TMEM231

This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]

Description

Transmembrane protein 231

Tissue specificity

Tissue enriched (fallopian tube)

Subcell location

Vesicles

Predicted location

Intracellular, Membrane

Protein family

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

Chromosome

16 (75536741 - 75556268)

Ensembl ID

ENSG00000205084  (ver. 103.38)

Orthologs

Mouse Tmem231: ENSMUSG00000031951

UniProt

Q9H6L2

neXtProt

NX_Q9H6L2

Human splice variants
Mouse splice variants

Protein structure