MTDH (Metadherin) Gene
Key regulator of cancer metastasis and signaling pathways
Gene Information Card
| Symbol | MTDH |
|---|---|
| Full Name | Metadherin |
| Gene Type | Protein coding |
| Chromosomal Location | 8q22.1 |
| NCBI Gene ID | 92140 ncbi.nlm.nih.gov/gene/92140 |
| Ensembl ID | ENSG00000147649 |
| UniProt ID | Q86UE4 |
| OMIM ID | 612323 |
| HGNC ID | 29688 |
| Aliases | AEG-1, LYRIC, 3D3, LYRIC1 |
Description
The MTDH (metadherin) gene encodes a multifunctional protein involved in cancer progression, metastasis, and chemoresistance. It is overexpressed in various cancers and regulates signaling pathways including NF-κB, PI3K/Akt, and Wnt/β-catenin. MTDH also plays roles in cell adhesion, angiogenesis, and immune modulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression promotes metastasis via NF-κB and PI3K/Akt pathways | ClinVar, COSMIC |
| Hepatocellular carcinoma | Upregulation enhances cell proliferation and invasion | NCBI Gene, OMIM |
| Prostate cancer | MTDH knockdown reduces tumor growth and metastasis | COSMIC |
| Glioblastoma | High expression correlates with poor prognosis and radioresistance | ClinVar |
| Colorectal cancer | MTDH activates Wnt/β-catenin signaling to drive metastasis | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 15.2 | Medium |
| Breast | 8.7 | Low |
| Brain | 12.1 | Medium |
| Lung | 6.3 | Low |
| Kidney | 10.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.4 | High expression |
| HepG2 (liver cancer) | 22.1 | High expression |
| A549 (lung cancer) | 14.7 | Medium expression |
| U87MG (glioblastoma) | 20.3 | High expression |
| PC3 (prostate cancer) | 16.9 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <1% | Unknown functional impact |
| c.245C>T | Nonsense | <0.5% | Premature truncation, potential loss of function |
| c.1024G>A | Missense | <1% | Reported in COSMIC, uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Rare nonsense mutations may lead to truncated protein with reduced activity.
Gain of Function (GOF)
Amplification and overexpression in cancers suggest oncogenic gain-of-function.
Dominant Negative (DN)
Not well documented for MTDH.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • plasma membrane (GO:0005886) | • apoptotic process (GO:0006915) |
| • signal transduction (GO:0007165) | • integral component of membrane (GO:0016021) |
| • negative regulation of apoptotic process (GO:0043066) | • positive regulation of transcription by RNA polymerase II (GO:0045944) |
Pathways
• NF-κB signaling pathway
• PI3K/Akt signaling pathway
• Wnt/β-catenin signaling pathway
• MAPK signaling pathway
Protein Summary
Metadherin (MTDH) is a 582-amino acid protein localized to the endoplasmic reticulum, cytoplasm, and plasma membrane. It functions as a scaffold that interacts with multiple signaling molecules to promote cell survival, proliferation, and metastasis. MTDH is frequently overexpressed in cancers and is associated with poor prognosis and therapy resistance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTDH Knockout HEK293 Cell Line | EDJ-KQ3240 | Human | 92140 | Details Get a Quote |
| MTDH Knockout A-549 Cell Line | EDJ-KQ24757 | Human | 92140 | Details Get a Quote |
| MTDH Knockout HCT 116 Cell Line | EDJ-KQ24758 | Human | 92140 | Details Get a Quote |
| MTDH Knockout HeLa Cell Line | EDJ-KQ24759 | Human | 92140 | Details Get a Quote |
