BEND3 (BEN domain containing 3)

2014-11-01  

Identity

HGNC
BEND3
LOCATION
6q21
LOCUSID
57673
ALIAS
KIAA1553
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57673
MIM: 616374
HGNC: 23040
Ensembl: ENSG00000178409

Variants:

dbSNP: 57673
ClinVar: 57673
TCGA: ENSG00000178409
COSMIC: BEND3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178409ENST00000369042Q5T5X7
ENSG00000178409ENST00000429433Q5T5X7

Expression (GTEx)

0
1
2
3
4
5
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
219148182011A BEN-domain-containing protein associates with heterochromatin and represses transcription.22
261009092015BEND3 represses rDNA transcription by stabilizing a NoRC component via USP21 deubiquitinase.9
265075812015BEND3 mediates transcriptional repression and heterochromatin organization.2
274879302016Characterization of the NTPR and BD1 interacting domains of the human PICH-BEND3 complex.1
256008042015Basic amino acid residues located in the N-terminal region of BEND3 are essential for its nuclear localization.0
264812362016BEND3 is involved in the human-specific repression of calreticulin: Implication for the evolution of higher brain functions in human.0
289776712017A novel TPR-BEN domain interaction mediates PICH-BEND3 association.0

Citation

Dessen P

BEND3 (BEN domain containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60735/bend3-(ben-domain-containing-3)