Transmembrane protein 107 (TMEM107)

Transmembrane protein 107 (TMEM107) is a membrane protein located in the transition zone of primary cilia, essential for ciliogenesis, ciliary gating, and regulation of ciliary composition[1][5][8]. It orchestrates Sonic hedgehog signaling during neural development and interacts with key morphogenic complexes (e.g., MKS complex)[1][4][5]. Loss-of-function mutations disrupt cilia structure and function, causing genetic ciliopathies such as Joubert syndrome, Meckel-Gruber syndrome, and orofaciodigital syndrome[1][8][5]. In cancer, particularly NSCLC, TMEM107 acts as a tumor suppressor: low abundance correlates with increased EMT, cell migration, and poor prognosis, with functional involvement in Hedgehog pathway modulation[2]. TMEM107 also plays roles in craniofacial and retinal development, linking it to congenital malformations[3][8]. No direct drug interactions are currently reported, but Hedgehog pathway inhibitors (e.g., GANT61) can modulate the cellular effects arising from TMEM107 deficiency[2]. TMEM107 expression serves as a molecular and prognostic biomarker, especially in lung cancer and ciliopathies[2][1][5]. Germline loss-of-function is associated with severe developmental syndromes, so therapeutic targeting is likely limited to context-specific, somatic roles (e.g., in cancer).

Other names

TMEM107DC20UNQ638/PRO1268MGC10744JBTS29 (Joubert syndrome 29)MKS13 (Meckel syndrome 13)GRVS638PRO1268hTMEM107TMEM107pHGNC:28128NCBI Gene:84314Ensembl: ENSG00000179029UniProtKB/Swiss-Prot: Q6UX40

Inhibition of Hedgehog signaling (by GANT61) to mitigate EMT and cancer cell invasion promoted by TMEM107 deficiency