TMEM216

Summary

Gene Symbol: TMEM216
Description: 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. 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
  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 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
  7. 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
  8. 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
  9. 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
  10. 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

Scientific Experts

  • Enza Maria Valente
  • Byrappa Venkatesh
  • Ay Wang
  • Colin A Johnson
  • Clare V Logan
  • Friedhelm Hildebrandt
  • Nicholas Katsanis
  • Edgar A Otto
  • Hanan E Shamseldin
  • Anna Rajab
  • Jeong Ho Lee
  • Erica E Davis
  • Lijia Huang
  • Francesc R Garcia-Gonzalo
  • Gokul Ramaswami
  • Katharina Hopp
  • Simon Edvardson
  • Laszlo Sztriha
  • Lihadh Al-Gazali
  • Joseph G Gleeson
  • Lesley C Keeler
  • Salma Al Harassi
  • Fowzan S Alkuraya
  • Ranad Shaheen
  • Amal Alhashem
  • Tarfa Al-Shidi
  • Rana Alamro
  • Susan Ferro-Novick
  • Carsten Russ
  • Christopher P Bennett
  • Jennifer L Silhavy
  • Kiley J Hill
  • Sophie Thomas
  • Roshan Koul
  • Elizabeth R Waters
  • Stephanie L Bielas
  • Tania Attie-Bitach
  • Miriam Iannicelli
  • Maha S Zaki
  • Francesco Brancati
  • Ji Eun Lee
  • C Geoffrey Woods
  • Stacey B Gabriel
  • Bill H Diplas
  • Masumi Abe
  • Saghira Malik Sharif
  • Kevin D Ross
  • J Gellermann
  • M Eccles
  • Sabine Janssen
  • B Beck
  • M Koyun
  • Catrina M Loucks
  • J Chow
  • G Hidalgo
  • J F Hoffmann
  • C Kozma
  • Thomas Muller
  • B Milosevic
  • K Ounap
  • B Weidner
  • Bernd Hoppe
  • P Trnka
  • M Bitzan
  • Cheryl M Craft
  • S Andreoli
  • D Ross McLeod
  • H Omran
  • M Cadnapaphornchai
  • M J Schürmann
  • R Weleber
  • I Franke
  • Zakia Abdel-Hamed
  • Freddi I Zuniga
  • David V Milford
  • A M Wingen
  • A Nayir
  • J H H Ehrich
  • A Munch
  • H E Leichter
  • J Whittaker
  • Amiya K Ghosh
  • Oliver E Blacque
  • Allen D Seol
  • Weibin Zhou
  • S Fuchs
  • C Jones
  • Susan A Henke
  • Corinne Antignac
  • Matthias T Wolf

Detail Information

Publications15

  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. 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...
  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 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 ..
  7. 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.
  8. 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...
  9. 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 ..
  10. 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)...
  11. 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...
  12. 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...
  13. 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...
  14. doi 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...