Property Summary

NCBI Gene PubMed Count 12
Grant Count 5
R01 Count 5
Funding $284,611.58
PubMed Score 10.63
PubTator Score 5.14

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Gene RIF (4)

PMID Text
22282472 study reports that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable ciliopathy, Joubert syndrome; expression of the genes is mediated by a conserved regulatory element in the noncoding intergenic region
21068128 Observational study of gene-disease association. (HuGE Navigator)
20512146 Data show that a single G218T mutation (R73L in the protein) was identified in all cases of Ashkenazi Jewish descent.
20036350 a TMEM216 mutation may have a role in Joubert syndrome 2 (JBTS2) in Ashkenazi Jews

AA Sequence

MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDVVMLLLYLGIE      1 - 70
VIRLFFGTKGNLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLA     71 - 140
AFSRI                                                                     141 - 145
//

Text Mined References (14)

PMID Year Title
22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
22282472 2012 Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
21068128 2011 Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
20512146 2010 Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
20036350 2010 Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12917796 2003 Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.
12908130 2003 Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.
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