Mar 30, 2025 · TMEM216 (Transmembrane Protein 216) is a Protein Coding gene. Diseases associated with TMEM216 include Joubert Syndrome 2 and Meckel Syndrome, Type 2. Among its related pathways are Organelle biogenesis and maintenance and Loss of Nlp from mitotic centrosomes. An important paralog of this gene is TMEM80.

Transmembrane protein 216 is a protein in humans that is encoded by the TMEM216 gene. [5]

Jan 23, 2024 · TMEM216 is a four-pass transmembrane protein that is predicted to form two extracellular loops and one intracellular loop (12). It forms a complex with multiple proteins associated with Meckel and Joubert syndrome, such as …

Data show that a single G218T mutation (R73L in the protein) was identified in all cases of Ashkenazi Jewish descent. This locus encodes a transmembrane domain-containing protein.

Joubert syndrome (JBTS), related disorders (JSRD) and Meckel syndrome (MKS) are ciliopathies. We now report that MKS2 and JBTS2 loci are allelic and due to mutations in TMEM216, encoding an uncharacterized tetraspan transmembrane protein.

Apr 12, 2021 · In contrast, mutated Tetrahymena TMEM216 (L113R and I132X), IFT54 (I17S) and IFT81 (D709Afs) were stable and could be visualized in Tetrahymena cells.

Oct 29, 2024 · By searching for genes in a region of chromosome 11 linked to Joubert syndrome-2 (JBTS2; 608091), Edvardson et al. (2010) identified TMEM216. The deduced 87-amino acid protein has 2 transmembrane domains. Valente et al. (2010) identified a …

Tmem216, tmem216: Callorhinchus milii (Ghost shark) 145 AA: A0A8C5YPF8: A0A8C5YPF8_MARMA: Transmembrane protein 216: TMEM216, Tmem216: Marmota marmota marmota (Alpine marmot) 141 AA: A0A250YA39: A0A250YA39_CASCN: Transmembrane protein 216: TMEM216, Tmem216: Castor canadensis (American beaver) 141 AA: A0A8I5QKJ7: A0A8I5QKJ7_HUMAN: Transmembrane ...

Nov 23, 2023 · Clinical resource with information about TMEM216, Joubert syndrome 2, Meckel syndrome, type 2, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

Jul 1, 2020 · Purpose: Mutations in TMEM216, a ciliary transition zone tetraspan transmembrane protein, are linked to Joubert syndrome and Meckel syndrome. Photoreceptor degeneration is a prominent phenotype in Joubert syndrome. How TMEM216 contributes to photoreceptor health is poorly understood.