SPRED3: Sprouty-Related EVH1 Domain-Containing Protein 3
A negative regulator of the MAPK/ERK signaling pathway involved in cell growth and differentiation.
Gene Information Card
| Symbol | SPRED3 |
|---|---|
| Full Name | Sprouty-Related EVH1 Domain-Containing Protein 3 |
| Gene Type | Protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 399473 ncbi.nlm.nih.gov/gene/399473 |
| Ensembl ID | ENSG00000167553 |
| UniProt ID | Q2MJR0 |
| OMIM ID | 609293 |
| HGNC ID | 20202 |
| Aliases | Spred-3, EVH1 domain-containing sprouty-related protein 3 |
Description
SPRED3 (Sprouty-Related EVH1 Domain-Containing Protein 3) is a member of the Sprouty/SPRED family of proteins that function as negative regulators of the RAS-MAPK signaling pathway. It contains an N-terminal EVH1 domain and a C-terminal Sprouty domain, which mediate interactions with signaling proteins such as RAF1 and inhibit ERK phosphorylation. SPRED3 is involved in cell proliferation, differentiation, and migration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Noonan syndrome-like disorder | Dysregulation of RAS-MAPK signaling due to SPRED3 loss-of-function variants | Limited evidence; case reports in ClinVar |
| Colorectal cancer | Potential tumor suppressor role via MAPK pathway inhibition | COSMIC mutation data; reduced expression in tumors |
| Melanoma | Altered SPRED3 expression may contribute to MAPK hyperactivation | COSMIC mutation data; functional studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 4.2 | Low |
| Heart | 2.8 | Low |
| Lung | 1.5 | Not detected |
| Liver | 0.9 | Not detected |
| Testis | 6.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 3.5 | Embryonic kidney cells |
| HeLa | 2.1 | Cervical cancer cells |
| A549 | 1.8 | Lung cancer cells |
| MCF7 | 4.0 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | <0.1% | Loss of function; truncated protein |
| c.487G>A (p.Gly163Arg) | Missense | <0.1% | Unknown; predicted damaging |
| c.602_603del (p.Glu201Valfs*12) | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons or truncated protein, impairing MAPK inhibition.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in SPRED3.
Dominant Negative (DN)
Not established for SPRED3; dominant-negative effects may occur with certain missense variants but require validation.
View complete mutation data：
Gene Ontology (GO)
| • negative regulation of MAPK cascade | • RAS protein signal transduction |
| • protein binding | • EVH1 domain binding |
| • cytoplasm |
Pathways
• RAS signaling pathway (KEGG: hsa04014)
• MAPK signaling pathway (KEGG: hsa04010)
• Signaling by Receptor Tyrosine Kinases (Reactome: R-HSA-9006925)
Protein Summary
SPRED3 is a 444-amino acid protein with a molecular weight of approximately 49 kDa. It localizes to the cytoplasm and interacts with RAF1 to inhibit MEK and ERK phosphorylation. The EVH1 domain mediates binding to proline-rich motifs, while the Sprouty domain is essential for membrane recruitment and signaling regulation. SPRED3 is expressed predominantly in the brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPRED3 Knockout HEK293 Cell Line | EDJ-KQ15494 | Human | 399473 | Details Get a Quote |
| SPRED3 Knockout A-549 Cell Line | EDJ-KQ45052 | Human | 399473 | Details Get a Quote |
| SPRED3 Knockout HeLa Cell Line | EDJ-KQ60242 | Human | 399473 | Details Get a Quote |
| SPRED3 Knockout HCT 116 Cell Line | EDJ-KQ77070 | Human | 399473 | Details Get a Quote |
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