MOSPD3: Motile Sperm Domain-Containing Protein 3
A gene encoding a protein involved in vesicle trafficking and potential roles in spermatogenesis and cancer.
Gene Information Card
| Symbol | MOSPD3 |
|---|---|
| Full Name | Motile Sperm Domain-Containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 83700 ncbi.nlm.nih.gov/gene/83700 |
| Ensembl ID | ENSG00000106384 |
| UniProt ID | Q9H7B2 |
| OMIM ID | 609470 |
| HGNC ID | 16217 |
| Aliases | MGC13170, dJ1033B10.2, MOTSPERM3 |
Description
MOSPD3 encodes a member of the motile sperm domain-containing protein family. The protein localizes to the endoplasmic reticulum and Golgi apparatus and is implicated in vesicle trafficking and spermatogenesis. It may also play a role in cancer cell proliferation and migration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Potential role in sperm motility and maturation; reduced expression linked to infertility | Inferred from functional studies and expression data |
| Breast cancer | Overexpression associated with poor prognosis; may promote cell migration | COSMIC and literature evidence |
| Lung cancer | Altered expression in non-small cell lung cancer; potential oncogenic role | COSMIC and literature evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.3 | Low |
| Breast | 4.1 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.1 | Cervical cancer cell line |
| A549 | 9.8 | Lung cancer cell line |
| MCF7 | 7.5 | Breast cancer cell line |
| HEK293 | 6.2 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96His) | Missense | <0.01% | Unknown; likely benign |
| c.451C>T (p.Arg151Trp) | Missense | <0.01% | Unknown; likely benign |
| c.634_635insA (p.Thr212Asnfs*3) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr212Asnfs*3) are predicted to cause loss of function via nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No dominant-negative mutations reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
| • Golgi apparatus (GO:0005794) | • endoplasmic reticulum (GO:0005783) |
| • vesicle-mediated transport (GO:0016192) | • spermatid development (GO:0007286) |
| • storage vacuole (GO:0030141) |
Pathways
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
• Membrane trafficking (Reactome: R-HSA-199991)
Protein Summary
MOSPD3 is a 244-amino acid protein containing a motile sperm domain (MSD). It is localized to the endoplasmic reticulum and Golgi, suggesting involvement in vesicle trafficking. The protein is highly expressed in testis, consistent with a role in spermatogenesis. Altered expression in cancers indicates potential oncogenic functions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MOSPD3 Knockout HEK293 Cell Line | EDJ-KQ13510 | Human | 64598 | Details Get a Quote |
| MOSPD3 Knockout A-549 Cell Line | EDJ-KQ44343 | Human | 64598 | Details Get a Quote |
| MOSPD3 Knockout HCT 116 Cell Line | EDJ-KQ44344 | Human | 64598 | Details Get a Quote |
| MOSPD3 Knockout HeLa Cell Line | EDJ-KQ44345 | Human | 64598 | Details Get a Quote |
