MARVELD2 gene

The MARVELD2 gene (MARVELD2 stands for Membrane-Associating Domain Containing 2) is a protein-coding gene located on chromosome 5q13.2. Two transcript variants encoding different isoforms have been found for this gene.

The protein encoded by this gene (tricellulin) is a membrane protein that is involved in the tight junctions between epithelial cells. The encoded protein contributes to the formation of epithelial barriers, such as in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of autosomal recessive deafness type 49 (Sadeghi Z et al. 2020).

Diseases associated with MARVELD2 include deafness, autosomal recessive 49 and ear malformations. An important paralog of this gene is OCLN.

1. Cai X et al. (2023) Genome-wide identification, evolution and expression analysis of tight junction gene family and the immune roles of claudin5 gene in turbot (Scophthalmus maximus L.). Genes 877:147541.
2. Mariano C et al. (2011) A look at tricellulin and its role in tight junction formation and maintenance. Eur J Cell Biol 90:787-96.
3. Sadeghi Z et al. (2020) A Rare Mutation in the MARVELD2 Gene Can Cause Nonsyndromic Hearing Loss. Int Med Case Rep J 13:291-296
4. Shi J et al. (2018) Bicellular Tight Junctions and Wound Healing. Int J Mol Sci 19:3862.