Property Summary

NCBI Gene PubMed Count 13
PubMed Score 1.88
PubTator Score 1.00

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
psoriasis 6685 4.24729179569851E-40
malignant mesothelioma 3163 4.15186274677096E-7
atypical teratoid / rhabdoid tumor 4369 6.67877081332245E-7
group 4 medulloblastoma 1875 1.32473062571217E-4
medulloblastoma, large-cell 6234 7.43456623433476E-4
Disease Target Count Z-score Confidence
Dystonia 77 3.672 1.8

Expression

  Differential Expression (5)

Disease log2 FC p
malignant mesothelioma -1.600 0.000
psoriasis -1.200 0.000
atypical teratoid / rhabdoid tumor -1.200 0.000
medulloblastoma, large-cell -1.100 0.001
group 4 medulloblastoma -1.200 0.000

Synonym

Accession Q8N5Z5 B0QYA9 B0QYB0 O95517
Symbols

Gene

PDB

5A6R  

  Ortholog (9)

Pathway (1)

Gene RIF (1)

PMID Text
25983243 A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.

AA Sequence

MQTPRPAMRMEAGEAAPPAGAGGRAAGGWGKWVRLNVGGTVFLTTRQTLCREQKSFLSRLCQGEELQSDR      1 - 70
DETGAYLIDRDPTYFGPILNFLRHGKLVLDKDMAEEGVLEEAEFYNIGPLIRIIKDRMEEKDYTVTQVPP     71 - 140
KHVYRVLQCQEEELTQMVSTMSDGWRFEQLVNIGSSYNYGSEDQAEFLCVVSKELHSTPNGLSSESSRKT    141 - 210
KSTEEQLEEQQQQEEEVEEVEVEQVQVEADAQEKAQSSQDPANLFSLPPLPPPPLPAGGSRPHPLRPEAE    211 - 280
LAVRASPRPLARPQSCHPCCYKPEAPGCEAPDHLQGLGVPI                                 281 - 321
//

Text Mined References (13)

PMID Year Title
25983243 2015 A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
25416956 2014 A proteome-scale map of the human interactome network.
25270598 2014 Ubiquitin-proteasome system controls ciliogenesis at the initial step of axoneme extension.
23455924 2013 A Y2H-seq approach defines the human protein methyltransferase interactome.
23222517 2012 Seventy-five genetic loci influencing the human red blood cell.
21044950 2011 Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
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