) | Unknown; possibly damaging (in silico) |
| c.1A>G (p.Met1?) | Start loss | Rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., c.1A>G) predicted to abolish protein translation.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
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 curated pathways available
Protein Summary
SPRYD4 encodes a 319-amino acid protein with a SPRY domain (residues 87-200). The SPRY domain is known to mediate protein-protein interactions in signaling cascades. The protein is predicted to localize to the cytoplasm and nucleus. Its function remains largely unknown, but it may be involved in cellular signaling and development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPRYD4 Knockout HEK293 Cell Line | EDJ-KQ15497 | Human | 283377 | Details Get a Quote |
| SPRYD4 Knockout A-549 Cell Line | EDJ-KQ47199 | Human | 283377 | Details Get a Quote |
| SPRYD4 Knockout HeLa Cell Line | EDJ-KQ45059 | Human | 283377 | Details Get a Quote |
| SPRYD4 Knockout HCT 116 Cell Line | EDJ-KQ46294 | Human | 283377 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
