Property Summary

NCBI Gene PubMed Count 13
PubMed Score 10.55
PubTator Score 9.30

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Disease log2 FC p
astrocytic glioma -1.600 0.007
ependymoma -2.000 0.014
oligodendroglioma -1.300 0.030
glioblastoma -1.800 0.000
osteosarcoma -2.267 0.000
atypical teratoid/rhabdoid tumor -2.300 0.000
medulloblastoma, large-cell -1.100 0.004
primitive neuroectodermal tumor -1.100 0.004
tuberculosis 1.800 0.000
pediatric high grade glioma -2.100 0.000
pilocytic astrocytoma -1.400 0.000
sonic hedgehog group medulloblastoma -1.700 0.000
subependymal giant cell astrocytoma -2.539 0.004
Pick disease -1.200 0.000
ductal carcinoma in situ 1.100 0.003
invasive ductal carcinoma 1.500 0.004

Gene RIF (3)

PMID Text
23086778 We identify novel compound heterozygous ROGDI mutations in five typical Kohlschutter-Tonz syndrome families. Other families were negative for ROGDI mutations, suggesting genetic heterogeneity of atypical forms of the disease.
22482807 Homozygosity mapping localized the gene linked to Kohlschutter-Tonz syndrome to a 586,513 bp region (with a LOD score of 6.4) in chromosomal region 16p13.3. The nonsense mutation was homozygous in all affected individuals.
22424600 The finding that ROGDI mutations cause Kohlschutter-Tonz Syndrome indicates that the protein product of this gene plays an important role in neuronal development as well as amelogenesis.

AA Sequence

MATVMAATAAERAVLEEEFRWLLHDEVHAVLKQLQDILKEASLRFTLPGSGTEGPAKQENFILGSCGTDQ      1 - 70
VKGVLTLQGDALSQADVNLKMPRNNQLLHFAFREDKQWKLQQIQDARNHVSQAIYLLTSRDQSYQFKTGA     71 - 140
EVLKLMDAVMLQLTRARNRLTTPATLTLPEIAASGLTRMFAPALPSDLLVNVYINLNKLCLTVYQLHALQ    141 - 210
PNSTKNFRPAGGAVLHSPGAMFEWGSQRLEVSHVHKVECVIPWLNDALVYFTVSLQLCQQLKDKISVFSS    211 - 280
YWSYRPF                                                                   281 - 287
//

Text Mined References (15)

PMID Year Title
25565929 2014 A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome.
24630287 2014 Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel.
23086778 2013 Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22482807 2012 A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome.
22424600 2012 Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.
16381901 2006 The LIFEdb database in 2006.
16169070 2005 A human protein-protein interaction network: a resource for annotating the proteome.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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