Gene Gene information from NCBI Gene database.
Entrez ID 117531
Gene name Transmembrane channel like 1
Gene symbol TMC1
Synonyms (NCBI Gene)
DFNA36DFNB11DFNB7
Chromosome 9
Chromosome location 9q21.13
Summary This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been a
SNPs SNP information provided by dbSNP.
39
SNP ID Visualize variation Clinical significance Consequence
rs113342704 C>A,G,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, synonymous variant, missense variant
rs121908072 G>A,C Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs121908073 C>T Pathogenic Coding sequence variant, stop gained
rs121908074 A>G Pathogenic Coding sequence variant, missense variant
rs121908076 T>C Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
28
miRTarBase ID miRNA Experiments Reference
MIRT1427988 hsa-miR-1268 CLIP-seq
MIRT1427989 hsa-miR-1268b CLIP-seq
MIRT1427990 hsa-miR-128 CLIP-seq
MIRT1427991 hsa-miR-1285 CLIP-seq
MIRT1427992 hsa-miR-2117 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0005245 Function Voltage-gated calcium channel activity IBA
GO:0005245 Function Voltage-gated calcium channel activity IEA
GO:0005262 Function Calcium channel activity IEA
GO:0005262 Function Calcium channel activity ISS
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606706 16513 ENSG00000165091
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TDI8
Protein name Transmembrane channel-like protein 1 (Transmembrane cochlear-expressed protein 1)
Protein function Pore-forming subunit of the mechanotransducer (MET) non-selective cation channel complex located at the tips of stereocilia of cochlear hair cells and that mediates sensory transduction in the auditory system (By similarity). The MET complex is
PDB 8XOQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07810 TMC 515 630 TMC domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in fetal cochlea, and at low levels in placenta and testis.
Sequence
MSPKKVQIKVEEKEDETEESSSEEEEEVEDKLPRRESLRPKRKRTRDVINEDDPEPEPED
EETRKAREKERRRRLKRGAEEEEIDEEELERLKAELDEKRQIIATVKCKPWKMEKKIEVL
KEAKKFVSENEGALGKGKGKRWFAFKMMMAKKWAKFLRDFENFKAACVPWENKIKAIESQ
FGSSVASYFLFLRWMYGVNMVLFILTFSLIMLPEYLWGLPYGSLPRKTVPRAEEASAANF
GVLYDFNGLAQYSVLFYGYYDNKRTIGWMNFRLPLSYFLVGIMCIGYSFLVVLKAMTKNI
GDDGGGDDNTFNFSWKVFTSWDYLIGNPETADNKFNSITMNFKEAITEEKAAQVEENVHL
IRFLRFLANFFVFLTLGGSGYLIFWAVKRSQEFAQQDPDTLGWWEKNEMNMVMSLLGMFC
PTLFDLFAELEDYHPLIALKWLLGRIFALLLGNLYVFILALMDEINNKIEEEKLVKANIT
LWEANMIKAYNASFSENSTGPPFFVHPADVPRGPCWETMVGQEFVRLTVSDVLTTYVTIL
IGDFLRACFVRFCNYCWCWDLEYGYPSYTEFDISGNVLALIFNQGMIWMGSFFAPSLPGI
NILRLHTSMYFQCWAVMCCNVPEARVFKAS
RSNNFYLGMLLLILFLSTMPVLYMIVSLPP
SFDCGPFSGKNRMFEVIGETLEHDFPSWMAKILRQLSNPGLVIAVILVMVLAIYYLNATA
KGQKAANLDLKKKMKMQALENKMRNKKMAAARAAAAAGRQ
Sequence length 760
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
36
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal dominant nonsyndromic hearing loss 36 Likely pathogenic; Pathogenic rs747645756, rs2132189585, rs786201027, rs1448901281, rs121908072, rs121908073, rs876657727, rs138527651, rs878853229, rs777777359, rs2489958072, rs563322370, rs368084452, rs772640673, rs1289646352
View all (5 more)
RCV005040312
RCV004796651
RCV000162325
RCV005045190
RCV000004318
View all (16 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive nonsyndromic hearing loss 7 Likely pathogenic; Pathogenic rs1828864557, rs756960425, rs747645756, rs776689179, rs2132189585, rs1178631956, rs2118181420, rs2118284330, rs758288878, rs2489925983, rs1448901281, rs121908073, rs1169090943, rs121908076, rs876657727
View all (23 more)
RCV001328470
RCV001822894
RCV001822920
RCV006266867
RCV002051747
View all (33 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bilateral sensorineural hearing impairment Pathogenic rs747645067 RCV001027644
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness Pathogenic; Likely pathogenic rs2489883553, rs1564554255, rs773851192, rs1564555240, rs761261855 RCV004798964
RCV000679844
RCV000679842
RCV000679841
RCV000679843
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autosomal dominant non-syndromic sensorineural deafness type DFNA Non-Syndromic Sensorineural Deafness Orphanet
★☆☆☆☆
Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB Non-Syndromic Sensorineural Deafness Orphanet
★☆☆☆☆
Found in Text Mining only
Deafness Deafness Pubtator 18616530, 22607986, 23226338, 23767834, 24926664, 24949729, 25388789, 26011067, 26879195, 27573290, 29434063, 29533536, 29692870, 30682115, 32802042
View all (3 more)
Associate
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deafness Autosomal Recessive Deafness Pubtator 24926664, 29270100 Associate
★☆☆☆☆
Found in Text Mining only
Deafness Autosomal Recessive 7 Deafness Pubtator 21250555, 34523024 Associate
★☆☆☆☆
Found in Text Mining only
Deafness, Autosomal Dominant 36 Deafness CLINVAR_DG 11850618, 17250663, 19180119
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 36 Deafness UNIPROT_DG 11850618, 25388789
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 36 Deafness BEFREE 17250663
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 36 Deafness GENOMICS_ENGLAND_DG 24827932
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 36 Deafness CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations