SPP2 (Secreted Phosphoprotein 2)
Gene encoding a secreted phosphoprotein involved in bone mineralization and potential roles in cancer and metabolic disorders.
Gene Information Card
| Symbol | SPP2 |
|---|---|
| Full Name | Secreted Phosphoprotein 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 6692 ncbi.nlm.nih.gov/gene/6692 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q13103 |
| OMIM ID | 605713 |
| HGNC ID | 11255 |
| Aliases | SPP-2, SPP24, 24 kDa secreted phosphoprotein |
Description
SPP2 encodes a secreted phosphoprotein that is primarily expressed in bone and liver. It is involved in bone mineralization and remodeling, potentially through modulation of BMP signaling. The protein contains a signal peptide and a conserved domain found in other secreted phosphoproteins. SPP2 has been implicated in osteogenesis, and its dysregulation may contribute to bone diseases and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoporosis | Altered SPP2 expression may affect bone mineral density via BMP pathway modulation | Limited evidence from association studies; not yet confirmed in large cohorts |
| Hepatocellular carcinoma | SPP2 overexpression observed in tumor tissues; may promote cell proliferation | Expression data from cancer genomics studies (e.g., COSMIC) |
| Colorectal cancer | SPP2 mutations and altered expression reported; potential role in tumor progression | Somatic mutation data from COSMIC and TCGA |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 4.1 | Low |
| Lung | 2.0 | Not detected |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| MG-63 | 22.1 | Osteosarcoma cell line |
| A549 | 1.3 | Lung carcinoma cell line |
| MCF7 | 0.8 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.236C>T (p.Pro79Leu) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.418G>A (p.Gly140Arg) | Missense | 0.005% (gnomAD) | Predicted damaging by SIFT |
| c.523_524insA (p.Thr175AsnfsTer2) | Frameshift | 0.001% (gnomAD) | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr175AsnfsTer2) are predicted to cause loss of function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • extracellular space (GO:0005615) |
| • BMP signaling pathway (GO:0030509) | • ossification (GO:0001503) |
| • integrin binding (GO:0005178) |
Pathways
• BMP signaling pathway (Reactome: R-HSA-201451)
• Osteoclast differentiation (KEGG: hsa04380)
Protein Summary
SPP2 is a 24 kDa secreted phosphoprotein that localizes to the extracellular matrix. It contains a signal peptide and a conserved domain similar to other bone-related phosphoproteins. The protein is thought to modulate BMP signaling by binding to BMPs or their receptors, thereby influencing osteoblast differentiation and bone mineralization. SPP2 is expressed in bone and liver, and its dysregulation is associated with osteoporosis and certain cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPP2 Knockout HEK293 Cell Line | EDJ-KQ5835 | Human | 6694 | Details Get a Quote |
| SPP2 Knockout HeLa Cell Line | EDJ-KQ54549 | Human | 6694 | Details Get a Quote |
| SPP2 Knockout A-549 Cell Line | EDJ-KQ63033 | Human | 6694 | Details Get a Quote |
| SPP2 Knockout HCT 116 Cell Line | EDJ-KQ71508 | Human | 6694 | Details Get a Quote |
