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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SNED1
sushi, nidogen and EGF like domains 1
Chromosome 2 · 2q37.3
NCBI Gene: 25992Ensembl: ENSG00000162804.16HGNC: HGNC:24696UniProt: Q8TER0
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular matrixNotch bindingcalcium ion bindingcell-matrix adhesionAbnormality of the skeletal systemglaucomaHerniaopen-angle glaucoma
✦AI Summary

SNED1 is an extracellular matrix (ECM) glycoprotein containing sushi, nidogen, and EGF-like domains that plays critical roles in developmental morphogenesis and cancer progression. 1 During development, SNED1 is essential for survival and craniofacial development; homozygous knockout results in early neonatal lethality with craniofacial malformations and nasal cavity occlusion, particularly affecting neural crest cells undergoing epithelial-to-mesenchymal transition. 1 SNED1 mediates cell adhesion through RGD and LDV motifs that bind integrin cell surface receptors, specifically α5β1 and αvβ3, facilitating both neural crest cell migration and cell-ECM interactions. 2 The protein forms microfibrils within the ECM and interacts with fibronectin and potentially 114 other proteins involved in integrin signaling and ECM organization. 3 In cancer, SNED1 promotes breast cancer metastasis, with elevated expression negatively correlating with patient survival in ER(-)/PR(-) tumors. 4 Additionally, SNED1 expression is dysregulated in disease states including diabetic nephropathy, glioblastoma, and childhood obesity-related metabolic changes, suggesting broader pathophysiological relevance. 5 6 7 These findings establish SNED1 as a multifunctional ECM protein bridging developmental biology and cancer biology through integrin-mediated signaling.

Sources cited
1
SNED1 knockout causes early neonatal lethality with craniofacial malformations; essential for development, particularly in neural crest cells
PMID: 33012048
2
SNED1 mediates cell adhesion via RGD motif binding to integrins α5β1 and αvβ3 in neural crest and cancer cells
PMID: 39713860
3
SNED1 is a glycosylated ECM glycoprotein that forms microfibrils, interacts with fibronectin and ~114 other proteins, and participates in integrin signaling
PMID: 33724335
4
SNED1 is a novel metastasis promoter in breast cancer with elevated expression correlating with poor prognosis in ER(-)/PR(-) patients
PMID: 24618895
5
SNED1 is among shared differentially expressed genes identified in diabetic nephropathy across renal tissues and blood
PMID: 37986381
6
SNED1 is a differentially methylated gene with independent prognostic value in glioblastoma
PMID: 31460783
7
SNED1 DNA methylation is associated with body composition and BMI in preschool children
PMID: 29084944
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.57Moderate
glaucomaOpen Targets
0.42Moderate
HerniaOpen Targets
0.37Weak
open-angle glaucomaOpen Targets
0.34Weak
HematuriaOpen Targets
0.33Weak
response to radiationOpen Targets
0.33Weak
lymphatic system diseaseOpen Targets
0.29Weak
vein disorderOpen Targets
0.29Weak
SplenomegalyOpen Targets
0.26Weak
CachexiaOpen Targets
0.24Weak
carpal tunnel syndromeOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.04Suggestive
breast diseaseOpen Targets
0.02Suggestive
endometrial carcinomaOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
medullary thyroid gland carcinomaOpen Targets
0.02Suggestive
KeloidOpen Targets
0.02Suggestive
Pituitary Gland AdenomaOpen Targets
0.01Suggestive
Pallister-Hall syndromeOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
OTOAShared pathway100%EPDR1Shared pathway100%SSTProtein interaction83%MUC4Shared pathway50%RSU1Shared pathway50%STRCShared pathway50%
Tissue Expression6 tissues
Ovary
100%
Lung
47%
Liver
32%
Heart
15%
Brain
10%
Bone Marrow
7%
Gene Interaction Network
Click a node to explore
SNED1OTOAEPDR1SSTMUC4RSU1STRC
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8TER0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.67LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.54 [0.45–0.67]
RankingsWhere SNED1 stands among ~20K protein-coding genes
  • #16,906of 20,598
    Most Researched11
  • #4,894of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedSNED1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Knockout of the gene encoding the extracellular matrix protein SNED1 results in early neonatal lethality and craniofacial malformations.
PMID: 33012048
Dev Dyn · 2021
1.00
2
Computational and experimental characterization of the novel ECM glycoprotein SNED1 and prediction of its interactome.
PMID: 33724335
Biochem J · 2021
0.90
3
The novel ECM protein SNED1 mediates cell adhesion via the RGD-binding integrins α5β1 and αvβ3.
PMID: 39713860
J Cell Sci · 2025
0.80
4
Extracellular matrix signatures of human mammary carcinoma identify novel metastasis promoters.
PMID: 24618895
Elife · 2014
0.70
5
DNA-Methylation and Body Composition in Preschool Children: Epigenome-Wide-Analysis in the European Childhood Obesity Project (CHOP)-Study.
PMID: 29084944
Sci Rep · 2017
0.60