Proteins/UNIPROT:Q9P0N5

TMEM216

ProteinUNIPROT:Q9P0N5

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..

Function from UniProtKB (Q9P0N5), read 2026-09-23. CC BY 4.0.

Curated compounds routed: 0

What the reference databases state

GenCC submitters' classifications

5 rows

ciliopathy has a germline basis in TMEM216DiseaseGenCC HGNC:25018|MONDO:0005308Inferred only
Joubert syndrome 2 has a germline basis in TMEM216DiseaseGenCC HGNC:25018|MONDO:0011963Inferred only
Joubert syndrome with oculorenal defect has a germline basis in TMEM216DiseaseGenCC HGNC:25018|MONDO:0009480Inferred only
Meckel syndrome has a germline basis in TMEM216DiseaseGenCC HGNC:25018|MONDO:0018921Inferred only
orofaciodigital syndrome type 6 has a germline basis in TMEM216DiseaseGenCC HGNC:25018|MONDO:0010176Inferred only

Statements

13 statements

13 statements · 4 reference databases · Subject: TMEM216 · Sources: gene ontology, Hetionet, Reactome, WikiPathways

Order

TMEM216 covaries with OR2V2ProteinHetionet hetionet:covaries:285659-51259Inferred only
TMEM216 covaries with SPRED3ProteinHetionet hetionet:covaries:399473-51259Inferred only
MCM3AP interacts with TMEM216ProteinHetionet hetionet:interacts:51259-8888Inferred only
TMEM216 participates in Anchoring of the basal body to the plasma membranePathwayReactome R-HSA-5620912Inferred only
TMEM216 participates in Assembly of the 9+0 primary ciliumPathwayReactome R-HSA-9975921Inferred only
TMEM216 participates in Bardet Biedl syndromePathwayWikiPathways WP5234Inferred only
TMEM216 participates in CiliopathiesPathwayWikiPathways WP4803Inferred only
TMEM216 participates in Cilium AssemblyPathwayReactome R-HSA-5617833Inferred only
TMEM216 participates in Genes related to primary cilium development based on CRISPR PathwayWikiPathways WP4536Inferred only
TMEM216 participates in Joubert syndromePathwayWikiPathways WP4656Inferred only
TMEM216 participates in Organelle biogenesis and maintenancePathwayReactome R-HSA-1852241Inferred only
TMEM216 regulates positive regulation of cilium assemblyBiological processgene ontology Q9P0N5|GO:0045724Inferred only

Show the remaining 1

TMEM216 regulates positive regulation of smoothened signaling pathwayBiological processgene ontology Q9P0N5|GO:0045880Inferred only

Other names

1 name

Resolves to: TMEM216

Also called: Transmembrane protein 216

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