Gene Gene information from NCBI Gene database.
Entrez ID 219854
Gene name Transmembrane protein 218
Gene symbol TMEM218
Synonyms (NCBI Gene)
JBTS39
Chromosome 11
Chromosome location 11q24.2
miRNA miRNA information provided by mirtarbase database.
209
miRTarBase ID miRNA Experiments Reference
MIRT720654 hsa-miR-4803 HITS-CLIP 19536157
MIRT615250 hsa-miR-5009-3p HITS-CLIP 19536157
MIRT720653 hsa-miR-302b-5p HITS-CLIP 19536157
MIRT720652 hsa-miR-302d-5p HITS-CLIP 19536157
MIRT720651 hsa-miR-3143 HITS-CLIP 19536157
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:0005515 Function Protein binding IPI 25416956, 29892012, 31515488, 32296183, 35137054
GO:0005929 Component Cilium IEA
GO:0016020 Component Membrane IEA
GO:0042995 Component Cell projection IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619285 27344 ENSG00000150433
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A2RU14
Protein name Transmembrane protein 218
Protein function May be involved in ciliary biogenesis or function.
Family and domains
Sequence
MAGTVLGVGAGVFILALLWVAVLLLCVLLSRASGAARFSVIFLFFGAVIITSVLLLFPRA
GEFPAPEVEVKIVDDFFIGRYVLLAFLSAIFLGGLFLVLIHYVLEPIYAKPLHSY
Sequence length 115
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
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
Joubert syndrome Likely pathogenic; Pathogenic rs141744337, rs1950967763 RCV001263490
RCV001263491
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome 39 Likely pathogenic; Pathogenic rs1248550491, rs141744337, rs1950967763 RCV002223152
RCV001729826
RCV001729827
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meckel syndrome, type 4 Likely pathogenic; Pathogenic rs141744337, rs758805438 RCV001263493
RCV001263492
★★★★☆
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
CILIOPATHIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CILIOPATHY GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF PART OF BRAIN Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOPLASIA OF PART OF BRAIN Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Cerebral Infarction Associate 32785988
★☆☆☆☆
Found in Text Mining only
Inflammation Associate 32785988
★☆☆☆☆
Found in Text Mining only