TMEM138 gene

transmembrane protein 138

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

From NCBI Gene:

This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinated with expression of the neighboring gene TMEM216. Mutations in this gene are associated with the autosomal recessive neurodevelopmental disorder Joubert Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

From UniProt:

Required for ciliogenesis.

From NCBI Gene:

  • Familial aplasia of the vermis
  • Joubert syndrome 16

From UniProt:

Joubert syndrome 16 (JBTS16): An autosomal recessive disorder characterized by oculomotor apraxia, variable coloboma, and rare kidney involvement. Neuroradiologically, it is characterized by an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and polydactyly. [MIM:614465]

Cytogenetic Location: 11q12.2, which is the long (q) arm of chromosome 11 at position 12.2

Molecular Location: base pairs 61,362,001 to 61,376,502 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q12.2, which is the long (q) arm of chromosome 11 at position 12.2
  • HSPC196