TMEM237 gene

transmembrane protein 237

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jan 2012]

From UniProt:

Component of the transition zone in primary cilia. Required for ciliogenesis.

From NCBI Gene:

  • Familial aplasia of the vermis
  • Joubert syndrome 14

From UniProt:

Joubert syndrome 14 (JBTS14): An autosomal recessive disorder characterized by severe mental retardation, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include renal disease, abnormal eye movements, and postaxial polydactyly. [MIM:614424]

Cytogenetic Location: 2q33.2, which is the long (q) arm of chromosome 2 at position 33.2

Molecular Location: base pairs 201,620,184 to 201,643,529 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q33.2, which is the long (q) arm of chromosome 2 at position 33.2
  • ALS2CR4
  • JBTS14