{"gene":"TMEM138","run_date":"2026-06-10T10:51:55","timeline":{"discoveries":[{"year":2012,"finding":"Mutation of either TMEM138 or TMEM216 causes phenotypically indistinguishable Joubert syndrome ciliopathy; the two genes are arranged in a head-to-tail configuration joined by chromosomal rearrangement at the amphibian-to-reptile evolutionary transition, share a conserved cis-regulatory element in their intergenic region, and have an interdependent cellular role in vesicular transport to primary cilia.","method":"Human genetics (mutation identification), comparative genomics (synteny analysis), reporter assays for shared regulatory element, cell biological assays for vesicular transport to cilia","journal":"Science (New York, N.Y.)","confidence":"High","confidence_rationale":"Tier 2 / Strong — multiple orthogonal methods (genetics, genomics, regulatory assay, cellular functional assay) in a single rigorous study; independently cited and replicated in concept","pmids":["22282472"],"is_preprint":false},{"year":2016,"finding":"In C. elegans, TZ localization of TMEM-138 (Tmem138 orthologue) depends on CEP-290; however, TMEM-138 does not exhibit interdependent localization or genetic interactions with core MKS or NPHP module components, placing it in a distinct, CEP-290-associated TZ module separate from the canonical MKS and NPHP modules.","method":"Genetic epistasis in C. elegans (interdependent localization assays, double-mutant analysis), immunofluorescence of TZ proteins in cep-290 mutants","journal":"PLoS biology","confidence":"High","confidence_rationale":"Tier 2 / Strong — genetic epistasis with interdependent localization assays in a well-controlled C. elegans system, multiple module components tested in parallel","pmids":["26982032"],"is_preprint":false},{"year":2022,"finding":"Mouse Tmem138 localizes to the photoreceptor connecting cilium (CC), is required for localization of Ahi1 to the distal subdomain of the CC, is essential for rhodopsin localization (rhodopsin mislocalizes throughout the cell body before outer segment morphogenesis in knockouts), and is required for outer segment biogenesis and disc renewal; Tmem138 physically interacts (reciprocal co-IP) with rhodopsin and with Tmem231, and the ciliary localization of Tmem231 is altered in Tmem138 mutant photoreceptors.","method":"Germline and conditional (rod-specific) Tmem138 knockout mice; immunofluorescence/fractionation for protein localization; reciprocal co-immunoprecipitation for Tmem138–rhodopsin and Tmem138–Tmem231 interactions; electron microscopy of outer segment structure","journal":"Proceedings of the National Academy of Sciences of the United States of America","confidence":"High","confidence_rationale":"Tier 2 / Strong — reciprocal Co-IP for binding partners, germline and conditional KO with specific cellular phenotypes, multiple orthogonal readouts in one rigorous study","pmids":["35394880"],"is_preprint":false},{"year":2026,"finding":"Tmem138-deficient mice exhibit a reduced outer segment renewal rate, as directly measured by AAV-delivered photoconvertible Rhodopsin/Dendra2, confirming a functional role of Tmem138 in photoreceptor disc turnover.","method":"AAV-delivered Dendra2-tagged rhodopsin photoconversion assay in Tmem138 knockout mice; quantitative comparison of OS renewal lengths at two time points","journal":"Experimental eye research","confidence":"Medium","confidence_rationale":"Tier 2 / Weak — single lab, direct functional assay with a novel tool, single method for the renewal rate readout","pmids":["41747882"],"is_preprint":false}],"current_model":"TMEM138 is a transmembrane protein that localizes to the ciliary transition zone (and photoreceptor connecting cilium), where it occupies a distinct CEP-290-dependent module (separate from the MKS and NPHP modules); it physically interacts with rhodopsin and TMEM231, is required for correct rhodopsin trafficking to the outer segment, for TMEM231 and AHI1 localization within the connecting cilium, and for outer segment biogenesis and disc renewal, while its gene is co-regulated with the neighboring TMEM216 via a shared cis-regulatory element to coordinate their interdependent roles in vesicular transport to primary cilia."