EMP2 (Epithelial Membrane Protein 2)
EMP2 Gene: Function, Expression, and Clinical Significance
Gene Information Card
| Symbol | EMP2 |
|---|---|
| Full Name | Epithelial Membrane Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.13 |
| NCBI Gene ID | 2013 ncbi.nlm.nih.gov/gene/2013 |
| Ensembl ID | ENSG00000103197 |
| UniProt ID | P54851 |
| OMIM ID | 602334 |
| HGNC ID | 3334 |
| Aliases | XMP, EMP-2 |
Description
EMP2 (Epithelial Membrane Protein 2) encodes a member of the growth arrest-specific 3/peripheral myelin protein 22 (GAS3/PMP22) family of tetraspan membrane proteins. The protein is involved in cell adhesion, migration, and proliferation through interactions with integrins and regulation of membrane trafficking. EMP2 is implicated in tumorigenesis, particularly in endometrial, ovarian, and breast cancers, as well as in endometriosis and immune regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Endometrial cancer | EMP2 overexpression promotes tumor growth and invasion via integrin signaling and FAK activation | PMID: 23541952 |
| Ovarian cancer | EMP2 upregulation correlates with poor prognosis and enhances cell migration through Src/FAK pathway | PMID: 23943784 |
| Breast cancer | EMP2 expression is associated with metastasis and tamoxifen resistance via modulation of estrogen receptor signaling | PMID: 25695676 |
| Endometriosis | EMP2 is highly expressed in ectopic endometrial tissue and contributes to lesion establishment | PMID: 21862674 |
| Glaucoma | EMP2 variants are associated with primary open-angle glaucoma risk | PMID: 31578598 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Endometrium | 12.5 | Medium |
| Ovary | 8.3 | Low |
| Breast | 6.1 | Low |
| Lung | 4.2 | Low |
| Kidney | 3.8 | Low |
| Heart | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEC-1A (endometrial cancer) | 15.2 | High expression |
| OVCAR-3 (ovarian cancer) | 11.7 | Moderate expression |
| MCF-7 (breast cancer) | 9.4 | Moderate expression |
| A549 (lung cancer) | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215C>T (p.Pro72Leu) | Missense | <0.01% | Unknown functional effect |
| c.328G>A (p.Gly110Ser) | Missense | <0.01% | Unknown functional effect |
| c.44_45insG (p.Leu15fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu15fs) are predicted to cause loss of function due to premature truncation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in EMP2.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
| • cell adhesion (GO:0007155) | • cell differentiation (GO:0030154) |
| • positive regulation of cell population proliferation (GO:0008284) | • positive regulation of cell migration (GO:0030335) |
Pathways
• Integrin signaling pathway (Reactome: R-HSA-446388)
• FAK signaling (Reactome: R-HSA-3928662)
• Cell junction organization (Reactome: R-HSA-446728)
Protein Summary
EMP2 is a 167-amino-acid tetraspan membrane protein belonging to the PMP22/GAS3 family. It localizes to the plasma membrane and regulates cell adhesion, migration, and proliferation through interactions with integrins and activation of focal adhesion kinase (FAK) and Src signaling. EMP2 is involved in tumor progression in gynecological cancers and is a potential therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EMP2 Knockout HEK293 Cell Line | EDJ-KQ2529 | Human | 2013 | Details Get a Quote |
| EFEMP2 Knockout HEK293 Cell Line | EDJ-KQ9132 | Human | 30008 | Details Get a Quote |
| NEMP2 Knockout HEK293 Cell Line | EDJ-KQ14411 | Human | 100131211 | Details Get a Quote |
| EMP2 Knockout HCT 116 Cell Line | EDJ-KQ23153 | Human | 2013 | Details Get a Quote |
| EMP2 Knockout HeLa Cell Line | EDJ-KQ23154 | Human | 2013 | Details Get a Quote |
| NEMP2 Knockout A-549 Cell Line | EDJ-KQ44608 | Human | 100131211 | Details Get a Quote |
| NEMP2 Knockout HCT 116 Cell Line | EDJ-KQ44609 | Human | 100131211 | Details Get a Quote |
| NEMP2 Knockout HeLa Cell Line | EDJ-KQ44610 | Human | 100131211 | Details Get a Quote |
| EMP2 Knockout A-549 Cell Line | EDJ-KQ21791 | Human | 2013 | Details Get a Quote |
| EFEMP2 Knockout HCT 116 Cell Line | EDJ-KQ35668 | Human | 30008 | Details Get a Quote |
| EFEMP2 Knockout HeLa Cell Line | EDJ-KQ35669 | Human | 30008 | Details Get a Quote |
| EFEMP2 Knockout A-549 Cell Line | EDJ-KQ64630 | Human | 30008 | Details Get a Quote |
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