MARVELD3 Gene
MARVEL Domain Containing 3
Gene Information Card
| Symbol | MARVELD3 |
|---|---|
| Full Name | MARVEL domain containing 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.2 |
| NCBI Gene ID | 57162 ncbi.nlm.nih.gov/gene/57162 |
| Ensembl ID | ENSG00000119977 |
| UniProt ID | Q8N3X1 |
| OMIM ID | 617539 |
| HGNC ID | 28985 |
| Aliases | MARVD3, MARVELD3, FLJ12529 |
Description
MARVELD3 encodes a member of the MARVEL (MAL and related proteins for vesicle trafficking and membrane link) domain-containing protein family. The protein localizes to tight junctions and is involved in the regulation of paracellular permeability and cell polarity. It is expressed in epithelial and endothelial cells and has been implicated in cancer progression and barrier function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered expression may affect tight junction integrity and promote metastasis | COSMIC, literature |
| Breast cancer | Downregulation associated with poor prognosis and epithelial-mesenchymal transition | COSMIC, literature |
| Hepatocellular carcinoma | Reduced expression linked to loss of cell polarity and invasion | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Lung | 9.5 | Low |
| Colon | 8.1 | Low |
| Breast | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.5 | Hepatocellular carcinoma cell line |
| Caco-2 | 11.2 | Colorectal adenocarcinoma cell line |
| MCF7 | 7.8 | Breast cancer cell line |
| A549 | 6.1 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown functional impact |
| c.632A>G (p.Asn211Ser) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • tight junction | • protein binding |
| • plasma membrane | • cell-cell junction |
| • integral component of membrane |
Pathways
• Tight junction (KEGG: hsa04530)
• Cell adhesion molecules (CAMs)
Protein Summary
MARVELD3 is a 176-amino acid protein with four transmembrane domains and a MARVEL domain. It localizes to tight junctions and interacts with other junctional proteins such as occludin and claudins. The protein is thought to regulate paracellular permeability and maintain epithelial barrier function. Altered expression has been observed in several cancers, suggesting a role in tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MARVELD3 Knockout HEK293 Cell Line | EDJ-KQ10079 | Human | 91862 | Details Get a Quote |
| MARVELD3 Knockout HCT 116 Cell Line | EDJ-KQ38440 | Human | 91862 | Details Get a Quote |
| MARVELD3 Knockout HeLa Cell Line | EDJ-KQ57814 | Human | 91862 | Details Get a Quote |
| MARVELD3 Knockout A-549 Cell Line | EDJ-KQ66311 | Human | 91862 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