},"narrative":{"mechanistic_narrative":"TMEM138 is a transmembrane protein of the ciliary transition zone that governs the trafficking of ciliary membrane cargo and the biogenesis of the photoreceptor outer segment [PMID:22282472, PMID:35394880]. Its localization to the transition zone depends on CEP-290, and it occupies a distinct CEP-290-associated module separate from the canonical MKS and NPHP modules, showing no interdependent localization with their core components [PMID:26982032]. In photoreceptors, TMEM138 localizes to the connecting cilium where it physically interacts with rhodopsin and with TMEM231 and is required for delivery of rhodopsin to the outer segment, for positioning AHI1 and TMEM231 within the connecting cilium, and for outer segment morphogenesis and disc renewal [PMID:35394880, PMID:41747882]. The gene is encoded in a head-to-tail configuration with the neighboring TMEM216 and shares a conserved intergenic cis-regulatory element, coupling the two genes in an interdependent role in vesicular transport to primary cilia; loss-of-function mutation of either gene causes a phenotypically indistinguishable Joubert syndrome ciliopathy [PMID:22282472].","teleology":[{"year":2012,"claim":"Established TMEM138 as a ciliopathy gene and revealed it is genomically and regulatorily coupled to TMEM216, defining a shared role in vesicular transport to the primary cilium.","evidence":"Human mutation identification, comparative synteny analysis, reporter assays for the shared cis-regulatory element, and cellular vesicular-transport assays","pmids":["22282472"],"confidence":"High","gaps":["Did not define the molecular activity of TMEM138 at the cilium","Mechanism by which the two genes act interdependently in vesicular transport was not resolved"]},{"year":2016,"claim":"Placed TMEM138 within the transition-zone architecture by showing its localization is CEP-290-dependent yet independent of the MKS and NPHP modules, defining a distinct module.","evidence":"Genetic epistasis and interdependent localization assays with immunofluorescence in C. elegans cep-290 and module-component mutants","pmids":["26982032"],"confidence":"High","gaps":["Did not identify direct binding partners of TMEM138 in the module","How CEP-290 recruits TMEM138 was not determined"]},{"year":2022,"claim":"Defined TMEM138's photoreceptor function and direct partners, linking it to rhodopsin trafficking, connecting-cilium organization, and outer segment biogenesis.","evidence":"Germline and rod-specific Tmem138 knockout mice with immunofluorescence/fractionation, reciprocal co-IP for rhodopsin and TMEM231, and electron microscopy of outer segments","pmids":["35394880"],"confidence":"High","gaps":["Whether the rhodopsin and TMEM231 interactions are direct or bridged was not resolved","Structural basis of cargo selectivity unknown"]},{"year":2026,"claim":"Provided direct functional confirmation that TMEM138 supports ongoing photoreceptor disc turnover, not merely initial morphogenesis.","evidence":"AAV-delivered photoconvertible Dendra2-rhodopsin renewal assay in Tmem138 knockout mice with quantitative comparison of renewal length","pmids":["41747882"],"confidence":"Medium","gaps":["Single-lab measurement with one method for the renewal readout","Does not establish the step in renewal that TMEM138 controls"]},{"year":null,"claim":"The biochemical activity of TMEM138 as a transmembrane protein and the mechanism by which it mediates cargo transport to the cilium remain undefined.","evidence":"","pmids":[],"confidence":"Low","gaps":["No enzymatic or transport activity assigned","No structural model of TMEM138 or its complexes"]}],"mechanism_profile":{"molecular_activity":[],"localization":[{"term_id":"GO:0005929","term_label":"cilium","supporting_discovery_ids":[1,2]},{"term_id":"GO:0005886","term_label":"plasma membrane","supporting_discovery_ids":[2]}],"pathway":[{"term_id":"R-HSA-5653656","term_label":"Vesicle-mediated transport","supporting_discovery_ids":[0]},{"term_id":"R-HSA-1852241","term_label":"Organelle biogenesis and maintenance","supporting_discovery_ids":[2]}],"complexes":[],"partners":["RHO","TMEM231","AHI1","CEP290","TMEM216"],"other_free_text":[]}},"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":229,"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":110,"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":87,"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, N.Y.)","url":"https://pubmed.ncbi.nlm.nih.gov/22282472","citation_count":71,"is_preprint":false},{"pmid":"31316554","id":"PMC_31316554","title":"Single-Locus and Multi-Locus Genome-Wide Association Studies for Intramuscular Fat in Duroc Pigs.","date":"2019","source":"Frontiers in genetics","url":"https://pubmed.ncbi.nlm.nih.gov/31316554","citation_count":60,"is_preprint":false},{"pmid":"27434533","id":"PMC_27434533","title":"Molecular genetic analysis of 30 families with Joubert syndrome.","date":"2016","source":"Clinical genetics","url":"https://pubmed.ncbi.nlm.nih.gov/27434533","citation_count":44,"is_preprint":false},{"pmid":"35394880","id":"PMC_35394880","title":"Tmem138 is localized to the connecting cilium essential for rhodopsin localization and outer segment biogenesis.","date":"2022","source":"Proceedings of the National Academy of Sciences of the United States of 