TMEM138

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]

Description

Transmembrane protein 138

Tissue specificity

Low tissue specificity

Subcell location

Microtubules

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

11 (61362344 - 61369509)

Ensembl ID

ENSG00000149483  (ver. 103.38)

Orthologs

Mouse Tmem138: ENSMUSG00000024666

UniProt

Q9NPI0

neXtProt

NX_Q9NPI0

Human splice variants
Mouse splice variants

Protein structure