Property Summary

NCBI Gene PubMed Count 13
PubMed Score 10.55
PubTator Score 9.30

Knowledge Summary


No data available


  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


Accession Q9GZN7 Q6IA00
Symbols KTZS


  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

Gene RIF (3)

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

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.