Gene: TMEM237
Alternate names for this Gene: ALS2CR4|JBTS14
Gene Summary: The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene.
Gene is located in Chromosome: 2
Location in Chromosome : 2q33.1
Description of this Gene: transmembrane protein 237
Type of Gene: protein-coding
rs55902839 in
TMEM237 gene and
Carcinoma of lung
PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.
rs199469707 in
TMEM237 gene and
JOUBERT SYNDROME 14
PMID 22152675 2011 TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.