{"gene":"TMEM138","run_date":"2026-04-28T21:42:59","timeline":{"discoveries":[{"year":2012,"finding":"TMEM138 and TMEM216 are aligned in a head-to-tail configuration joined by chromosomal rearrangement at the amphibian-to-reptile evolutionary transition; expression of both genes is mediated by a conserved regulatory element in the noncoding intergenic region, and their coordinated expression is important for their interdependent cellular role in vesicular transport to primary cilia. Mutation of either gene causes phenotypically indistinguishable Joubert syndrome ciliopathy.","method":"Genetic mapping, chromosomal synteny analysis, cis-regulatory element identification, functional studies of vesicular transport to primary cilia","journal":"Science (New York, N.Y.)","confidence":"High","confidence_rationale":"Tier 2 — multiple orthogonal methods (genomics, regulatory element analysis, cellular functional assay), replicated across species","pmids":["22282472"],"is_preprint":false},{"year":2016,"finding":"In C. elegans, TMEM-138 (Tmem138 ortholog) localizes to the ciliary transition zone in a CEP-290-dependent manner but does not show interdependent localization or genetic interactions with core MKS or NPHP module components, suggesting it belongs to a distinct CEP-290-associated module. Pathogenic mutations in Tmem138 are associated with Oral-Facial-Digital syndrome type 6 (OFD6).","method":"Epistasis analysis, interdependent protein localization hierarchy in C. elegans, patient fibroblast ciliogenesis assays","journal":"PLoS biology","confidence":"High","confidence_rationale":"Tier 2 — genetic epistasis combined with localization hierarchy and patient cell functional studies","pmids":["26982032"],"is_preprint":false},{"year":2022,"finding":"Tmem138 localizes to the photoreceptor connecting cilium (CC) and is required for: (1) rhodopsin localization prior to outer segment (OS) morphogenesis, (2) Ahi1 localization to the distal subdomain of the CC, and (3) OS biogenesis and disc renewal. Tmem138 physically interacts (reciprocal co-immunoprecipitation) with rhodopsin and Tmem231, and loss of Tmem138 alters ciliary localization of Tmem231. Germline or conditional rod-specific deletion abolishes OS morphogenesis and causes rapid photoreceptor degeneration.","method":"Germline and conditional knockout mouse, reciprocal Co-IP, immunofluorescence localization, subcellular fractionation","journal":"Proceedings of the National Academy of Sciences of the United States of America","confidence":"High","confidence_rationale":"Tier 1–2 — KO mouse with defined cellular phenotype, reciprocal Co-IP, multiple orthogonal localization methods in single rigorous study","pmids":["35394880"],"is_preprint":false},{"year":2026,"finding":"Tmem138-deficient mice exhibit a reduced outer segment renewal rate, as measured by AAV-delivered photoconvertible Rhodopsin/Dendra2, confirming Tmem138's functional role in disc renewal dynamics in mature photoreceptors.","method":"AAV-delivered Dendra2-tagged rhodopsin photoconversion assay in Tmem138-knockout mice","journal":"Experimental eye research","confidence":"Medium","confidence_rationale":"Tier 2 — clean KO with specific quantitative phenotypic readout, single study","pmids":["41747882"],"is_preprint":false}],"current_model":"TMEM138 is a transmembrane protein that localizes to the ciliary transition zone (and the analogous photoreceptor connecting cilium) in a CEP290-dependent manner, where it functions in vesicular transport to primary cilia, acts as part of a distinct CEP290-associated module separate from the core MKS/NPHP complexes, physically interacts with rhodopsin and Tmem231, and is essential for rhodopsin trafficking, outer segment biogenesis, and disc renewal in photoreceptors; loss-of-function mutations cause Joubert syndrome ciliopathy."