TMEM107

This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of cilia, altered cilia length, and impaired sonic hedgehog signaling. In human patients, different mutations in this gene cause different ciliopathies, including Meckel-Gruber syndrome and orofaciodigital syndrome. [provided by RefSeq, May 2017]

Description

Transmembrane protein 107

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Plasma membrane, Midbody ring

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

Chromosome

17 (8172457 - 8176399)

Ensembl ID

ENSG00000179029  (ver. 103.38)

Orthologs

Mouse Tmem107: ENSMUSG00000020895

UniProt

Q6UX40

neXtProt

NX_Q6UX40

Human splice variants
Mouse splice variants

Protein structure