InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Tmie

Summary

InnateDB Protein

IDBP-202492.6

Last Modified

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

Gene Symbol

Tmie

Protein Name

transmembrane inner ear

Synonyms

5131400L21Rik; Mm.87012; sr;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000060148

InnateDB Gene

IDBG-202490 (Tmie)

Protein Structure

UniProt Annotation

Function

Unknown. The protein may play some role in a cellular membrane location. May reside within an internal membrane compartment and function in pathways such as those involved in protein and/or vesicle trafficking. Alternatively, the mature protein may be localized in the plasma membrane and serve as a site of interaction for other molecules through its highly charged C-terminal domain.

Subcellular Localization

Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.

Disease Associations

Note=Defects in Tmie are the cause of the spinner mutant strain phenotype (sr). This disorder results in hearing loss and vestibular dysfunction due to neuroepithelial defects in the inner ear. It is recognized by behavioral dysfunction, including bidirectional circling and head shaking. Auditory function in spinner mice is found to be reduced, based upon the lack of a startle reflex to sound at any age. Breeding experiments indicated that these defects are inherited in an autosomal recessive fashion. The postnatal defects present in the cochleae of sr/sr mice suggest a requirement for Tmie during maturation of sensory cells, including the normal development or maintenance of stereocilia bundles.

Tissue Specificity

Expressed in brain, kidney, liver, lung and cochlea. {ECO:0000269PubMed:12140191}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession

GO Term

Biological Process