Identity
HGNC
LOCATION
16q23.1
LOCUSID
ALIAS
ALYE870,JBTS20,MKS11,PRO1886
FUSION GENES
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: 79583
MIM: 614949
HGNC: 37234
Ensembl: ENSG00000205084
Variants:
dbSNP: 79583
ClinVar: 79583
TCGA: ENSG00000205084
COSMIC: TMEM231
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31663672 | 2020 | Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome. | 8 |
| 31663672 | 2020 | Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome. | 8 |
| 27449316 | 2016 | TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family. | 12 |
| 27449316 | 2016 | TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family. | 12 |
| 25869670 | 2015 | TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. | 69 |
| 25869670 | 2015 | TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. | 69 |
| 23349226 | 2013 | Mutations in TMEM231 cause Meckel-Gruber syndrome. | 18 |
| 23349226 | 2013 | Mutations in TMEM231 cause Meckel-Gruber syndrome. | 18 |
| 23012439 | 2012 | Mutations in TMEM231 cause Joubert syndrome in French Canadians. | 40 |
| 23012439 | 2012 | Mutations in TMEM231 cause Joubert syndrome in French Canadians. | 40 |
Citation
Dessen P
TMEM231 (transmembrane protein 231)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74895/tmem231-(transmembrane-protein-231)