},"narrative":{"teleology":[{"year":2012,"claim":"Establishing that TMEM138 is a ciliary gene with a role in vesicular transport to primary cilia resolved its basic cellular function and linked it to Joubert syndrome, a ciliopathy previously associated with its genomic neighbor TMEM216.","evidence":"Chromosomal synteny analysis, cis-regulatory element identification, and vesicular transport assays in mammalian cells","pmids":["22282472"],"confidence":"High","gaps":["Precise molecular cargo carried during vesicular transport not identified","No structural information on TMEM138 or its interaction with TMEM216","Mechanism by which shared regulatory element coordinates expression unknown"]},{"year":2016,"claim":"Placing TMEM138 in a CEP290-dependent but MKS/NPHP-independent module at the transition zone clarified its hierarchical position within the ciliary gate protein network.","evidence":"Genetic epistasis and interdependent localization hierarchy in C. elegans, complemented by patient fibroblast ciliogenesis assays","pmids":["26982032"],"confidence":"High","gaps":["Identity of other components in the CEP290-associated module beyond TMEM138 incompletely defined","Whether the CEP290-dependent localization mechanism is conserved in vertebrates not directly tested","Direct biochemical interaction between TMEM138 and CEP290 not demonstrated"]},{"year":2022,"claim":"Demonstrating that Tmem138 physically interacts with rhodopsin and Tmem231 and is required for rhodopsin trafficking, Ahi1 localization, and outer segment morphogenesis provided a concrete molecular mechanism for its ciliary transport function in photoreceptors.","evidence":"Germline and conditional rod-specific knockout mice, reciprocal co-immunoprecipitation, immunofluorescence, and subcellular fractionation","pmids":["35394880"],"confidence":"High","gaps":["Whether TMEM138 directly binds rhodopsin or requires bridging factors is unclear","How Tmem138 loss disrupts Ahi1 localization mechanistically is not resolved","No structure-function analysis of TMEM138 domains"]},{"year":2026,"claim":"Quantifying reduced outer segment disc renewal rate in Tmem138-deficient photoreceptors confirmed its ongoing role in disc dynamics beyond initial OS morphogenesis.","evidence":"AAV-delivered Dendra2-tagged rhodopsin photoconversion assay in Tmem138-knockout mice","pmids":["41747882"],"confidence":"Medium","gaps":["Single study using one quantitative readout; independent replication pending","Whether reduced renewal reflects a trafficking defect, disc assembly defect, or both is unresolved","Contribution of TMEM138 to disc renewal in cones not examined"]},{"year":null,"claim":"Key unresolved questions include the structural basis of TMEM138 function, identification of its full interactome at the transition zone, and whether its vesicular transport role operates through the same mechanism in photoreceptors and other ciliated cell types.","evidence":"","pmids":[],"confidence":"Low","gaps":["No structural or atomic-resolution model of TMEM138","Full composition of the CEP290-associated module unknown","Mechanism linking TMEM138 to vesicle docking or fusion at the ciliary base undefined"]}],"mechanism_profile":{"molecular_activity":[{"term_id":"GO:0060090","term_label":"molecular adaptor activity","supporting_discovery_ids":[0,2]}],"localization":[{"term_id":"GO:0005929","term_label":"cilium","supporting_discovery_ids":[1,2]}],"pathway":[{"term_id":"R-HSA-5653656","term_label":"Vesicle-mediated transport","supporting_discovery_ids":[0,2]},{"term_id":"R-HSA-1852241","term_label":"Organelle biogenesis and maintenance","supporting_discovery_ids":[1,2]}],"complexes":[],"partners":["TMEM216","CEP290","RHO","TMEM231","AHI1"],"other_free_text":[]},"mechanistic_narrative":"TMEM138 is a ciliary transition zone transmembrane protein that functions in vesicular transport to primary cilia and is essential for outer segment morphogenesis and disc renewal in photoreceptors. It localizes to the transition zone in a CEP290-dependent manner as part of a distinct module separate from the core MKS and NPHP complexes, and it physically interacts with rhodopsin and Tmem231 to mediate rhodopsin trafficking and proper ciliary protein localization [PMID:26982032, PMID:35394880]. TMEM138 is co-regulated with TMEM216 via a shared cis-regulatory element, and their coordinated expression is required for their interdependent roles in ciliogenesis; loss-of-function mutations in TMEM138 cause Joubert syndrome [PMID:22282472]. In photoreceptors, Tmem138 deletion abolishes outer segment biogenesis, disrupts Ahi1 localization to the connecting cilium distal subdomain, and reduces disc renewal rate, leading to rapid photoreceptor degeneration [PMID:35394880, PMID:41747882]."