InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TMEM237

Summary

InnateDB Protein

IDBP-293158.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TMEM237

Protein Name

transmembrane protein 237

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000386264

InnateDB Gene

IDBG-78719 (TMEM237)

Protein Structure

UniProt Annotation

Function

Component of the transition zone in primary cilia. Required for ciliogenesis. {ECO:0000269PubMed:22152675}.

Subcellular Localization

Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cell projection, cilium {ECO:0000269PubMed:22152675}. Note=Localizes at the proximal region of primary cilia were observed, consistent with localization to the transition zone. Anchored to the transition zone by RPGRIP1L.

Disease Associations

Joubert syndrome 14 (JBTS14) [MIM:614424]: 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. {ECO:0000269PubMed:22152675}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.