Genomes and Genes
Gene Symbol: TMEM216
Description: transmembrane protein 216
Alias: HSPC244, transmembrane protein 216
- A gene for Meckel syndrome maps to chromosome 11q13J Roume
Unité de Recherches sur les Handicaps Génétiques de lEnfant, INSERMU 393, France
Am J Hum Genet 63:1095-101. 1998..Our observation gives support to the clinical and genetic heterogeneity of MKS...
- Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformationEnza Maria Valente
IRCCS CSS, San Giovanni Rotondo and CSS Mendel, Rome, Italy
Am J Hum Genet 73:663-70. 2003..The acronym "CORS" is proposed for all loci associated with JS, CORSs, and related phenotypes sharing the MTI, because this neuroradiological sign seems to be the unifying feature of these clinically heterogeneous syndromes...
- Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3Lesley C Keeler
Neurogenetics Laboratory, Division of Pediatric Neurology, Department of Neurosciences, University of California, San Diego, CA, USA
Am J Hum Genet 73:656-62. 2003..We suggest the term "CORS2" for this new locus...
- C5orf42 is the major gene responsible for OFD syndrome type VIEstelle Lopez
Equipe d accueil EA 4271 GAD Génétique des Anomalies du Développement, IFR Santé STIC, Universite de Bourgogne, Dijon, France
Hum Genet 133:367-77. 2014..Its genetic aetiology remains largely unknown although mutations in the TMEM216 gene, responsible for Joubert (JBS2) and Meckel-Gruber (MKS2) syndromes, have been reported in two OFD VI ..
- Evolutionarily assembled cis-regulatory module at a human ciliopathy locusJeong Ho Lee
Neurogenetics Laboratory, Howard Hughes Medical Institute HHMI, Department of Neurosciences, University of California, San Diego, CA, USA
Science 335:966-9. 2012..Here, we report that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable human ciliopathy, Joubert syndrome...
- Basal vertebrates clarify the evolutionary history of ciliopathy-associated genes Tmem138 and Tmem216Byrappa Venkatesh
Comparative Genomics Lab, Institute of Molecular and Cell Biology, A STAR, Biopolis, Singapore
Mol Biol Evol 30:62-5. 2013..demonstrated that mutation in either of the transmembrane protein encoding genes, TMEM138 or TMEM216, causes phenotypically indistinguishable ciliopathy...
- Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndromeHanan E Shamseldin
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
Am J Hum Genet 93:555-60. 2013..The three genes linked to OFD-OFD1, TMEM216, and TCTN3-play a role in ciliary biology, a finding consistent with the clinical overlap between OFD and other ..
- Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutationSimon Edvardson
Hebrew University Medical Center, Jerusalem, Israel
Am J Hum Genet 86:93-7. 2010..mapping in 13 patients from eight Ashkenazi Jewish families, we identified a homozygous mutation, R12L, in the TMEM216 gene, in all affected individuals...
- Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesEnza Maria Valente
Mendel Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
Nat Genet 42:619-25. 2010..We now report that MKS2 and CORS2 (JBTS2) loci are allelic and caused by mutations in TMEM216, which encodes an uncharacterized tetraspan transmembrane protein...
- TMEM216 joins its ciliary cousins in ciliopathiesAy Wang
Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, 950 West 28th Avenue, Vancouver, BC, Canada V5Z 4H4 e mail
Clin Genet 79:45-7. 2011Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes Valente et al. (2010) Nature Genetics 42(7):619-625.
- Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategyEdgar A Otto
Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA
J Med Genet 48:105-16. 2011..To overcome the broad genetic locus heterogeneity, a strategy of DNA pooling with consecutive massively parallel resequencing (MPR) was devised...
- Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defectsClare V Logan
Section of Ophthalmology and Neurosciences, Wellcome Trust Brenner Building, Leeds Institute of Molecular Medicine, St James s University Hospital, Beckett Street, Leeds LS9 7TF, UK
Mol Neurobiol 43:12-26. 2011..MKS is genetically heterogeneous with six known disease genes: MKS1, MKS2/TMEM216, MKS3/TMEM67, RPGRIP1L, CEP290, and CC2D2A with the encoded proteins all implicated in the correct function of ..
- B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysisKatharina Hopp
Department of Biochemistry and Molecular Biology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Hum Mol Genet 20:2524-34. 2011..To date, six genes have been commonly associated with MKS (MKS1, TMEM67, TMEM216, CEP290, CC2D2A and RPGRIP1L)...
- A transition zone complex regulates mammalian ciliogenesis and ciliary membrane compositionFrancesc R Garcia-Gonzalo
Department of Biochemistry and Biophysics, University of California, San Francisco, San Francisco, California, USA
Nat Genet 43:776-84. 2011..forms a complex with multiple ciliopathy proteins associated with Meckel and Joubert syndromes, including Mks1, Tmem216, Tmem67, Cep290, B9d1, Tctn2 and Cc2d2a...
- TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneLijia Huang
Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada
Am J Hum Genet 89:713-30. 2011..elegans JBTS-14 and MKS-2/TMEM216, MKSR-1/B9D1, and MKSR-2/B9D2...