Entity Details

Primary name TMIE_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8NEW7
EntryNameTMIE_HUMAN
FullNameTransmembrane inner ear expressed protein
TaxID9606
Evidenceevidence at transcript level
Length156
SequenceStatuscomplete
DateCreated2005-03-29
DateModified2021-06-02

Ontological Relatives

GenesTMIE

GO terms

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GOName
GO:0007605 sensory perception of sound
GO:0016021 integral component of membrane
GO:0042472 inner ear morphogenesis

Subcellular Location

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Subcellular Location
Membrane

Domains

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DomainNameCategoryType
IPR032006 Transmembrane inner ear expressed proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
600971 OMIMDeafness, autosomal recessive, 6 (DFNB6)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. The disease is caused by variants affecting the gene represented in this entry.