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Tdark BTB/POZ domain-containing protein KCTD18


 Comments

Property Summary

NCBI Gene PubMed Count 6
PubMed Score 0.67
PubTator Score 1.17

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (2)

Disease Target Count P-value
osteosarcoma 7933 7.9e-07
posterior fossa group B ependymoma 1530 5.2e-05
aldosterone-producing adenoma 664 2.7e-02
Disease Target Count Z-score Confidence
Restless legs syndrome 28 3.822 1.9

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma 1.244 7.9e-07
posterior fossa group B ependymoma 1.200 5.2e-05
aldosterone-producing adenoma -1.161 2.7e-02

Synonym

Accession Q6PI47 Q53T21 Q6NW26 Q6PCD8 Q8N9B7 Q96N73
Symbols 6530404F10Rik

Gene

KCTD18

PANTHER Protein Class (1)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (4)

 GO Process (1)

 Compartment GO Term (1)

 HCA RNA Cell Line (56)

See all...

Gene RIF (1)

PMID Text
23054586 A haplotype of 23 SNPs spanning 131.6 Kb shared by all affected members of 3 linked families with restless legs syndrome was identified. The shared candidate region covers 46.9 Kb over the potassium channel-related gene KCTD18 and exons 10-13 of SPATS2L.

AA Sequence 

MEGHKAEEEVLDVLRLNVGGCIYTARRESLCRFKDSMLASMFSGRFPLKTDESGACVIDRDGRLFKYLLD      1 - 70
YLHGEVQIPTDEQTRIALQEEADYFGIPYPYSLSDHLANEMETYSLRSNIELKKALTDFCDSYGLVCNKP     71 - 140
TVWVLHYLNTSGASCESRIIGVYATKTDGTDAIEKQLGGRIHSKGIFKREAGNNVQYIWSYYSVAELKKM    141 - 210
MDAFDAWEGKGVSYWRVPHELIECWTLEERPLLGSLRHMAPIRKRRLITFNEADESVNYKTGPKPVRFLG    211 - 280
PSTSTQIKVKNSASVTVSPASAIQTSAGATANRFQSGSRRKAAQRSAPSRATALVGTGAPGHPQASPGAA    281 - 350
SAENGGTHLPPAKVLLSDKKPTPQRVIKLKRTPLCATAPCLPSPTATRQANSLKPLPGEAARALGVRTEN    351 - 420
GKNKGN                                                                    421 - 426
//

Text Mined References (6)

PMID Year Title
23054586 2013 Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
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.