Property Summary

NCBI Gene PubMed Count 13
PubMed Score 10.55
PubTator Score 9.30

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count
Kohlschutter Tonz syndrome 1
Disease Target Count P-value
atypical teratoid/rhabdoid tumor 1095 1.81707721911593E-14
pediatric high grade glioma 2712 7.98349597962162E-9
pilocytic astrocytoma 3086 1.21080452385965E-8
tuberculosis 1563 1.15838208633449E-6
sonic hedgehog group medulloblastoma 1482 1.51456755013797E-6
osteosarcoma 7933 1.57933502780109E-6
glioblastoma 5572 2.11651617113243E-5
Pick disease 1893 2.80773331248801E-4
ductal carcinoma in situ 1745 0.00274388145833881
subependymal giant cell astrocytoma 2287 0.00355770299899716
medulloblastoma, large-cell 6234 0.00404144369490683
primitive neuroectodermal tumor 3031 0.00414245835186233
invasive ductal carcinoma 2950 0.00439251973665528
astrocytic glioma 2241 0.0065894370779791
ependymoma 2514 0.0141779297175067
oligodendroglioma 2849 0.0298941587611931
Disease Target Count Z-score Confidence
Amelogenesis imperfecta 26 5.396 2.7
Epilepsy 346 0.0 4.0
Disease Target Count Z-score Confidence
Complex partial epilepsy 3 5.624 2.8
3-methylglutaconic aciduria 29 3.412 1.7
Disease Target Count
Kohlschutter-Tonz Syndrome 1
Disease Target Count
Kohlschuetter-Toenz syndrome 1

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

Synonym

Accession Q9GZN7 Q6IA00
Symbols KTZS

Gene

  Ortholog (12)

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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