TMEM216

Summary

Gene Symbol: TMEM216
Description: transmembrane protein 216
Alias: HSPC244, transmembrane protein 216
Species: human

Top Publications

  1. pmc A gene for Meckel syndrome maps to chromosome 11q13
    J Roume
    Unité de Recherches sur les Handicaps Génétiques de lEnfant, INSERMU 393, France
    Am J Hum Genet 63:1095-101. 1998
  2. pmc Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation
    Enza Maria Valente
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel, Rome, Italy
    Am J Hum Genet 73:663-70. 2003
  3. pmc Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3
    Lesley 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
  4. doi C5orf42 is the major gene responsible for OFD syndrome type VI
    Estelle 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
  5. pmc Evolutionarily assembled cis-regulatory module at a human ciliopathy locus
    Jeong Ho Lee
    Neurogenetics Laboratory, Howard Hughes Medical Institute HHMI, Department of Neurosciences, University of California, San Diego, CA, USA
    Science 335:966-9. 2012
  6. pmc Basal vertebrates clarify the evolutionary history of ciliopathy-associated genes Tmem138 and Tmem216
    Byrappa Venkatesh
    Comparative Genomics Lab, Institute of Molecular and Cell Biology, A STAR, Biopolis, Singapore
    Mol Biol Evol 30:62-5. 2013
  7. pmc Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome
    Hanan E Shamseldin
    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    Am J Hum Genet 93:555-60. 2013
  8. pmc Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation
    Simon Edvardson
    Hebrew University Medical Center, Jerusalem, Israel
    Am J Hum Genet 86:93-7. 2010
  9. pmc Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
    Enza 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
  10. doi TMEM216 joins its ciliary cousins in ciliopathies
    Ay 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. 2011

Scientific Experts

  • Byrappa Venkatesh
  • Ay Wang
  • Enza Maria Valente
  • Colin A Johnson
  • Clare V Logan
  • Nicholas Katsanis
  • Friedhelm Hildebrandt
  • Edgar A Otto
  • Estelle Lopez
  • Tania Attie-Bitach
  • Hanan E Shamseldin
  • Anna Rajab
  • Mohammad Shboul
  • Jeong Ho Lee
  • Erica E Davis
  • Lijia Huang
  • Francesc R Garcia-Gonzalo
  • Gokul Ramaswami
  • Katharina Hopp
  • Simon Edvardson
  • Lihadh Al-Gazali
  • Joseph G Gleeson
  • Laszlo Sztriha
  • Lesley C Keeler
  • Pascale Kleinfinger
  • Brunella Franco
  • Bernard Aral
  • Julien Thévenon
  • Jun ichi Takanashi
  • Didier Lacombe
  • Stanislas Lyonnet
  • Catherine Noël
  • Martine Le Merrer
  • Hulya Kayserili
  • Yeliz Guven
  • Nadège Gigot
  • Jean Baptiste Rivière
  • Bruno Reversade
  • Hélène Ansart-Franquet
  • Lydie Burglen
  • Nadia El Khartoufi
  • Frederic Huet
  • Cedric Le Caignec
  • Jelena Martinovic
  • Irahara Kaori
  • Ferechte Razavi
  • Lena Ho
  • Véronique Darmency-Stamboul
  • Muriel Holder
  • Magali Avila
  • Louise Devisme
  • Laurence Faivre
  • Christel Thauvin-Robinet
  • Rana Alamro
  • Salma Al Harassi
  • Fowzan S Alkuraya
  • Tarfa Al-Shidi
  • Ranad Shaheen
  • Amal Alhashem
  • Stephanie L Bielas
  • Carsten Russ
  • C Geoffrey Woods
  • Roshan Koul
  • Jennifer L Silhavy
  • Saghira Malik Sharif
  • Masumi Abe
  • Stacey B Gabriel
  • Miriam Iannicelli
  • Ji Eun Lee
  • Sophie Thomas
  • Maha S Zaki
  • Francesco Brancati
  • Christopher P Bennett
  • Kiley J Hill
  • Bill H Diplas
  • Elizabeth R Waters
  • Susan Ferro-Novick
  • E Kuwertz-Broeking
  • J Höpfner
  • H E Leichter
  • J Drube
  • B Milosevic
  • Peter Nurnberg
  • R Sandford
  • M Eccles
  • T Erler
  • M Heckel
  • Dan Doherty
  • R Schonberg
  • D Michalk

Detail Information

Publications16

  1. pmc A gene for Meckel syndrome maps to chromosome 11q13
    J 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...
  2. pmc Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation
    Enza 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...
  3. pmc Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3
    Lesley 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...
  4. doi C5orf42 is the major gene responsible for OFD syndrome type VI
    Estelle 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 ..
  5. pmc Evolutionarily assembled cis-regulatory module at a human ciliopathy locus
    Jeong 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...
  6. pmc Basal vertebrates clarify the evolutionary history of ciliopathy-associated genes Tmem138 and Tmem216
    Byrappa 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...
  7. pmc Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome
    Hanan 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 ..
  8. pmc Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation
    Simon 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...
  9. pmc Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
    Enza 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...
  10. doi TMEM216 joins its ciliary cousins in ciliopathies
    Ay 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. 2011
    Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes Valente et al. (2010) Nature Genetics 42(7):619-625.
  11. pmc Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
    Edgar 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...
  12. doi Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects
    Clare 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 ..
  13. pmc B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis
    Katharina 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)...
  14. pmc A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
    Francesc 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...
  15. pmc TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
    Lijia 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...