InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MARVELD2

Summary

InnateDB Protein

IDBP-26096.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MARVELD2

Protein Name

MARVEL domain containing 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000323264

InnateDB Gene

IDBG-26092 (MARVELD2)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:17186462}.

Subcellular Localization

Cell membrane; Multi-pass membrane protein. Cell junction, tight junction {ECO:0000250}. Note=Found at tricellular contacts. {ECO:0000250}.

Disease Associations

Deafness, autosomal recessive, 49 (DFNB49) [MIM:610153]: 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. {ECO:0000269PubMed:17186462}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0007605	sensory perception of sound
GO:0045216	cell-cell junction organization
GO:0061028	establishment of endothelial barrier
GO:0070830	tight junction assembly

Cellular Component

GO:0005737	cytoplasm
GO:0005923	tight junction
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016323	basolateral plasma membrane
GO:0016324	apical plasma membrane
GO:0031410	cytoplasmic vesicle
GO:0033010	paranodal junction
GO:0043220	Schmidt-Lanterman incisure