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
333675292021Molecular analysis of homeostatic iron regulator, transmembrane protease serine-6, and BTB domain-containing protein-9 variants and iron parameters in blood donors.1
333675292021Molecular analysis of homeostatic iron regulator, transmembrane protease serine-6, and BTB domain-containing protein-9 variants and iron parameters in blood donors.1
323276432020The CRL3(BTBD9) E3 ubiquitin ligase complex targets TNFAIP1 for degradation to suppress cancer cell migration.13
323276432020The CRL3(BTBD9) E3 ubiquitin ligase complex targets TNFAIP1 for degradation to suppress cancer cell migration.13
283292902017Association of BTBD9 and MAP2K5/SKOR1 With Restless Legs Syndrome in Chinese Population.13
283292902017Association of BTBD9 and MAP2K5/SKOR1 With Restless Legs Syndrome in Chinese Population.13
262987932015Analysis of functional GLO1 variants in the BTBD9 locus and restless legs syndrome.9
264982362015Genetic associations of periodic limb movements of sleep in the elderly for the MrOS sleep study.5
262987932015Analysis of functional GLO1 variants in the BTBD9 locus and restless legs syndrome.9
264982362015Genetic associations of periodic limb movements of sleep in the elderly for the MrOS sleep study.5
249936312014The BTBD9 gene polymorphisms in Polish patients with Gilles de la Tourette syndrome.5
251425702014Periodic leg movements during sleep are associated with polymorphisms in BTBD9, TOX3/BC034767, MEIS1, MAP2K5/SKOR1, and PTPRD.48
249936312014The BTBD9 gene polymorphisms in Polish patients with Gilles de la Tourette syndrome.5
251425702014Periodic leg movements during sleep are associated with polymorphisms in BTBD9, TOX3/BC034767, MEIS1, MAP2K5/SKOR1, and PTPRD.48
233616232013The BTBD9 gene may be associated with antipsychotic-induced restless legs syndrome in schizophrenia.4

Citation

Dessen P

BTBD9 (BTB domain containing 9)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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