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 6.6e-03
ependymoma -2.000 1.4e-02
oligodendroglioma -1.300 3.0e-02
glioblastoma -1.800 2.1e-05
osteosarcoma -2.267 1.6e-06
atypical teratoid/rhabdoid tumor -2.300 1.8e-14
medulloblastoma, large-cell -1.100 4.0e-03
primitive neuroectodermal tumor -1.100 4.1e-03
tuberculosis 1.800 1.2e-06
pediatric high grade glioma -2.100 8.0e-09
pilocytic astrocytoma -1.400 1.2e-08
sonic hedgehog group medulloblastoma -1.700 1.5e-06
subependymal giant cell astrocytoma -2.539 3.6e-03
Pick disease -1.200 2.8e-04
ductal carcinoma in situ 1.100 2.7e-03
invasive ductal carcinoma 1.500 4.4e-03

Synonym

Accession Q9GZN7 Q6IA00
Symbols KTZS

Gene

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

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).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11230166 2001 Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
11076863 2000 DNA cloning using in vitro site-specific recombination.