MOSPD2: Motile Sperm Domain-Containing Protein 2
A gene encoding a protein involved in vesicle trafficking and potential roles in spermatogenesis and cancer.
Gene Information Card
| Symbol | MOSPD2 |
|---|---|
| Full Name | Motile Sperm Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq22.1 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000147133 |
| UniProt ID | Q8N2K0 |
| OMIM ID | 300711 |
| HGNC ID | HGNC:28673 |
| Aliases | MGC12966, dJ1181N3.1 |
Description
MOSPD2 encodes a protein containing a motile sperm domain (MSD), which is involved in intracellular vesicle trafficking and lipid transport. The protein is localized to the endoplasmic reticulum and Golgi apparatus and is thought to play a role in spermatogenesis and ciliary function. MOSPD2 is also implicated in cancer progression through its interaction with the ESCRT machinery.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | MOSPD2 overexpression may promote tumor growth via altered vesicle trafficking and signaling. | COSMIC; literature |
| Male infertility | Disruption of MOSPD2 may impair sperm motility or acrosome formation. | OMIM; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| A549 | 7.8 | Lung cancer cell line |
| HEK293 | 6.5 | Embryonic kidney cell line |
| K562 | 4.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.1% | Unknown functional impact |
| c.205G>A (p.Gly69Arg) | Missense | <0.1% | Reported in COSMIC for colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
No validated loss-of-function mutations reported.
Gain of Function (GOF)
No validated gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • intracellular protein transport (GO:0006886) | • vesicle-mediated transport (GO:0016192) |
| • Golgi apparatus (GO:0005794) | • endoplasmic reticulum (GO:0005783) |
Pathways
• ESCRT pathway
• Vesicle trafficking
Protein Summary
MOSPD2 is a 244-amino acid protein with a single transmembrane domain and a motile sperm domain. It localizes to the ER and Golgi and interacts with ESCRT components to facilitate membrane remodeling and cargo sorting. Its expression is highest in testis, suggesting a role in sperm maturation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MOSPD2 Knockout HEK293 Cell Line | EDJ-KQ1042 | Human | 158747 | Details Get a Quote |
| MOSPD2 Knockout A-549 Cell Line | EDJ-KQ20148 | Human | 158747 | Details Get a Quote |
| MOSPD2 Knockout HCT 116 Cell Line | EDJ-KQ20149 | Human | 158747 | Details Get a Quote |
| MOSPD2 Knockout HeLa Cell Line | EDJ-KQ20150 | Human | 158747 | Details Get a Quote |
