MARVELD2
MARVEL Domain Containing 2
Gene Information Card
| Symbol | MARVELD2 |
|---|---|
| Full Name | MARVEL domain containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q13.2 |
| NCBI Gene ID | 153562 ncbi.nlm.nih.gov/gene/153562 |
| Ensembl ID | ENSG00000152939 |
| UniProt ID | Q8N4S9 |
| OMIM ID | 610572 |
| HGNC ID | 26486 |
| Aliases | DFNB49, tricellulin, MARVD2 |
Description
MARVELD2 encodes tricellulin, a tight junction protein essential for the barrier function of epithelial and endothelial cells, particularly in the cochlea. Mutations in this gene cause autosomal recessive nonsyndromic hearing loss DFNB49.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss DFNB49 | Loss-of-function mutations disrupt tricellulin localization at tricellular tight junctions, impairing cochlear barrier integrity | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea | — | High |
| Kidney | — | High |
| Liver | — | Medium |
| Lung | — | Medium |
| Small intestine | — | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | — | Moderate |
| Caco-2 | — | High |
| MDCK | — | High |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1331+1G>A | Splice donor | Rare | Exon skipping, loss of tricellulin function |
| c.1483G>T (p.Gly495Cys) | Missense | Rare | Impaired tricellulin localization |
| c.1769T>C (p.Leu590Pro) | Missense | Rare | Disrupted tight junction assembly |
Mutation functional classification
Loss of Function (LOF)
Most DFNB49-associated mutations are loss-of-function, leading to tricellulin deficiency and cochlear barrier defects.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • tight junction | • bicellular tight junction |
| • tricellular tight junction | • protein binding |
| • identical protein binding |
Pathways
• Tight junction (KEGG hsa04530)
• Cell junction organization
Protein Summary
Tricellulin is a 558-amino acid transmembrane protein with four MARVEL domains, localized at tricellular tight junctions. It interacts with occludin and claudins to maintain paracellular barrier function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MARVELD2 Knockout HEK293 Cell Line | EDJ-KQ11522 | Human | 153562 | Details Get a Quote |
| MARVELD2 Knockout A-549 Cell Line | EDJ-KQ38505 | Human | 153562 | Details Get a Quote |
| MARVELD2 Knockout HCT 116 Cell Line | EDJ-KQ39838 | Human | 153562 | Details Get a Quote |
| MARVELD2 Knockout HeLa Cell Line | EDJ-KQ39839 | Human | 153562 | Details Get a Quote |