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":12,"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":6,"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":"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":"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":"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":9682,"output_tokens":1227,"usd":0.023726,"stage1_stop_reason":"end_turn"},"stage2":{"model":"claude-opus-4-8","input_tokens":7860,"output_tokens":1708,"usd":0.041,"stage2_stop_reason":"end_turn"},"total_usd":0.064726,"stage1_batch_id":"msgbatch_017qqVz33Ga63SCDwzb35XPb","stage2_batch_id":"msgbatch_01Scr2Ei9x4HJMiRGxwrmvLK","note":"batch pricing = 50% of standard"},"stage1_raw":"```json\n{\n  \"discoveries\": [\n    {\n      \"year\": 2012,\n      \"finding\": \"Mutation of either TMEM138 or TMEM216 causes phenotypically indistinguishable Joubert syndrome ciliopathy; the two genes are arranged in a head-to-tail configuration joined by chromosomal rearrangement at the amphibian-to-reptile evolutionary transition, share a conserved cis-regulatory element in their intergenic region, and have an interdependent cellular role in vesicular transport to primary cilia.\",\n      \"method\": \"Human genetics (mutation identification), comparative genomics (synteny analysis), reporter assays for shared regulatory element, cell biological assays for vesicular transport to cilia\",\n      \"journal\": \"Science (New York, N.Y.)\",\n      \"confidence\": \"High\",\n      \"confidence_rationale\": \"Tier 2 / Strong — multiple orthogonal methods (genetics, genomics, regulatory assay, cellular functional assay) in a single rigorous study; independently cited and replicated in concept\",\n      \"pmids\": [\"22282472\"],\n      \"is_preprint\": false\n    },\n    {\n      \"year\": 2016,\n      \"finding\": \"In C. elegans, TZ localization of TMEM-138 (Tmem138 orthologue) depends on CEP-290; however, TMEM-138 does not exhibit interdependent localization or genetic interactions with core MKS or NPHP module components, placing it in a distinct, CEP-290-associated TZ module separate from the canonical MKS and NPHP modules.\",\n      \"method\": \"Genetic epistasis in C. elegans (interdependent localization assays, double-mutant analysis), immunofluorescence of TZ proteins in cep-290 mutants\",\n      \"journal\": \"PLoS biology\",\n      \"confidence\": \"High\",\n      \"confidence_rationale\": \"Tier 2 / Strong — genetic epistasis with interdependent localization assays in a well-controlled C. elegans system, multiple module components tested in parallel\",\n      \"pmids\": [\"26982032\"],\n      \"is_preprint\": false\n    },\n    {\n      \"year\": 2022,\n      \"finding\": \"Mouse Tmem138 localizes to the photoreceptor connecting cilium (CC), is required for localization of Ahi1 to the distal subdomain of the CC, is essential for rhodopsin localization (rhodopsin mislocalizes throughout the cell body before outer segment morphogenesis in knockouts), and is required for outer segment biogenesis and disc renewal; Tmem138 physically interacts (reciprocal co-IP) with rhodopsin and with Tmem231, and the ciliary localization of Tmem231 is altered in Tmem138 mutant photoreceptors.\",\n      \"method\": \"Germline and conditional (rod-specific) Tmem138 knockout mice; immunofluorescence/fractionation for protein localization; reciprocal co-immunoprecipitation for Tmem138–rhodopsin and Tmem138–Tmem231 interactions; electron microscopy of outer segment structure\",\n      \"journal\": \"Proceedings of the National Academy of Sciences of the United States of America\",\n      \"confidence\": \"High\",\n      \"confidence_rationale\": \"Tier 2 / Strong — reciprocal Co-IP for binding partners, germline and conditional KO with specific cellular phenotypes, multiple orthogonal readouts in one 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 directly measured by AAV-delivered photoconvertible Rhodopsin/Dendra2, confirming a functional role of Tmem138 in photoreceptor disc turnover.\",\n      \"method\": \"AAV-delivered Dendra2-tagged rhodopsin photoconversion assay in Tmem138 knockout mice; quantitative comparison of OS renewal lengths at two time points\",\n      \"journal\": \"Experimental eye research\",\n      \"confidence\": \"Medium\",\n      \"confidence_rationale\": \"Tier 2 / Weak — single lab, direct functional assay with a novel tool, single method for the renewal rate readout\",\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 photoreceptor connecting cilium), where it occupies a distinct CEP-290-dependent module (separate from the MKS and NPHP modules); it physically interacts with rhodopsin and TMEM231, is required for correct rhodopsin trafficking to the outer segment, for TMEM231 and AHI1 localization within the connecting cilium, and for outer segment biogenesis and disc renewal, while its gene is co-regulated with the neighboring TMEM216 via a shared cis-regulatory element to coordinate their interdependent roles in vesicular transport to primary cilia.