• Gene id: 259236

Gene Summary

• Gene Symbol: TMIE   Gene   UCSC   Ensembl
• Aliases: DFNB6
• Gene name: transmembrane inner ear
• Alternate names: transmembrane inner ear expressed protein, transmembrane inner ear protein,
• Gene location: 3p21.31 (46693777: 46710885)     Exons: 5     NC_000003.12
• Gene summary(Entrez): 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 multip
• OMIM: 176870

Protein Summary

• Protein general information: Q8NEW7  
  • Name: Transmembrane inner ear expressed protein
  • Length: 156  
  • Mass: 17241
  • Tissue specificity: Expressed in many tissues. {ECO
• Sequence:

  MAGWPGAGPLCVLGGAALGVCLAGVAGQLVEPSTAPPKPKPPPLTKETVVFWDMRLWHVVGIFSLFVLSIIITLC
  CVFNCRVPRTRKEIEARYLQRKAAKMYTDKLETVPPLNELTEVPGEDKKKKKKKKKDSVDTVAIKVEEDEKNEAK
  KKKGEK

• Structural information:
  • Interpro: IPR032006  
  • STRING: ENSP00000324775
• Other Databases: GeneCards:  TMIE  Malacards:  TMIE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042472	inner ear morphogenesis	IBA	biological process
GO:0007605	sensory perception of sound	IBA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal recessive	KEGG:H00605
Sensorineural hearing loss	PMID:12145746
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq