BBX (BBX high mobility group box domain containing)

2014-11-01  

Identity

HGNC
BBX
LOCATION
3q13.12
LOCUSID
56987
ALIAS
ARTC1,HBP2,HSPC339,MDS001
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 56987
HGNC: 14422
Ensembl: ENSG00000114439

Variants:

dbSNP: 56987
ClinVar: 56987
TCGA: ENSG00000114439
COSMIC: BBX

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114439ENST00000325805Q8WY36
ENSG00000114439ENST00000402163C9J8D0
ENSG00000114439ENST00000402543C9JA69
ENSG00000114439ENST00000406780Q8WY36
ENSG00000114439ENST00000413213C9JIZ2
ENSG00000114439ENST00000415149Q8WY36
ENSG00000114439ENST00000416476Q8WY36
ENSG00000114439ENST00000425868C9J067
ENSG00000114439ENST00000427402C9JYU6
ENSG00000114439ENST00000429270C9JSH4
ENSG00000114439ENST00000431630C9IYG9
ENSG00000114439ENST00000443253H7C1U1
ENSG00000114439ENST00000449213C9K0D1
ENSG00000114439ENST00000449271C9J0J4
ENSG00000114439ENST00000449335C9JNU3
ENSG00000114439ENST00000454540C9JD74
ENSG00000114439ENST00000456419C9JZA0
ENSG00000114439ENST00000456817C9IYS9
ENSG00000114439ENST00000457496C9JC04
ENSG00000114439ENST00000458347H7C1Q0
ENSG00000114439ENST00000458458C9JE62

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.94
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.94

Citation

Dessen P

BBX (BBX high mobility group box domain containing)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60721/new-content/