BTBD9 (BTB domain containing 9)

2014-11-01  

Identity

HGNC
BTBD9
LOCATION
6p21.2
LOCUSID
114781
ALIAS
dJ322I12.1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 114781
MIM: 611237
HGNC: 21228
Ensembl: ENSG00000183826

Variants:

dbSNP: 114781
ClinVar: 114781
TCGA: ENSG00000183826
COSMIC: BTBD9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183826ENST00000314100Q96Q07
ENSG00000183826ENST00000328403H7C5Z6
ENSG00000183826ENST00000403056A0A0A0MSF2
ENSG00000183826ENST00000408958A0A0A0MSF4
ENSG00000183826ENST00000419706Q96Q07
ENSG00000183826ENST00000481247Q96Q07
ENSG00000183826ENST00000497373C9J8E4
ENSG00000183826ENST00000498633C9JVC1
ENSG00000183826ENST00000649492Q96Q07

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
176377802007Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.156
176344472007A genetic risk factor for periodic limb movements in sleep.139
176344472007A genetic risk factor for periodic limb movements in sleep.139
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
251425702014Periodic leg movements during sleep are associated with polymorphisms in BTBD9, TOX3/BC034767, MEIS1, MAP2K5/SKOR1, and PTPRD.31
192790212009Replication of restless legs syndrome loci in three European populations.27
192790212009Replication of restless legs syndrome loci in three European populations.27
215721292011MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease.13
219253942011Association studies of variants in MEIS1, BTBD9, and MAP2K5/SKOR1 with restless legs syndrome in a US population.12
224861832012A genetic risk factor for low serum ferritin levels in Danish blood donors.9

Citation

Dessen P

BTBD9 (BTB domain containing 9)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60831/btbd9