TMIE

Protein identityUniProt · HPA

UniProt accession

Q8NEW7

Gene

TMIE

Ensembl

ENSG00000181585

Chromosome

3

Canonical length

156 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

Subcellular location

Vesicles,Cytosol

OverviewNCBI Gene

This gene encodes a transmembrane inner ear protein. Studies in mouse suggest that this gene is required for normal postnatal maturation of sensory hair cells in the cochlea, including correct development of stereocilia bundles. This gene is one of multiple genes responsible for recessive non-syndromic deafness (DFNB), also known as autosomal recessive nonsyndromic hearing loss (ARNSHL), the most common form of congenitally acquired inherited hearing impairment. [provided by RefSeq, Mar 2009]

Canonical amino-acid sequenceUniProt

156 residues, UniProt reviewed canonical sequence.

>Q8NEW7|TMIE
     1  MAGWPGAGPL CVLGGAALGV CLAGVAGQLV EPSTAPPKPK PPPLTKETVV FWDMRLWHVV
    61  GIFSLFVLSI IITLCCVFNC RVPRTRKEIE ARYLQRKAAK MYTDKLETVP PLNELTEVPG
   121  EDKKKKKKKK KDSVDTVAIK VEEDEKNEAK KKKGEK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMIE can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Unknown

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.59

Highest tissue expression

14 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMIE.

Disease | AllUniProt

Conditions TMIE is implicated in, by any mechanism.

• Deafness, autosomal recessive, 6 (DFNB6) MIM:600971

Disease | GeneticClinVar

18 pathogenic / likely-pathogenic of 145 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive nonsyndromic hearing loss 6
• Sensorineural hearing loss disorder
• Rare genetic deafness
• Hearing loss, autosomal recessive
• Hearing impairment

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.81

gnomAD pLI

0

gnomAD missense Z

0.05

DepMap mean gene effect

0.09

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• inner ear morphogenesis
• sensory perception of sound

Cellular components

• membrane

Protein domainsUniProt · Pfam · InterPro

• Transmembrane inner ear expressed protein
• TMIE protein

KeywordsUniProt

• Deafness
• Membrane
• Non-syndromic deafness
• Signal
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of TMIE in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TOMT