TMIE
entrez
259236
canonical
uniprot
Q8NEW7
canonical
ensembl
ENSG00000181585
resolver
ensp
ENSP00000494576
resolver
ensp
ENSP00000495111
resolver
enst
ENST00000643606
resolver
enst
ENST00000644830
resolver
genesymbol
TMIE
resolver
hgnc
HGNC:30800
resolver
uniprot
A0A2R8YDZ8
resolver
uniprot
A0AV93
resolver
uniprot
A8K0R0
resolver
uniprot_entry
A0A2R8YDZ8_HUMAN
resolver
uniprot_entry
TMIE_HUMAN
resolver
uniprot_sec
A0AV93
resolver
uniprot_sec
A8K0R0
resolver
amino_acid_sequence
MAGWPGAGPLCVLGGAALGVCLAGVAGQLVEPSTAPPKPKPPPLTKETVVFWDMRLWHVVGIFSLFVLSIIITLCCVFNCRVPRTRKEIEARYLQRKAAKMYTDKLETVPPLNELTEVPGEDKKKKKKKKKDSVDTVAIKVEEDEKNEAKKKKGEK
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 6 (DFNB6) [MIM:600971]: 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:0000269|PubMed:12145746}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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. {ECO:0000250|UniProtKB:Q8K467}.
uniprot
proteins
mass_dalton
17241
uniprot
proteins
pubmed
12145746
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
sequence_length
156
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 58..78; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins