transmembrane protein 216
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalNeurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalOphthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalRare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomalRenal ciliopathies
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
BIALLELIC, autosomal or pseudoautosomal+14 more panels — install the extension to see the full list inline on any page.
Joubert syndrome
Joubert syndrome 2
Meckel syndrome, type 2
Joubert syndrome with oculorenal defect
Meckel syndrome
retinitis pigmentosa 98
hereditary disease
Joubert syndrome and related disorders
Joubert syndrome with orofaciodigital defect
retinitis pigmentosa
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Transmembrane protein 216
Essential for primary ciliogenesis and embryonic development, facilitating the activation of Hedgehog (Hh) signaling pathway. Disrupts the interaction of GLI2 and GLI3 with the negative regulator SUFU. Inhibiting SUFU's interaction with GLI2 promotes the entry of GLI2 into the nucleus, allowing it to activate Hh target gene expression. Disrupting SUFU's interaction with GLI3 prevents its conversion into the repressor form, leading to increased nuclear GLI3 and enhanced Hh signaling. Required for the proper development and structural integrity of photoreceptor outer segment disks, ensuring normal outer segment morphogenesis and survival of photoreceptors
Curated MONDO disease pages that list TMEM216 among their top associated genes.
TMEM216 · Q9P0N5
Mean pLDDT
89.1/ 100
Confident
145 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