},"prefetch_data":{"uniprot":{"accession":"Q9NPI0","full_name":"Transmembrane protein 138","aliases":[],"length_aa":162,"mass_kda":19.3,"function":"Required for ciliogenesis","subcellular_location":"Vacuole membrane; Cell projection, cilium","url":"https://www.uniprot.org/uniprotkb/Q9NPI0/entry"},"depmap":{"release":"DepMap","has_data":true,"is_common_essential":false,"resolved_as":"","url":"https://depmap.org/portal/gene/TMEM138","classification":"Not Classified","n_dependent_lines":0,"n_total_lines":1208,"dependency_fraction":0.0},"opencell":{"profiled":false,"resolved_as":"","ensg_id":"","cell_line_id":"","localizations":[],"interactors":[],"url":"https://opencell.sf.czbiohub.org/search/TMEM138","total_profiled":1310},"omim":[{"mim_id":"614465","title":"JOUBERT SYNDROME 16; JBTS16","url":"https://www.omim.org/entry/614465"},{"mim_id":"614459","title":"TRANSMEMBRANE PROTEIN 138; TMEM138","url":"https://www.omim.org/entry/614459"},{"mim_id":"613277","title":"TRANSMEMBRANE PROTEIN 216; TMEM216","url":"https://www.omim.org/entry/613277"},{"mim_id":"600045","title":"DNA DAMAGE-BINDING PROTEIN 1; DDB1","url":"https://www.omim.org/entry/600045"},{"mim_id":"213300","title":"JOUBERT SYNDROME 1; JBTS1","url":"https://www.omim.org/entry/213300"}],"hpa":{"profiled":true,"resolved_as":"","reliability":"Approved","locations":[{"location":"Microtubules","reliability":"Approved"},{"location":"Primary cilium","reliability":"Approved"}],"tissue_specificity":"Low tissue specificity","tissue_distribution":"Detected in all","driving_tissues":[],"url":"https://www.proteinatlas.org/search/TMEM138"},"hgnc":{"alias_symbol":["HSPC196","JBTS16"],"prev_symbol":[]},"alphafold":{"accession":"Q9NPI0","domains":[{"cath_id":"1.20.120","chopping":"5-162","consensus_level":"high","plddt":87.1754,"start":5,"end":162}],"viewer_url":"https://alphafold.ebi.ac.uk/entry/Q9NPI0","model_url":"https://alphafold.ebi.ac.uk/files/AF-Q9NPI0-F1-model_v6.cif","pae_url":"https://alphafold.ebi.ac.uk/files/AF-Q9NPI0-F1-predicted_aligned_error_v6.png","plddt_mean":86.56},"mouse_models":{"mgi_url":"https://www.informatics.jax.org/marker/summary?nomen=TMEM138","jax_strain_url":"https://www.jax.org/strain/search?query=TMEM138"},"sequence":{"accession":"Q9NPI0","fasta_url":"https://rest.uniprot.org/uniprotkb/Q9NPI0.fasta","uniprot_url":"https://www.uniprot.org/uniprotkb/Q9NPI0/entry","alphafold_viewer_url":"https://alphafold.ebi.ac.uk/entry/Q9NPI0"}},"corpus_meta":[{"pmid":"29025994","id":"PMC_29025994","title":"Loci associated with skin pigmentation identified in African populations.","date":"2017","source":"Science (New York, N.Y.)","url":"https://pubmed.ncbi.nlm.nih.gov/29025994","citation_count":227,"is_preprint":false},{"pmid":"26982032","id":"PMC_26982032","title":"MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.","date":"2016","source":"PLoS biology","url":"https://pubmed.ncbi.nlm.nih.gov/26982032","citation_count":108,"is_preprint":false},{"pmid":"28289185","id":"PMC_28289185","title":"Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.","date":"2017","source":"Journal of medical genetics","url":"https://pubmed.ncbi.nlm.nih.gov/28289185","citation_count":85,"is_preprint":false},{"pmid":"22282472","id":"PMC_22282472","title":"Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.","date":"2012","source":"Science (New York, 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America","url":"https://pubmed.ncbi.nlm.nih.gov/35394880","citation_count":21,"is_preprint":false},{"pmid":"38713101","id":"PMC_38713101","title":"Skin colour: A window into human phenotypic evolution and environmental adaptation.","date":"2024","source":"Molecular ecology","url":"https://pubmed.ncbi.nlm.nih.gov/38713101","citation_count":10,"is_preprint":false},{"pmid":"34899357","id":"PMC_34899357","title":"Pan-Cancer