Gene Gene information from NCBI Gene database.
Entrez ID 342125
Gene name Transmembrane channel like 3
Gene symbol TMC3
Synonyms (NCBI Gene)
-
Chromosome 15
Chromosome location 15q25.1
miRNA miRNA information provided by mirtarbase database.
1
miRTarBase ID miRNA Experiments Reference
MIRT026133 hsa-miR-192-5p Microarray 19074876
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IEA
GO:0008381 Function Mechanosensitive monoatomic ion channel activity IBA
GO:0016020 Component Membrane IEA
GO:0034220 Process Monoatomic ion transmembrane transport IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617196 22995 ENSG00000188869
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z5M5
Protein name Transmembrane channel-like protein 3
Protein function Probable component of an ion channel (Probable). Molecular function hasn't been characterized yet (Probable).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07810 TMC 499 614 TMC domain Domain
Sequence
MKTSKASQRYRGIRRNASQCYLYQESLLLSNLDDSFSADETGDSNDPEQIFQNIQFQKDL
MANIRCRPWTMGQKLRALRQAKNIVLKFEGRLTRTRGYQAAGAELWRKFARLACNFVVIF
IPWEMRIKKIESHFGSGVASYFIFLRWLFGINIVLTIMTGAFIVIPELIAGQPFGSTARK
TIPKEQVSSAQDLDTVWSLGGYLQYSVLFYGYYGRERKIGRAGYRLPLAYFLVGMAVFAY
SFIILLKKMAKNSRTSLASASNENYTFCWRVFCAWDYLIGNPEAAESKTAAIVNSIREAI
LEEQEKKKSKNLAVTICLRIIANILVLLSLAGSIYLIYFVVDRSQKLEQSKKELTLWEKN
EVSVVVSLVTMIAPSAFDLIAALEMYHPRTTLRFQLARVLVLYLGNLYSLIIALLDKVNS
MSIEEMATKNNTSHWIDSTTFFATRTAPEEEKWSTSRPGMGLRRNNTWALEETSISAYTM
PLIKANKTSLHTQSPQDQCWETYVGQEMLKLSIIDMLFTVASILLIDFFRGLFVRYLSDY
WCWDLESKFPEYGEFKIAENVLHLVYNQGMIWMGAFFSPCLPAFNVLKLIGLMYLRSWAV
LTCNVPHQQVFRAS
RSNNFYLAMLLFMLFLCMLPTIFAIVRYKPSLNCGPFSGQEKIYDI
VSETIEKDFPVWFGSVVGHISSPVVILPAVLLLFMLIYYLQSIARSLKLSNHQLKMQIQN
ARSEDKKKVAQMVEARIQTQEESTKKLPNDSDLTSQLSSAHSGTPQNNGNVAHFDSGSSK
SGRIETVAQSMPQSPRPGDRAPSSPLPGVPKSRLEHETNRYLHGLCASTSDLHRNRSRTP
MTFTTHIEDVHSEPLFRKDFQQINPPHRGPQASTLLAQGPRPHAPRYYVINECDSYKKKH
LNVWPERHFKIDASGDIVELYPRNVRQYASRVPRQPPSPQLSEEEEETPSRDWIKRSLPP
RSLIDLRRAPHFYIGERSESQTRDPEHQGRVHYKSWNEDFEGHLERPAYVPRKPRSRNFQ
YPQPPLKPRGKPRFEPSLTESDSVSAASSSDQQNSSADQYLQVTHSQGRFPRSVGQPSRR
KAKSGQELTVDLDDLICSDV
Sequence length 1100
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
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
HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Carcinoma Renal Cell Associate 37468683
★☆☆☆☆
Found in Text Mining only
Hypertension Associate 37451613
★★☆☆☆
Found in Text Mining + Unknown/Other Associations