Aliases for MARVELD2 Gene
External Ids for MARVELD2 Gene
Previous HGNC Symbols for MARVELD2 Gene
Previous GeneCards Identifiers for MARVELD2 Gene
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]
GeneCards Summary for MARVELD2 Gene
MARVELD2 (MARVEL Domain Containing 2) is a Protein Coding gene. Diseases associated with MARVELD2 include Deafness, Autosomal Recessive 49 and Nonsyndromic Deafness. Among its related pathways are Tight junction. An important paralog of this gene is ELL2.
UniProtKB/Swiss-Prot for MARVELD2 Gene
Plays a role in the formation of the epithelial barriers. The separation of the endolymphatic and perilymphatic spaces of the organ of Corti from one another by epithelial barriers is required for normal hearing.