Analysis Reveals Alternative Splicing Characteristics Associated With Immune-Related Adverse Events Elicited by Checkpoint Immunotherapy.","date":"2021","source":"Frontiers in pharmacology","url":"https://pubmed.ncbi.nlm.nih.gov/34899357","citation_count":8,"is_preprint":false},{"pmid":"34821546","id":"PMC_34821546","title":"Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance.","date":"2021","source":"Fetal and pediatric pathology","url":"https://pubmed.ncbi.nlm.nih.gov/34821546","citation_count":5,"is_preprint":false},{"pmid":"22936720","id":"PMC_22936720","title":"Basal vertebrates clarify the evolutionary history of ciliopathy-associated genes Tmem138 and Tmem216.","date":"2012","source":"Molecular biology and evolution","url":"https://pubmed.ncbi.nlm.nih.gov/22936720","citation_count":4,"is_preprint":false},{"pmid":"34354814","id":"PMC_34354814","title":"The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients.","date":"2021","source":"F1000Research","url":"https://pubmed.ncbi.nlm.nih.gov/34354814","citation_count":4,"is_preprint":false},{"pmid":"36922987","id":"PMC_36922987","title":"Molecular characteristics and transcriptional regulatory of spermatogenesis-related gene RFX2 in adult Banna mini-pig inbred line (BMI).","date":"2023","source":"Animal reproduction","url":"https://pubmed.ncbi.nlm.nih.gov/36922987","citation_count":2,"is_preprint":false},{"pmid":"40432436","id":"PMC_40432436","title":"TMEM138: From Biological Functions to Diseases.","date":"2025","source":"Physiological research","url":"https://pubmed.ncbi.nlm.nih.gov/40432436","citation_count":0,"is_preprint":false},{"pmid":"41747882","id":"PMC_41747882","title":"Comparison of rod photoreceptor outer segment renewal in wild type and Tmem138-deficient mice using AAV-delivered Dendra2-tagged rhodopsin.","date":"2026","source":"Experimental eye research","url":"https://pubmed.ncbi.nlm.nih.gov/41747882","citation_count":0,"is_preprint":false},{"pmid":"41409134","id":"PMC_41409134","title":"Visualization of photoreceptor outer segment renewal using AAV-delivered Dendra2-tagged rhodopsin.","date":"2025","source":"bioRxiv : the preprint server for biology","url":"https://pubmed.ncbi.nlm.nih.gov/41409134","citation_count":0,"is_preprint":false}],"cost":{"stage1":{"model":"claude-sonnet-4-6","input_tokens":8918,"output_tokens":1128,"usd":0.021837},"stage2":{"model":"claude-opus-4-6","input_tokens":4329,"output_tokens":1457,"usd":0.087105},"total_usd":0.108942,"stage1_batch_id":"msgbatch_01RPbVc9PDH9zQmYK5Hs6srm","stage2_batch_id":"msgbatch_01JVbVLzeKN2yVrsGp3zC8aM","note":"batch pricing = 50% of standard"},"stage1_raw":"```json\n{\n  \"discoveries\": [\n    {\n      \"year\": 2012,\n      \"finding\": \"TMEM138 and TMEM216 are aligned in a head-to-tail configuration joined by chromosomal rearrangement at the amphibian-to-reptile evolutionary transition; expression of both genes is mediated by a conserved regulatory element in the noncoding intergenic region, and their coordinated expression is important for their interdependent cellular role in vesicular transport to primary cilia. Mutation of either gene causes phenotypically indistinguishable Joubert syndrome ciliopathy.\",\n      \"method\": \"Genetic mapping, chromosomal synteny analysis, cis-regulatory element identification, functional studies of vesicular transport to primary cilia\",\n      \"journal\": \"Science (New York, N.Y.)\",\n      \"confidence\": \"High\",\n      \"confidence_rationale\": \"Tier 2 — multiple orthogonal methods (genomics, regulatory element analysis, cellular functional assay), replicated across species\",\n      \"pmids\": [\"22282472\"],\n      \"is_preprint\": false\n    },\n    {\n      \"year\": 2016,\n      \"finding\": \"In C. elegans, TMEM-138 (Tmem138 ortholog) localizes to the ciliary transition zone in a CEP-290-dependent manner but does not show interdependent localization or genetic interactions with core MKS or NPHP module components, suggesting it belongs to a distinct CEP-290-associated module. Pathogenic mutations in Tmem138 are associated with Oral-Facial-Digital syndrome type 6 (OFD6).