| Name | transmembrane protein 67 |
| Description | The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nTMEM67 was originally identified through positional cloning approaches as the gene encoding meckelin, a highly conserved 995–amino acid, seven‐transmembrane receptor protein expressed in key embryonic tissues such as the brain, kidney, and liver. Mutations in TMEM67 underlie a spectrum of severe developmental ciliopathies—including Meckel–Gruber, Joubert, and COACH syndromes—and have been implicated in instances of Bardet–Biedl syndrome through potential epistatic interactions. These discoveries, which established TMEM67 as a major genetic determinant in these diverse disorders, are detailed in early mapping and mutation‐discovery studies."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAt the cellular level, meckelin localizes prominently to the primary cilium and plasma membrane of epithelial cells, where it orchestrates multiple facets of ciliogenesis. Functional studies have shown that TMEM67 is essential for the proper migration of centrioles to the apical cell surface and for the subsequent formation and length regulation of the cilium. Meckelin also plays a pivotal role in gating functions at the ciliary transition zone, ensuring the correct trafficking of membrane-associated proteins such as ARL13B and INPP5E. Dysfunctions in TMEM67—whether through mislocalization or loss of its regulatory interactions (for example, with partners like MKS1 and via modulation by proteins such as filamin A in a TACC3-dependent manner)—lead to aberrant ciliary architecture (including elongated or multiple cilia) and impaired degradation processes in the endoplasmic reticulum. These molecular insights have been obtained through studies using patient-derived cells and animal models, as well as by employing advanced genetic and cell biological approaches."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "8", "end_ref": "17"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its direct role in ciliary assembly and maintenance, TMEM67 influences key developmental signaling pathways that determine tissue morphogenesis and homeostasis. Alterations in meckelin function not only perturb ciliary structure but also lead to dysregulation of canonical pathways—including aberrant Wnt signaling—which can contribute to both severe congenital malformations and milder organ-specific phenotypes such as congenital hepatic fibrosis and cholestasis. The broad genotype–phenotype correlations observed in TMEM67-mutated patients, alongside its emerging roles in diverse cellular contexts (ranging from neurodevelopment to even potential implications in urothelial carcinoma), underscore its dosage-sensitive impact on human development."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "18", "end_ref": "21"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Neil V Morgan, Paul Gissen, Saghira Malik Sharif, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-002-0817-0"}], "href": "https://doi.org/10.1007/s00439-002-0817-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12384791"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12384791"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Ursula M Smith, Mark Consugar, Louise J Tee, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng1713"}], "href": "https://doi.org/10.1038/ng1713"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16415887"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16415887"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Lekbir Baala, Stephane Romano, Rana Khaddour, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/510499"}], "href": "https://doi.org/10.1086/510499"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17160906"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17160906"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Helen R Dawe, Ursula M Smith, Andrew R Cullinane, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddl459"}], "href": "https://doi.org/10.1093/hmg/ddl459"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17185389"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17185389"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Rana Khaddour, Ursula Smith, Lekbir Baala, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.9489"}], "href": "https://doi.org/10.1002/humu.9489"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17397051"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17397051"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Carmen C Leitch, Norann A Zaghloul, Erica E Davis, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.97"}], "href": "https://doi.org/10.1038/ng.97"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18327255"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18327255"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.20924"}], "href": "https://doi.org/10.1002/humu.20924"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19058225"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19058225"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "E A Otto, K Tory, M Attanasio, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmg.2009.066613"}], "href": "https://doi.org/10.1136/jmg.2009.066613"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19508969"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19508969"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Rachaneekorn Tammachote, Cynthia J Hommerding, Rachel M Sinders, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddp272"}], "href": "https://doi.org/10.1093/hmg/ddp272"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19515853"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19515853"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "D Doherty, M A Parisi, L S Finn, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmg.2009.067249"}], "href": "https://doi.org/10.1136/jmg.2009.067249"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19574260"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19574260"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Mei Wang, James P Bridges, Cheng-Lun Na, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M109.034371"}], "href": "https://doi.org/10.1074/jbc.M109.034371"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19815549"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19815549"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.21239"}], "href": "https://doi.org/10.1002/humu.21239"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20232449"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20232449"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Edgar A Otto, Gokul Ramaswami, Sabine Janssen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmg.2010.082552"}], "href": "https://doi.org/10.1136/jmg.2010.082552"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21068128"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21068128"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Amanda C Leightner, Cynthia J Hommerding, Ying Peng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddt054"}], "href": "https://doi.org/10.1093/hmg/ddt054"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23393159"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23393159"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "E Du, Changwen Zhang, Zhenbang Qin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Low expression of TMEM67 is a critical predictor of poor prognosis in human urothelial carcinoma of the bladder."