SPON2: Spondin 2 – Extracellular Matrix Protein and Innate Immunity Regulator
Comprehensive genomic and proteomic analysis of SPON2, a gene encoding an extracellular matrix protein involved in cell adhesion, immune response, and tumorigenesis.
Gene Information Card
| Symbol | SPON2 |
|---|---|
| Full Name | spondin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p16.3 |
| NCBI Gene ID | 10417 ncbi.nlm.nih.gov/gene/10417 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q9BUD6 |
| OMIM ID | 605918 |
| HGNC ID | 11253 |
| Aliases | DIL-1, M-SPONDIN, RP11-474I16.1 |
Description
SPON2 (spondin 2) encodes an extracellular matrix protein belonging to the spondin family. It functions in cell adhesion, neuronal outgrowth, and innate immune responses by binding to integrins and activating complement. The protein is secreted and plays roles in development, inflammation, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Overexpression promotes tumor cell adhesion and migration via integrin signaling | PMID: 25944712 |
| Hepatocellular Carcinoma | Upregulation correlates with poor prognosis and immune infiltration | PMID: 31570756 |
| Osteoarthritis | SPON2 expression in synovial fluid may modulate inflammation | PMID: 27535984 |
| Innate Immune Deficiency | SPON2 binds to complement receptor and modulates macrophage activation | PMID: 20037584 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Liver | 8.7 | Low |
| Kidney | 15.2 | Medium |
| Lung | 6.1 | Low |
| Brain | 3.4 | Not detected |
| Testis | 22.5 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | Embryonic kidney cells |
| HepG2 | 9.2 | Hepatocellular carcinoma |
| A549 | 5.6 | Lung adenocarcinoma |
| MCF7 | 2.1 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.236C>T (p.Pro79Leu) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.487G>A (p.Gly163Arg) | Missense | 0.01% (gnomAD) | Predicted damaging (SIFT) |
| c.712_713insA | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants (e.g., c.712_713insA) are predicted to cause loss of protein function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in SPON2.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • cell adhesion (GO:0007155) |
| • protein binding (GO:0005515) | • innate immune response (GO:0045087) |
| • plasma membrane (GO:0005886) |
Pathways
• Integrin signaling pathway
• Complement and coagulation cascades
• Extracellular matrix organization
Protein Summary
Spondin-2 is a secreted extracellular matrix protein of 331 amino acids. It contains a thrombospondin type 1 domain and a von Willebrand factor type C domain. The protein promotes cell adhesion through integrin binding and modulates complement activation. It is expressed in various tissues, with highest levels in testis and heart, and is implicated in cancer progression and immune regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPON2 Knockout HEK293 Cell Line | EDJ-KQ50967 | Human | 10417 | Details Get a Quote |
| SPON2 Knockout HeLa Cell Line | EDJ-KQ55404 | Human | 10417 | Details Get a Quote |
| SPON2 Knockout A-549 Cell Line | EDJ-KQ63884 | Human | 10417 | Details Get a Quote |
| SPON2 Knockout HCT 116 Cell Line | EDJ-KQ72342 | Human | 10417 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
