DSPP Gene - Dentin Sialophosphoprotein
Key Gene in Dentinogenesis and Tooth Development
Gene Information Card
| Symbol | DSPP |
|---|---|
| Full Name | Dentin Sialophosphoprotein |
| Gene Type | Protein coding |
| Chromosomal Location | 4q22.1 |
| NCBI Gene ID | 1834 ncbi.nlm.nih.gov/gene/1834 |
| Ensembl ID | ENSG00000152591 |
| UniProt ID | Q9NZW4 |
| OMIM ID | 125485 |
| HGNC ID | 3053 |
| Aliases | DMP3, DGI1, DFNA39, DSP, DTDP2 |
Description
The DSPP gene encodes dentin sialophosphoprotein, a precursor protein that is cleaved into dentin sialoprotein (DSP) and dentin phosphoprotein (DPP). These proteins are essential for dentin mineralization and tooth development. Mutations in DSPP are associated with dentinogenesis imperfecta type 1 (DGI1) and dentin dysplasia type 2 (DTDP2), as well as hearing loss (DFNA39).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dentinogenesis Imperfecta Type 1 (DGI1) | Mutations disrupt dentin mineralization, leading to opalescent teeth and enamel loss. | ClinVar, OMIM |
| Dentin Dysplasia Type 2 (DTDP2) | Altered DSPP processing causes abnormal dentin structure and pulp obliteration. | ClinVar, OMIM |
| Hearing Loss (DFNA39) | DSPP expression in inner ear; mutations affect cochlear function. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Odontoblasts | High | Tissue-specific |
| Salivary Gland | Low | Detected |
| Inner Ear | Low | Detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HDPC (Human Dental Pulp Cells) | High | Major expression site |
| MCF7 (Breast Cancer) | Not detected | - |
| HEK293 (Embryonic Kidney) | Not detected | - |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.52G>T (p.Gly18Cys) | Missense | Rare | Dominant negative effect on dentin mineralization |
| c.133C>T (p.Arg45X) | Nonsense | Rare | Loss of function, associated with DGI1 |
| c.3638_3639delAG | Frameshift | Rare | Truncated protein, causes DTDP2 |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated DSPP protein, impairing dentin formation.
Gain of Function (GOF)
Not reported for DSPP.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly18Cys) interfere with wild-type DSPP processing, causing dominant dentinogenesis imperfecta.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • integrin binding (GO:0005178) |
| • bone mineralization (GO:0030282) | • odontogenesis of dentin-containing tooth (GO:0042475) |
Pathways
• Dentinogenesis
• Extracellular matrix organization
Protein Summary
Dentin sialophosphoprotein (DSPP) is a 1301-amino acid precursor protein predominantly expressed in odontoblasts. It is proteolytically cleaved into dentin sialoprotein (DSP) and dentin phosphoprotein (DPP). DSP is involved in initiating dentin mineralization, while DPP regulates hydroxyapatite crystal growth. Mutations in DSPP lead to defective dentin formation, resulting in tooth discoloration, enamel loss, and hearing impairment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DSPP Knockout HEK293 Cell Line | EDJ-KQ4481 | Human | 1834 | Details Get a Quote |
| DSPP Knockout HeLa Cell Line | EDJ-KQ53126 | Human | 1834 | Details Get a Quote |
| DSPP Knockout A-549 Cell Line | EDJ-KQ61598 | Human | 1834 | Details Get a Quote |
| DSPP Knockout HCT 116 Cell Line | EDJ-KQ70088 | Human | 1834 | Details Get a Quote |
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