\",\n      \"method\": \"Epistasis analysis, interdependent protein localization hierarchy in C. elegans, patient fibroblast ciliogenesis assays\",\n      \"journal\": \"PLoS biology\",\n      \"confidence\": \"High\",\n      \"confidence_rationale\": \"Tier 2 — genetic epistasis combined with localization hierarchy and patient cell functional studies\",\n      \"pmids\": [\"26982032\"],\n      \"is_preprint\": false\n    },\n    {\n      \"year\": 2022,\n      \"finding\": \"Tmem138 localizes to the photoreceptor connecting cilium (CC) and is required for: (1) rhodopsin localization prior to outer segment (OS) morphogenesis, (2) Ahi1 localization to the distal subdomain of the CC, and (3) OS biogenesis and disc renewal. Tmem138 physically interacts (reciprocal co-immunoprecipitation) with rhodopsin and Tmem231, and loss of Tmem138 alters ciliary localization of Tmem231. Germline or conditional rod-specific deletion abolishes OS morphogenesis and causes rapid photoreceptor degeneration.\",\n      \"method\": \"Germline and conditional knockout mouse, reciprocal Co-IP, immunofluorescence localization, subcellular fractionation\",\n      \"journal\": \"Proceedings of the National Academy of Sciences of the United States of America\",\n      \"confidence\": \"High\",\n      \"confidence_rationale\": \"Tier 1–2 — KO mouse with defined cellular phenotype, reciprocal Co-IP, multiple orthogonal localization methods in single rigorous study\",\n      \"pmids\": [\"35394880\"],\n      \"is_preprint\": false\n    },\n    {\n      \"year\": 2026,\n      \"finding\": \"Tmem138-deficient mice exhibit a reduced outer segment renewal rate, as measured by AAV-delivered photoconvertible Rhodopsin/Dendra2, confirming Tmem138's functional role in disc renewal dynamics in mature photoreceptors.\",\n      \"method\": \"AAV-delivered Dendra2-tagged rhodopsin photoconversion assay in Tmem138-knockout mice\",\n      \"journal\": \"Experimental eye research\",\n      \"confidence\": \"Medium\",\n      \"confidence_rationale\": \"Tier 2 — clean KO with specific quantitative phenotypic readout, single study\",\n      \"pmids\": [\"41747882\"],\n      \"is_preprint\": false\n    }\n  ],\n  \"current_model\": \"TMEM138 is a transmembrane protein that localizes to the ciliary transition zone (and the analogous photoreceptor connecting cilium) in a CEP290-dependent manner, where it functions in vesicular transport to primary cilia, acts as part of a distinct CEP290-associated module separate from the core MKS/NPHP complexes, physically interacts with rhodopsin and Tmem231, and is essential for rhodopsin trafficking, outer segment biogenesis, and disc renewal in photoreceptors; loss-of-function mutations cause Joubert syndrome ciliopathy.\"\n}\n```","stage2_raw":"```json\n{\n  \"mechanistic_narrative\": \"TMEM138 is a ciliary transition zone transmembrane protein that functions in vesicular transport to primary cilia and is essential for outer segment morphogenesis and disc renewal in photoreceptors. It localizes to the transition zone in a CEP290-dependent manner as part of a distinct module separate from the core MKS and NPHP complexes, and it physically interacts with rhodopsin and Tmem231 to mediate rhodopsin trafficking and proper ciliary protein localization [PMID:26982032, PMID:35394880]. TMEM138 is co-regulated with TMEM216 via a shared cis-regulatory element, and their coordinated expression is required for their interdependent roles in ciliogenesis; loss-of-function mutations in TMEM138 cause Joubert syndrome [PMID:22282472]. In photoreceptors, Tmem138 deletion abolishes outer segment biogenesis, disrupts Ahi1 localization to the connecting cilium distal subdomain, and reduces disc renewal rate, leading to rapid photoreceptor degeneration [PMID:35394880, PMID:41747882].\",\n  \"teleology\": [\n    {\n      \"year\": 2012,\n      \"claim\": \"Establishing that TMEM138 is a ciliary gene with a role in vesicular transport to primary cilia resolved its basic cellular function and linked it to Joubert syndrome, a ciliopathy previously associated with its genomic neighbor TMEM216.