DCSTAMP Gene (Dendritic Cell-Specific Transmembrane Protein)
Key regulator of osteoclast fusion and immune cell communication
Gene Information Card
| Symbol | DCSTAMP |
|---|---|
| Full Name | Dendritic Cell-Specific Transmembrane Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 8q22.1 |
| NCBI Gene ID | 81501 ncbi.nlm.nih.gov/gene/81501 |
| Ensembl ID | ENSG00000164938 |
| UniProt ID | Q9H295 |
| OMIM ID | 605044 |
| HGNC ID | 16106 |
| Aliases | TM7SF4, DC-STAMP, FIND |
Description
DCSTAMP encodes a seven-transmembrane protein predominantly expressed in dendritic cells and osteoclast precursors. It is essential for cell-cell fusion during osteoclastogenesis and plays a role in immune cell communication. The protein acts as a receptor for an unknown ligand, triggering signaling pathways that lead to multinucleation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteopetrosis | Loss of DCSTAMP function impairs osteoclast fusion, leading to defective bone resorption and increased bone density. | PMID: 17086178 |
| Rheumatoid arthritis | Overexpression of DCSTAMP in synovial tissues may promote osteoclast formation and bone erosion. | PMID: 21159633 |
| Giant cell tumor of bone | Aberrant DCSTAMP expression contributes to the formation of multinucleated giant cells. | PMID: 18332113 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 0.8 | Low |
| Lymph node | 1.2 | Low |
| Spleen | 0.6 | Low |
| Peripheral blood mononuclear cells | 2.5 | Medium |
| Osteoclasts | 15.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 0.5 | Basal expression |
| RAW 264.7 (macrophage) | 1.0 | Induced by RANKL |
| Primary osteoclasts | 12.0 | High after differentiation |
| Dendritic cells | 8.5 | Mature dendritic cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Reduced protein expression |
| c.325C>T | Nonsense | <0.01% | Premature truncation, loss of function |
| c.500_501insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing osteoclast fusion.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane | • integral component of membrane |
| • cell-cell fusion | • osteoclast differentiation |
| • positive regulation of cell fusion | • receptor activity |
Pathways
• Osteoclast differentiation (RANKL signaling)
• Cell-cell fusion pathway
Protein Summary
DCSTAMP is a 470-amino acid transmembrane protein with seven membrane-spanning domains. It is localized to the plasma membrane and is critical for the fusion of mononuclear osteoclast precursors into multinucleated osteoclasts. The protein shares homology with the G-protein-coupled receptor family but its ligand remains unknown. DCSTAMP expression is induced by RANKL and is a marker of osteoclast lineage commitment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCSTAMP Knockout HEK293 Cell Line | EDJ-KQ3789 | Human | 81501 | Details Get a Quote |
| DCSTAMP Knockout HeLa Cell Line | EDJ-KQ57391 | Human | 81501 | Details Get a Quote |
| DCSTAMP Knockout A-549 Cell Line | EDJ-KQ65897 | Human | 81501 | Details Get a Quote |
| DCSTAMP Knockout HCT 116 Cell Line | EDJ-KQ74324 | Human | 81501 | Details Get a Quote |