\"\n}\n```","stage2_raw":"{\n  \"mechanistic_narrative\": \"TMEM138 is a transmembrane protein of the ciliary transition zone that governs the trafficking of ciliary membrane cargo and the biogenesis of the photoreceptor outer segment [#0, #2]. Its localization to the transition zone depends on CEP-290, and it occupies a distinct CEP-290-associated module separate from the canonical MKS and NPHP modules, showing no interdependent localization with their core components [#1]. In photoreceptors, TMEM138 localizes to the connecting cilium where it physically interacts with rhodopsin and with TMEM231 and is required for delivery of rhodopsin to the outer segment, for positioning AHI1 and TMEM231 within the connecting cilium, and for outer segment morphogenesis and disc renewal [#2, #3]. The gene is encoded in a head-to-tail configuration with the neighboring TMEM216 and shares a conserved intergenic cis-regulatory element, coupling the two genes in an interdependent role in vesicular transport to primary cilia; loss-of-function mutation of either gene causes a phenotypically indistinguishable Joubert syndrome ciliopathy [#0].\",\n  \"teleology\": [\n    {\n      \"year\": 2012,\n      \"claim\": \"Established TMEM138 as a ciliopathy gene and revealed it is genomically and regulatorily coupled to TMEM216, defining a shared role in vesicular transport to the primary cilium.\",\n      \"evidence\": \"Human mutation identification, comparative synteny analysis, reporter assays for the shared cis-regulatory element, and cellular vesicular-transport assays\",\n      \"pmids\": [\"22282472\"],\n      \"confidence\": \"High\",\n      \"gaps\": [\"Did not define the molecular activity of TMEM138 at the cilium\", \"Mechanism by which the two genes act interdependently in vesicular transport was not resolved\"]\n    },\n    {\n      \"year\": 2016,\n      \"claim\": \"Placed TMEM138 within the transition-zone architecture by showing its localization is CEP-290-dependent yet independent of the MKS and NPHP modules, defining a distinct module.\",\n      \"evidence\": \"Genetic epistasis and interdependent localization assays with immunofluorescence in C. elegans cep-290 and module-component mutants\",\n      \"pmids\": [\"26982032\"],\n      \"confidence\": \"High\",\n      \"gaps\": [\"Did not identify direct binding partners of TMEM138 in the module\", \"How CEP-290 recruits TMEM138 was not determined\"]\n    },\n    {\n      \"year\": 2022,\n      \"claim\": \"Defined TMEM138's photoreceptor function and direct partners, linking it to rhodopsin trafficking, connecting-cilium organization, and outer segment biogenesis.\",\n      \"evidence\": \"Germline and rod-specific Tmem138 knockout mice with immunofluorescence/fractionation, reciprocal co-IP for rhodopsin and TMEM231, and electron microscopy of outer segments\",\n      \"pmids\": [\"35394880\"],\n      \"confidence\": \"High\",\n      \"gaps\": [\"Whether the rhodopsin and TMEM231 interactions are direct or bridged was not resolved\", \"Structural basis of cargo selectivity unknown\"]\n    },\n    {\n      \"year\": 2026,\n      \"claim\": \"Provided direct functional confirmation that TMEM138 supports ongoing photoreceptor disc turnover, not merely initial morphogenesis.\",\n      \"evidence\": \"AAV-delivered photoconvertible Dendra2-rhodopsin renewal assay in Tmem138 knockout mice with quantitative comparison of renewal length\",\n      \"pmids\": [\"41747882\"],\n      \"confidence\": \"Medium\",\n      \"gaps\": [\"Single-lab measurement with one method for the renewal readout\", \"Does not establish the step in renewal that TMEM138 controls\"]\n    },\n    {\n      \"year\": null,\n      \"claim\": \"The biochemical activity of TMEM138 as a transmembrane protein and the mechanism by which it mediates cargo transport to the cilium remain undefined.\",\n      \"evidence\": \"\",\n      \"pmids\": [],\n      \"confidence\": \"Low\",\n      \"gaps\": [\"No enzymatic or transport activity assigned\", \"No structural model of TMEM138 or its complexes\"]\n    }\n  ],\n  \"mechanism_profile\": {\n    \"molecular_activity\": [],\n    \"localization\": [\n      {\"term_id\": \"GO:0005929\", \"supporting_discovery_ids\": [1, 2]},\n      {\"term_id\": \"GO:0005886\", \"supporting_discovery_ids\": [2]}\n    ],\n    \"pathway\": [\n      {\"term_id\": \"R-HSA-5653656\", \"supporting_discovery_ids\": [0]},\n      {\"term_id\": \"R-HSA-1852241\", \"supporting_discovery_ids\": [2]}\n    ],\n    \"complexes\": [],\n    \"partners\": [\"RHO\", \"TMEM231\", \"AHI1\", \"CEP290\", \"TMEM216\"],\n    \"other_free_text\": []\n  }\n}","audit_flag":null,"evaluation":{"faith_supported":4,"faith_total":4,"faith_pct":100.0}}