\",\n      \"evidence\": \"Chromosomal synteny analysis, cis-regulatory element identification, and vesicular transport assays in mammalian cells\",\n      \"pmids\": [\"22282472\"],\n      \"confidence\": \"High\",\n      \"gaps\": [\n        \"Precise molecular cargo carried during vesicular transport not identified\",\n        \"No structural information on TMEM138 or its interaction with TMEM216\",\n        \"Mechanism by which shared regulatory element coordinates expression unknown\"\n      ]\n    },\n    {\n      \"year\": 2016,\n      \"claim\": \"Placing TMEM138 in a CEP290-dependent but MKS/NPHP-independent module at the transition zone clarified its hierarchical position within the ciliary gate protein network.\",\n      \"evidence\": \"Genetic epistasis and interdependent localization hierarchy in C. elegans, complemented by patient fibroblast ciliogenesis assays\",\n      \"pmids\": [\"26982032\"],\n      \"confidence\": \"High\",\n      \"gaps\": [\n        \"Identity of other components in the CEP290-associated module beyond TMEM138 incompletely defined\",\n        \"Whether the CEP290-dependent localization mechanism is conserved in vertebrates not directly tested\",\n        \"Direct biochemical interaction between TMEM138 and CEP290 not demonstrated\"\n      ]\n    },\n    {\n      \"year\": 2022,\n      \"claim\": \"Demonstrating that Tmem138 physically interacts with rhodopsin and Tmem231 and is required for rhodopsin trafficking, Ahi1 localization, and outer segment morphogenesis provided a concrete molecular mechanism for its ciliary transport function in photoreceptors.\",\n      \"evidence\": \"Germline and conditional rod-specific knockout mice, reciprocal co-immunoprecipitation, immunofluorescence, and subcellular fractionation\",\n      \"pmids\": [\"35394880\"],\n      \"confidence\": \"High\",\n      \"gaps\": [\n        \"Whether TMEM138 directly binds rhodopsin or requires bridging factors is unclear\",\n        \"How Tmem138 loss disrupts Ahi1 localization mechanistically is not resolved\",\n        \"No structure-function analysis of TMEM138 domains\"\n      ]\n    },\n    {\n      \"year\": 2026,\n      \"claim\": \"Quantifying reduced outer segment disc renewal rate in Tmem138-deficient photoreceptors confirmed its ongoing role in disc dynamics beyond initial OS morphogenesis.\",\n      \"evidence\": \"AAV-delivered Dendra2-tagged rhodopsin photoconversion assay in Tmem138-knockout mice\",\n      \"pmids\": [\"41747882\"],\n      \"confidence\": \"Medium\",\n      \"gaps\": [\n        \"Single study using one quantitative readout; independent replication pending\",\n        \"Whether reduced renewal reflects a trafficking defect, disc assembly defect, or both is unresolved\",\n        \"Contribution of TMEM138 to disc renewal in cones not examined\"\n      ]\n    },\n    {\n      \"year\": null,\n      \"claim\": \"Key unresolved questions include the structural basis of TMEM138 function, identification of its full interactome at the transition zone, and whether its vesicular transport role operates through the same mechanism in photoreceptors and other ciliated cell types.\",\n      \"evidence\": \"\",\n      \"pmids\": [],\n      \"confidence\": \"Low\",\n      \"gaps\": [\n        \"No structural or atomic-resolution model of TMEM138\",\n        \"Full composition of the CEP290-associated module unknown\",\n        \"Mechanism linking TMEM138 to vesicle docking or fusion at the ciliary base undefined\"\n      ]\n    }\n  ],\n  \"mechanism_profile\": {\n    \"molecular_activity\": [\n      {\"term_id\": \"GO:0060090\", \"supporting_discovery_ids\": [0, 2]}\n    ],\n    \"localization\": [\n      {\"term_id\": \"GO:0005929\", \"supporting_discovery_ids\": [1, 2]}\n    ],\n    \"pathway\": [\n      {\"term_id\": \"R-HSA-5653656\", \"supporting_discovery_ids\": [0, 2]},\n      {\"term_id\": \"R-HSA-1852241\", \"supporting_discovery_ids\": [1, 2]}\n    ],\n    \"complexes\": [],\n    \"partners\": [\n      \"TMEM216\",\n      \"CEP290\",\n      \"RHO\",\n      \"TMEM231\",\n      \"AHI1\"\n    ],\n    \"other_free_text\": []\n  }\n}\n```"}