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Urol Oncol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.urolonc.2016.10.014"}], "href": "https://doi.org/10.1016/j.urolonc.2016.10.014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28161324"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28161324"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Yunkai Qie, Lin Wang, E Du, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TACC3 promotes prostate cancer cell proliferation and restrains primary cilium formation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Exp Cell Res (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.yexcr.2020.111952"}], "href": "https://doi.org/10.1016/j.yexcr.2020.111952"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32156598"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32156598"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Zhuoma Yinsheng, Ko Miyoshi, Yuanyuan Qin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TMEM67 is required for the gating function of the transition zone that controls entry of membrane-associated proteins ARL13B and INPP5E into primary cilia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2022.10.078"}], "href": "https://doi.org/10.1016/j.bbrc.2022.10.078"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36334440"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36334440"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Public Health Genomics (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1159/000477560"}], "href": "https://doi.org/10.1159/000477560"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28719906"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28719906"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "So-Hyun Lee, Tai-Seung Nam, Wenting Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-017-10652-z"}], "href": "https://doi.org/10.1038/s41598-017-10652-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28860541"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28860541"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Thi Phuong Hoa Bui, Ngoc Tu Nguyen, Van Doan Ngo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12881-020-0962-0"}], "href": "https://doi.org/10.1186/s12881-020-0962-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32000717"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32000717"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Yi-Ling Qiu, Li Wang, Min Huang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Physiol (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/jcp.30788"}], "href": "https://doi.org/10.1002/jcp.30788"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35621037"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35621037"}]}]}]}
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| Synonyms | NPHP11, MKS3, JBTS6, TNEM67, MECKELIN |
| Proteins | MKS3_HUMAN |
| NCBI Gene ID | 91147 |
| API | |
| Download Associations | |
| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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TMEM67 has 5,586 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 107 datasets.
Click the + buttons to view associations for TMEM67 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of TMEM67 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles | tissues with high or low expression of TMEM67 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of TMEM67 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray | tissue samples with high or low expression of TMEM67 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset. | |
| Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq | tissue samples with high or low expression of TMEM67 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset. | |
| Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of TMEM67 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
| BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of TMEM67 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. | |
| BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of TMEM67 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of TMEM67 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
| CCLE Cell Line Gene Expression Profiles | cell lines with high or low expression of TMEM67 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
| CCLE Cell Line Proteomics | Cell lines associated with TMEM67 protein from the CCLE Cell Line Proteomics dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with TMEM67 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of TMEM67 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of TMEM67 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of TMEM67 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| ClinVar Gene-Phenotype Associations | phenotypes associated with TMEM67 gene from the curated ClinVar Gene-Phenotype Associations dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with TMEM67 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing TMEM67 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing TMEM67 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with TMEM67 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with TMEM67 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of TMEM67 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| COSMIC Cell Line Gene Mutation Profiles | cell lines with TMEM67 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
| CTD Gene-Chemical Interactions | chemicals interacting with TMEM67 gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
| CTD Gene-Disease Associations | diseases associated with TMEM67 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
| DeepCoverMOA Drug Mechanisms of Action | small molecule perturbations with high or low expression of TMEM67 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by TMEM67 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores | diseases involving TMEM67 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving TMEM67 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with TMEM67 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with TMEM67 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with TMEM67 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with TMEM67 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with TMEM67 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at TMEM67 gene from the ENCODE Histone Modification Site Profiles dataset. | |
| ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of TMEM67 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of TMEM67 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing TMEM67 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
| GeneRIF Biological Term Annotations | biological terms co-occuring with TMEM67 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
| GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing TMEM67 from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of TMEM67 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
| GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of TMEM67 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of TMEM67 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of TMEM67 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of TMEM67 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of TMEM67 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GO Biological Process Annotations 2015 | biological processes involving TMEM67 gene from the curated GO Biological Process Annotations 2015 dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving TMEM67 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving TMEM67 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2015 | cellular components containing TMEM67 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing TMEM67 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing TMEM67 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GO Molecular Function Annotations 2015 | molecular functions performed by TMEM67 gene from the curated GO Molecular Function Annotations 2015 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by TMEM67 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by TMEM67 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of TMEM67 gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of TMEM67 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of TMEM67 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of TMEM67 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
| GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of TMEM67 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of TMEM67 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
| HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of TMEM67 gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
| HPA Tissue Gene Expression Profiles | tissues with high or low expression of TMEM67 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
| HPA Tissue Protein Expression Profiles | tissues with high or low expression of TMEM67 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
| HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of TMEM67 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
| HPO Gene-Disease Associations | phenotypes associated with TMEM67 gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. | |
| HuGE Navigator Gene-Phenotype Associations | phenotypes associated with TMEM67 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by TMEM67 gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| InterPro Predicted Protein Domain Annotations | protein domains predicted for TMEM67 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of TMEM67 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of TMEM67 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of TMEM67 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of TMEM67 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles | cell lines with high or low expression of TMEM67 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles | cell lines with TMEM67 gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. | |
| KnockTF Gene Expression Profiles with Transcription Factor Perturbations | transcription factor perturbations changing expression of TMEM67 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
| LOCATE Curated Protein Localization Annotations | cellular components containing TMEM67 protein in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain TMEM67 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by TMEM67 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of TMEM67 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
| MPO Gene-Phenotype Associations | phenotypes of transgenic mice caused by TMEM67 gene mutations from the MPO Gene-Phenotype Associations dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of TMEM67 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| NURSA Protein Complexes | protein complexs containing TMEM67 protein recovered by IP-MS from the NURSA Protein Complexes dataset. | |
| OMIM Gene-Disease Associations | phenotypes associated with TMEM67 gene from the curated OMIM Gene-Disease Associations dataset. | |
| Pathway Commons Protein-Protein Interactions | interacting proteins for TMEM67 from the Pathway Commons Protein-Protein Interactions dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of TMEM67 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations | gene perturbations changing expression of TMEM67 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| PFOCR Pathway Figure Associations 2023 | pathways involving TMEM67 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving TMEM67 protein from the Wikipathways PFOCR 2024 dataset. | |
| Reactome Pathways 2014 | pathways involving TMEM67 protein from the Reactome Pathways dataset. | |
| Reactome Pathways 2024 | pathways involving TMEM67 protein from the Reactome Pathways 2024 dataset. | |
| Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of TMEM67 gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of TMEM67 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at TMEM67 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of TMEM67 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of TMEM67 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Tahoe Therapeutics Tahoe 100M Perturbation Atlas | drug perturbations changing expression of TMEM67 gene from the Tahoe Therapeutics Tahoe 100M Perturbation Atlas dataset. | |
| TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of TMEM67 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of TMEM67 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
| TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of TMEM67 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of TMEM67 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of TMEM67 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores | tissues with high expression of TMEM67 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of TMEM67 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with TMEM67 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with TMEM67 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2024 | pathways involving TMEM67 protein from the WikiPathways Pathways 2024 dataset. | |
