Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	259236
Gene name	Transmembrane inner ear
Gene symbol	TMIE
Synonyms (NCBI Gene)	DFNB6
Chromosome	3
Chromosome location	3p21.31
Summary	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

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28942096	C>T	Pathogenic	Missense variant, coding sequence variant
rs28942097	C>T	Pathogenic	Missense variant, coding sequence variant
rs267607120	G>A	Pathogenic	Coding sequence variant, stop gained
rs397517865	G>A,C	Likely-pathogenic	Intron variant
rs397517866	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs780689605	G>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs876657371	AGCCCAG>C	Pathogenic	Splice acceptor variant, coding sequence variant, 5 prime UTR variant
rs876661301	CGCC>-,CGCCCGCC	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1057517839	A>G	Pathogenic	Intron variant, missense variant, coding sequence variant

Show/Hide all (38)

miRTarBase ID	miRNA	Experiments
MIRT1440016	hsa-miR-1197	CLIP-seq
MIRT1440017	hsa-miR-1254	CLIP-seq
MIRT1440018	hsa-miR-1286	CLIP-seq
MIRT1440019	hsa-miR-1291	CLIP-seq
MIRT1440020	hsa-miR-1299	CLIP-seq
MIRT1440021	hsa-miR-3116	CLIP-seq
MIRT1440022	hsa-miR-3135	CLIP-seq
MIRT1440023	hsa-miR-3153	CLIP-seq
MIRT1440024	hsa-miR-342-5p	CLIP-seq
MIRT1440025	hsa-miR-3649	CLIP-seq
MIRT1440026	hsa-miR-3690	CLIP-seq
MIRT1440027	hsa-miR-3929	CLIP-seq
MIRT1440028	hsa-miR-4292	CLIP-seq
MIRT1440029	hsa-miR-4419b	CLIP-seq
MIRT1440030	hsa-miR-4436a	CLIP-seq
MIRT1440031	hsa-miR-4478	CLIP-seq
MIRT1440032	hsa-miR-4505	CLIP-seq
MIRT1440033	hsa-miR-4651	CLIP-seq
MIRT1440034	hsa-miR-4664-5p	CLIP-seq
MIRT1440035	hsa-miR-4668-5p	CLIP-seq
MIRT1440036	hsa-miR-4727-3p	CLIP-seq
MIRT1440037	hsa-miR-4731-5p	CLIP-seq
MIRT1440038	hsa-miR-486-3p	CLIP-seq
MIRT1440039	hsa-miR-488	CLIP-seq
MIRT1440040	hsa-miR-515-3p	CLIP-seq
MIRT1440041	hsa-miR-519e	CLIP-seq
MIRT1440042	hsa-miR-522	CLIP-seq
MIRT1440043	hsa-miR-608	CLIP-seq
MIRT1440044	hsa-miR-637	CLIP-seq
MIRT1440045	hsa-miR-645	CLIP-seq
MIRT1440046	hsa-miR-661	CLIP-seq
MIRT1440047	hsa-miR-711	CLIP-seq
MIRT1440048	hsa-miR-759	CLIP-seq
MIRT1440049	hsa-miR-875-3p	CLIP-seq
MIRT1440045	hsa-miR-645	CLIP-seq
MIRT2396060	hsa-miR-3187-3p	CLIP-seq
MIRT2396061	hsa-miR-4529-5p	CLIP-seq
MIRT2396062	hsa-miR-663b	CLIP-seq

Show/Hide all (5)

GO ID	Ontology	Definition	Evidence
GO:0007605	Process	Sensory perception of sound	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0016020	Component	Membrane	IEA
GO:0042472	Process	Inner ear morphogenesis	IBA
GO:0042472	Process	Inner ear morphogenesis	IEA

MIM	HGNC	e!Ensembl
607237	30800	ENSG00000181585

Q8NEW7

Protein name

Transmembrane inner ear expressed protein

Protein 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 dime

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16038	TMIE	46 → 134	TMIE protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in many tissues. {ECO:0000269|PubMed:12145746}.

Sequence

MAGWPGAGPLCVLGGAALGVCLAGVAGQLVEPSTAPPKPKPPPLTKETVVFWDMRLWHVV
GIFSLFVLSIIITLCCVFNCRVPRTRKEIEARYLQRKAAKMYTDKLETVPPLNELTEVPG
EDKKKKKKKKKDSVDTVAIKVEEDEKNEAKKKKGEK

Sequence length

156

Interactions

View interactions

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive nonsyndromic hearing loss 6	Pathogenic; Likely pathogenic	rs1700545926, rs876661301, rs28942097, rs28941781, rs876657371, rs267607120, rs1057517839	RCV001823285 RCV000003556 RCV000003558 RCV000003559 RCV000003560 RCV000003561 RCV002510572 RCV003447583
Ear malformation	Likely pathogenic	rs2106787058	RCV001814433
Hearing impairment	Likely pathogenic	rs28942097	RCV001375180
Hearing loss, autosomal recessive	Likely pathogenic	rs28942097	RCV001291483
Rare genetic deafness	Likely pathogenic	rs397517865, rs397517866	RCV000041229 RCV000041230
Sensorineural hearing loss disorder	Likely pathogenic; Pathogenic	rs28942097, rs876661301	RCV001353204 RCV001353203

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Hepatocellular carcinoma	Benign	rs4683315	RCV005897686
Ovarian cancer	Benign	rs4683315	RCV005897687
TMIE-related disorder	Conflicting classifications of pathogenicity; Likely benign	rs567795032, rs202208051, rs10578999, rs370964946, rs201107982	RCV003921188 RCV004751377 RCV003929881 RCV003420655 RCV003953070 RCV003944952

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Deafness	Associate	12145746, 29434063, 35710363
Deafness Autosomal Recessive 6	Associate	35710363
Hearing Loss	Associate	12145746, 16389551, 35710363
Hearing Loss Sensorineural	Associate	20146813, 35580552
Nonsyndromic Deafness	Associate	16389551
Nonsyndromic sensorineural hearing loss	Associate	16389551
Usher Syndromes	Associate	35580552

TMIE (transmembrane inner ear)