Property Summary

NCBI Gene PubMed Count 22
PubMed Score 21.06
PubTator Score 23.79

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
ependymoma -1.400 7.8e-14
glioblastoma -1.800 6.5e-06
medulloblastoma -1.400 3.8e-06
atypical teratoid / rhabdoid tumor -1.800 6.5e-09
medulloblastoma, large-cell -2.000 6.8e-04
primitive neuroectodermal tumor -1.600 1.7e-04
pediatric high grade glioma -1.500 9.2e-07
pilocytic astrocytoma -1.300 4.3e-06
ovarian cancer 1.700 1.2e-09

Synonym

Accession Q96Q07 Q494V9 Q494W1 Q96M00
Symbols dJ322I12.1

Gene

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

Gene RIF (19)

PMID Text
26498236 Our findings confirm an association between the BTBD9, MEIS1, and MAP2K5/SKOR1 SNPs and periodic limb movements of sleep in an elderly cohort.
26298793 The GLO1 variations were not the source of association of the BTBD9 locus with restless legs syndrome.
25142570 Periodic leg movements during sleep are associated with polymorphisms in BTBD9, TOX3/BC034767, MEIS1, MAP2K5/SKOR1, and PTPRD
24993631 The results of this study BTBD9 suggest that the examined BTBD9 variants are not associated with GTS risk, but may be associated with comorbidity and tic severity in the Polish population.
23361623 The BTBD9 gene is associated with symptoms of antipsychotic-induced restless legs syndrome in schizophrenia.
22914617 There was a statistically significant association between the variant rs9296249 of the BTBD9 gene and the TS phenotype
22486183 A frequent polymorphism in BTBD9 was significantly associated with serum ferritin and low iron stores in blood donors.
21925394 Variants in MEIS1, BTBD9, and MAP2K5/SKOR1 confer a significant risk of restless legs syndrome in a United States population.
21572129 This is the first demonstration of a genetic influence on RLS in ESRD patients with BTBD9 being significantly associated.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19822783 BTBD9 that predispose to restless legs syndrome and periodic limb movements during sleep are also associated with Tourette syndrome
19822783 Observational study of gene-disease association. (HuGE Navigator)
19279021 Among the known loci, BTBD9 seems to be the most consistent in its effect on RLS across populations.
19279021 Observational study of gene-disease association. (HuGE Navigator)
19223043 Observational study of gene-disease association. (HuGE Navigator)
18363860 BTBD9, was recently linked to restless legs syndrome, periodic limb movements and iron status in humans
17637780 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
17634447 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
17634447 We have discovered a variant associated with susceptibility to periodic limb movements in sleep.

AA Sequence

MSNSHPLRPFTAVGEIDHVHILSEHIGALLIGEEYGDVTFVVEKKRFPAHRVILAARCQYFRALLYGGMR      1 - 70
ESQPEAEIPLQDTTAEAFTMLLKYIYTGRATLTDEKEEVLLDFLSLAHKYGFPELEDSTSEYLCTILNIQ     71 - 140
NVCMTFDVASLYSLPKLTCMCCMFMDRNAQEVLSSEGFLSLSKTALLNIVLRDSFAAPEKDIFLALLNWC    141 - 210
KHNSKENHAEIMQAVRLPLMSLTELLNVVRPSGLLSPDAILDAIKVRSESRDMDLNYRGMLIPEENIATM    211 - 280
KYGAQVVKGELKSALLDGDTQNYDLDHGFSRHPIDDDCRSGIEIKLGQPSIINHIRILLWDRDSRSYSYF    281 - 350
IEVSMDELDWVRVIDHSQYLCRSWQKLYFPARVCRYIRIVGTHNTVNKIFHIVAFECMFTNKTFTLEKGL    351 - 420
IVPMENVATIADCASVIEGVSRSRNALLNGDTKNYDWDSGYTCHQLGSGAIVVQLAQPYMIGSIRLLLWD    421 - 490
CDDRSYSYYVEVSTNQQQWTMVADRTKVSCKSWQSVTFERQPASFIRIVGTHNTANEVFHCVHFECPEQQ    491 - 560
SSQKEENSEESGTGDTSLAGQQLDSHALRAPSGSSLPSSPGSNSRSPNRQHQ                      561 - 612
//

Text Mined References (26)

PMID Year Title
26498236 2015 Genetic associations of periodic limb movements of sleep in the elderly for the MrOS sleep study.
26298793 2015 Analysis of functional GLO1 variants in the BTBD9 locus and restless legs syndrome.
25353672 2015 Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21.
25142570 2014 Periodic leg movements during sleep are associated with polymorphisms in BTBD9, TOX3/BC034767, MEIS1, MAP2K5/SKOR1, and PTPRD.
24993631 2014 The BTBD9 gene polymorphisms in Polish patients with Gilles de la Tourette syndrome.
23361623 2013 The BTBD9 gene may be associated with antipsychotic-induced restless legs syndrome in schizophrenia.
22914617 2012 Analysis of the BTBD9 and HTR2C variants in Chinese Han patients with Tourette syndrome.
22658601 2012 Sleep fragmentation and motor restlessness in a Drosophila model of Restless Legs Syndrome.
22486183 2012 A genetic risk factor for low serum ferritin levels in Danish blood donors.
21925394 2011 Association studies of variants in MEIS1, BTBD9, and MAP2K5/SKOR1 with restless legs syndrome in a US population.
21779176 2011 Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.
21572129 2011 MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19822783 2009 Association of intronic variants of the BTBD9 gene with Tourette syndrome.
19279021 2009 Replication of restless legs syndrome loci in three European populations.
19223043 2009 Exploring the genetic link between RLS and ADHD.
18363860 2008 Of mice and men, periodic limb movements and iron: how the human genome informs the mouse genome.
18216367 2008 A genetic risk factor for periodic limb movements in sleep.
17637780 2007 Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.
17634447 2007 A genetic risk factor for periodic limb movements in sleep.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
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.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11572484 2001 Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins.