MARVELD2 gene

MARVEL domain containing 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Plays a role in the formation of tricellular tight junctions and of epithelial barriers (By similarity). Required for normal hearing via its role in the separation of the endolymphatic and perilymphatic spaces of the organ of Corti in the inner ear, and for normal survival of hair cells in the organ of Corti (PubMed:17186462).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal recessive 49

From UniProt:

Deafness, autosomal recessive, 49 (DFNB49): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [MIM:610153]

Cytogenetic Location: 5q13.2, which is the long (q) arm of chromosome 5 at position 13.2

Molecular Location: base pairs 69,415,112 to 69,444,022 on chromosome 5 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 5q13.2, which is the long (q) arm of chromosome 5 at position 13.2
  • DFNB49
  • MARVD2
  • MRVLDC2
  • Tric