Property Summary

NCBI Gene PubMed Count 22
PubMed Score 21.06
PubTator Score 23.79

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count P-value
ependymoma 2514 7.77067032321572E-14
ovarian cancer 8492 1.19125399956413E-9
atypical teratoid / rhabdoid tumor 4369 6.48516143127021E-9
pediatric high grade glioma 2712 9.15611727084936E-7
medulloblastoma 1524 3.83010227180805E-6
pilocytic astrocytoma 3086 4.32184850474784E-6
glioblastoma 5572 6.525035672507E-6
primitive neuroectodermal tumor 3031 1.66042297130951E-4
medulloblastoma, large-cell 6234 6.84838976927804E-4
Disease Target Count Z-score Confidence
Restless legs syndrome 28 7.152 3.6
Disease Target Count Z-score Confidence
Gilles de la Tourette syndrome 47 3.794 1.9
Disease Target Count
Restless legs syndrome 6 1

Expression

  Differential Expression (9)

Disease log2 FC p
ependymoma -1.400 0.000
glioblastoma -1.800 0.000
medulloblastoma -1.400 0.000
atypical teratoid / rhabdoid tumor -1.800 0.000
medulloblastoma, large-cell -2.000 0.001
primitive neuroectodermal tumor -1.600 0.000
pediatric high grade glioma -1.500 0.000
pilocytic astrocytoma -1.300 0.000
ovarian cancer 1.700 0.000

Synonym

Accession Q96Q07 Q494V9 Q494W1 Q96M00
Symbols dJ322I12.1

Gene

  Ortholog (13)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG Inparanoid
Chicken OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid
Zebrafish OMA Inparanoid
C. elegans OMA EggNOG Inparanoid
Fruitfly OMA EggNOG Inparanoid

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)
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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.
More...