MARVELD2 Gene Summary [Human]
The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Details
| Type | Protein Coding |
| Official Symbol | MARVELD2 |
| Official Name | MARVEL domain containing 2 [Source:HGNC Symbol;Acc:HGNC:26401] |
| Ensembl ID | ENSG00000152939 |
| Bio databases IDs | |
| Aliases | MARVEL domain containing 2, tricellulin |
| Synonyms | DFNB49, MARVD2, MARVEL domain containing 2, MARVEL (membrane-associating) domain containing 2, MRVLDC2, Tric, Trica, Tricb, Tricc |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MARVELD2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Membrane-associating domain
- protein binding
- Occludin homology domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive deafness type 49
- preeclampsia
- anaplastic thyroid carcinoma
- anaplastic thyroid cancer
- epithelial thyroid cancer
- hearing loss
- familial nonsyndromic hearing impairment
- absent pinna reflex
- autosomal recessive deafness
- papillary thyroid carcinoma
role in cell
- organization
- degeneration
- assembly
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cell junction
- Cytoplasm
- intercellular junctions
- apical membrane
- basolateral membrane
- paranodal junctions
- Schmidt-Lanterman incisures
- cytoplasmic vesicles
- tight junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MARVELD2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sound
- tight junction assembly
- establishment of endothelial barrier
- cell-cell junction organization
Cellular Component
Where in the cell the gene product is active
- occluding junction
- tight junction
- cytoplasm
- paranodal junction
- Schmidt-Lanterman incisure
- cytoplasmic vesicle
- cell junction
- basolateral plasma membrane
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding