SNED1: Sushi, Nidogen and EGF-like Domains 1
Extracellular matrix protein involved in cell adhesion and tumor suppression
Gene Information Card
| Symbol | SNED1 |
|---|---|
| Full Name | Sushi, Nidogen and EGF-like Domains 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q37.3 |
| NCBI Gene ID | 25992 ncbi.nlm.nih.gov/gene/25992 |
| Ensembl ID | ENSG00000163002 |
| UniProt ID | Q8TER0 |
| OMIM ID | 617226 |
| HGNC ID | 24678 |
| Aliases | SST3, C2orf71, dJ283E3.1 |
Description
SNED1 (Sushi, Nidogen and EGF-like Domains 1) encodes an extracellular matrix protein containing sushi (CCP), nidogen, and EGF-like domains. It is involved in cell adhesion, matrix organization, and may function as a tumor suppressor. Expression is enriched in breast tissue and is frequently downregulated in breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Downregulation of SNED1 in tumors; loss of expression correlates with poor prognosis | ClinVar, COSMIC |
| Prostate cancer | Reduced expression observed in metastatic samples | COSMIC |
| Lung cancer | Mutations and copy number alterations reported | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 12.5 | Medium |
| Adipose tissue | 8.3 | Low |
| Skin | 6.1 | Low |
| Lung | 4.2 | Low |
| Prostate | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | High expression |
| MDA-MB-231 (breast cancer) | 2.1 | Low expression |
| A549 (lung cancer) | 5.4 | Moderate expression |
| PC3 (prostate cancer) | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.02% | p.Arg412Cys; likely benign |
| c.567_568del | Frameshift | 0.01% | Loss of function |
| c.890G>A | Nonsense | 0.005% | p.Trp297*; premature stop |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein; loss of tumor suppressor activity.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Not described for SNED1.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • cell adhesion (GO:0007155) |
| • extracellular matrix organization (GO:0030198) | • protein binding (GO:0005515) |
| • extracellular space (GO:0005615) |
Pathways
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Integrin cell surface interactions (Reactome: R-HSA-216083)
Protein Summary
SNED1 is a secreted extracellular matrix protein of 1,047 amino acids. It contains multiple sushi (CCP) domains, a nidogen domain, and EGF-like repeats. It localizes to the extracellular matrix and basement membranes, mediating cell-matrix adhesion. The protein is implicated in tissue development and cancer suppression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNED1 Knockout HEK293 Cell Line | EDJ-KQ7665 | Human | 25992 | Details Get a Quote |
| SNED1 Knockout HCT 116 Cell Line | EDJ-KQ34357 | Human | 25992 | Details Get a Quote |
| SNED1 Knockout HeLa Cell Line | EDJ-KQ55859 | Human | 25992 | Details Get a Quote |
| SNED1 Knockout A-549 Cell Line | EDJ-KQ64351 | Human | 25992 | Details Get a Quote |
