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TMIE

Chr 3p21.31

transmembrane inner ear

MANE:
ENST00000643606.3

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Monogenic hearing loss

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hearing loss, autosomal recessive

    0.70
  • deafness

    0.46
  • Sensorineural hearing impairment

    0.44
  • Non-syndromic genetic deafness

    0.38
  • hearing loss disorder

    0.37
  • nonsyndromic genetic hearing loss

    0.37
  • Rare genetic deafness

    0.33
  • Abnormality of the ear

    0.27
  • Hearing impairment

    0.27
  • ear malformation

    0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transmembrane inner ear expressed protein

Auxiliary subunit of the mechanotransducer (MET) non-specific cation channel complex located at the tips of stereocilia of cochlear hair cells and that mediates sensory transduction in the auditory system. The MET complex is composed of two dimeric pore-forming ion-conducting transmembrane TMC (TMC1 or TMC2) subunits, and aided by several auxiliary proteins including LHFPL5, TMIE, CIB2/3 and TOMT, and the tip-link PCDH15. May contribute to the formation of the pore

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.