Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51259
MIM: 613277
HGNC: 25018
Ensembl: ENSG00000187049
Variants:
dbSNP: 51259
ClinVar: 51259
TCGA: ENSG00000187049
COSMIC: TMEM216
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000187049 | ENST00000334888 | Q9P0N5 |
| ENSG00000187049 | ENST00000398979 | J3QT25 |
| ENSG00000187049 | ENST00000515837 | Q9P0N5 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Organelle biogenesis and maintenance | REACTOME | R-HSA-1852241 |
| Cilium Assembly | REACTOME | R-HSA-5617833 |
| Anchoring of the basal body to the plasma membrane | REACTOME | R-HSA-5620912 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 22282472 | 2012 | Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. | 44 |
| 22282472 | 2012 | Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. | 44 |
| 21068128 | 2011 | Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. | 72 |
| 21068128 | 2011 | Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. | 72 |
| 20036350 | 2010 | Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. | 42 |
| 20512146 | 2010 | Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. | 159 |
| 20036350 | 2010 | Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. | 42 |
| 20512146 | 2010 | Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. | 159 |
Citation
Dessen P
TMEM216 (transmembrane protein 216)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74882/tmem216-(transmembrane-protein-216)
