Property Summary

NCBI Gene PubMed Count 12
PubMed Score 10.63
PubTator Score 5.14

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
posterior fossa group B ependymoma 1.300 8.6e-12
non primary Sjogren syndrome sicca 1.100 1.7e-02

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.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11042152 2000 Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.
9758620 1998 A gene for Meckel syndrome maps to chromosome 11q13.
8889549 1996 Generation and analysis of 280,000 human expressed sequence tags.