Gene Gene information from NCBI Gene database.
Entrez ID 89894
Gene name Transmembrane protein 116
Gene symbol TMEM116
Synonyms (NCBI Gene)
-
Chromosome 12
Chromosome location 12q24.13
miRNA miRNA information provided by mirtarbase database.
21
miRTarBase ID miRNA Experiments Reference
MIRT439445 hsa-miR-127-5p HITS-CLIP 24374217
MIRT439445 hsa-miR-127-5p HITS-CLIP 24374217
MIRT1430036 hsa-miR-1184 CLIP-seq
MIRT1430037 hsa-miR-1205 CLIP-seq
MIRT1430038 hsa-miR-1296 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005575 Component Cellular_component ND
GO:0005789 Component Endoplasmic reticulum membrane IDA 37293153
GO:0007165 Process Signal transduction IEA
GO:0008150 Process Biological_process ND
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NCL8
Protein name Transmembrane protein 116
Family and domains
Sequence
MKHTQSGQSTSPLVIDYTCRVCQMAFVFSSLIPLLLMTPVFCLGNTSECFQNFSQSHKCI
LMHSPPSAMAELPPSANTSVCSTLYFYGIAIFLGSFVLSLLTIMVLLIRAQTLYKKFVKS
TGFLGSEQWAVIHIVDQRVRFYPVAFFCCWGPAVILMIIKLTKPQDTKLHMALYVLQALT
ATSQGLLNCGVYGWTQHKFHQLKQEARRDADTQTPLLCSQKRFYSRGLNSLESTLTFPAS
TSTIF
Sequence length 245
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM GWAS catalog
★★☆☆☆
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 26169495
★☆☆☆☆
Found in Text Mining only