Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

9 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

38 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

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar Show/Hide Causal Diseases (6)
Autosomal recessive nonsyndromic hearing loss 6	Pathogenic; Likely pathogenic	rs1700545926, rs876661301, rs28942097, rs28941781, rs876657371, rs267607120, rs1057517839	RCV001823285 RCV000003556 RCV000003558 RCV000003559 RCV000003560 RCV000003561 RCV002510572 RCV003447583 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ear malformation	Likely pathogenic	rs2106787058	RCV001814433	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Likely pathogenic	rs28942097	RCV001375180	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive	Likely pathogenic	rs28942097	RCV001291483	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Likely pathogenic	rs397517865, rs397517866	RCV000041229 RCV000041230	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural hearing loss disorder	Likely pathogenic; Pathogenic	rs28942097, rs876661301	RCV001353204 RCV001353203	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (11)
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EAR ANOMALY NOS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 6	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nonsyndromic genetic hearing loss	—	ClinGen	ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TMIE-related disorder	Conflicting classifications of pathogenicity; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (13)
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	12145746, 29434063, 35710363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive 6	Deafness	Pubtator	35710363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 6	Deafness	UNIPROT_DG	12145746		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 6	Deafness	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 6	Deafness	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 6	Deafness	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss	Hearing loss	Pubtator	12145746, 16389551, 35710363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	20146813, 35580552	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	12140191, 12145746, 19438934, 19934034, 22787490, 24416283, 25467981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	16389551, 20206386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	8593615		★★★★★ ★☆☆☆☆ Found in Text Mining only
Usher Syndromes	Usher syndrome	Pubtator	35580552	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
MARVELD2	6	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Congenital ear anomaly","Deafness","Hereditary hearing loss","nonsyndromic genetic hearing loss"]	[]	12	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","GWAS catalog (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","Disgenet (Congenital ear anomaly)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","GWAS catalog (Hearing loss)","ClinVar (Hereditary hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
PJVK	6	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Congenital ear anomaly","Deafness","Hereditary hearing loss","nonsyndromic genetic hearing loss"]	[]	10	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","Disgenet (Congenital ear anomaly)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","ClinVar (Hereditary hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
CEACAM16	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Congenital ear anomaly","Deafness","nonsyndromic genetic hearing loss"]	[]	11	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","GWAS catalog (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","Disgenet (Congenital ear anomaly)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","GWAS catalog (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
ESRRB	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","Hereditary hearing loss","nonsyndromic genetic hearing loss"]	[]	11	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","GWAS catalog (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","GWAS catalog (Hearing loss)","ClinVar (Hereditary hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
KCNQ4	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","Hereditary hearing loss","nonsyndromic genetic hearing loss"]	[]	9	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","ClinVar (Hereditary hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]

TMIE (transmembrane inner ear)

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