Transmembrane protein 218 (TMEM218) Associated conditions:
1.
Joubert syndrome
mRNA Information: Transcript Variants and Protein Isoforms
| SNo. |
Status |
mRNA accession |
Protein accession |
Genomic DNA accession (Chromosome) |
mRNA location on genomic DNA |
Assembly |
UniProtkb ID |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
PubMed Links for Transcript Variants (Isoforms)
Link 115 reference articles
Variant Information Transmembrane protein 218 (TMEM218) Mutation Visualization Dashboard: Pathogenic variant distribution chart
ClinVar variants:Revealing mutagenic patterns
GO Term of Transmembrane protein 218 (TMEM218)
| SNo. |
Reported in speceis |
Evidence |
Qualifier |
GO term |
Category |
Pubmed Link |
| 1 | Homo sapiens | IPI | enables | protein binding | Function | 25416956 29892012 31515488
32296183 35137054 |
| 2 | Homo sapiens | IEA | located_in | cilium | Component | - |
| 3 | Homo sapiens | IEA | located_in | membrane | Component | - |