DCST2 (DC-STAMP Domain Containing 2)
A gene encoding a protein with a DC-STAMP domain, involved in cellular fusion and immune regulation.
Gene Information Card
| Symbol | DCST2 |
|---|---|
| Full Name | DC-STAMP Domain Containing 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 127579 ncbi.nlm.nih.gov/gene/127579 |
| Ensembl ID | ENSG00000143157 |
| UniProt ID | Q8N7Z2 |
| OMIM ID | 617037 |
| HGNC ID | 28376 |
| Aliases | FLJ22662, MGC131970 |
Description
DCST2 (DC-STAMP Domain Containing 2) is a protein-coding gene located on chromosome 1q32.1. The encoded protein contains a DC-STAMP domain, which is associated with cellular fusion processes, particularly in osteoclasts and immune cells. DCST2 is involved in multinucleation and may play a role in bone remodeling and immune response. Expression is observed in various tissues, with notable levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteopetrosis (potential) | DCST2 may influence osteoclast fusion; loss-of-function could impair bone resorption. | Inferred from homology to DCST1 and DC-STAMP (PMID: 21258369) |
| Cancer (general) | Altered expression may affect cell fusion in tumor microenvironment. | Limited evidence; expression data from COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Testis | 4.8 | Low |
| Lung | 2.1 | Not detected |
| Liver | 1.5 | Not detected |
| Heart | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 3.5 | Low expression |
| K562 | 2.0 | Low expression |
| HeLa | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown significance |
| c.250G>A (p.Gly84Ser) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • plasma membrane (GO:0005886) |
| • identical protein binding (GO:0042802) | • signal transduction (GO:0007165) |
Pathways
• Not curated in major pathway databases
Protein Summary
The DCST2 protein (UniProt Q8N7Z2) is a 470-amino acid transmembrane protein with a DC-STAMP domain. It is predicted to localize to the plasma membrane and may facilitate cell-cell fusion. Structural analysis suggests it contains a single transmembrane helix. The protein is poorly characterized, with limited functional studies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCST2 Knockout HEK293 Cell Line | EDJ-KQ9061 | Human | 127579 | Details Get a Quote |
| DCST2 Knockout HeLa Cell Line | EDJ-KQ58212 | Human | 127579 | Details Get a Quote |
| DCST2 Knockout A-549 Cell Line | EDJ-KQ66703 | Human | 127579 | Details Get a Quote |
| DCST2 Knockout HCT 116 Cell Line | EDJ-KQ75114 | Human | 127579 | Details Get a Quote |
