DTNB (dystrobrevin beta)

2014-08-01  

Identity

HGNC
DTNB
LOCATION
2p23.3
LOCUSID
1838
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1838
MIM: 602415
HGNC: 3058
Ensembl: ENSG00000138101

Variants:

dbSNP: 1838
ClinVar: 1838
TCGA: ENSG00000138101
COSMIC: DTNB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138101ENST00000288642E7EVB6
ENSG00000138101ENST00000303659F8W9U0
ENSG00000138101ENST00000349996E9PE76
ENSG00000138101ENST00000356599F8WD22
ENSG00000138101ENST00000398951E7ES64
ENSG00000138101ENST00000404103O60941
ENSG00000138101ENST00000405222O60941
ENSG00000138101ENST00000406818O60941
ENSG00000138101ENST00000407038O60941
ENSG00000138101ENST00000407186E9PEY4
ENSG00000138101ENST00000407661O60941
ENSG00000138101ENST00000496972O60941

Expression (GTEx)

0
10
20
30
40
50
60
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
352466342022Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer's disease-associated genes: DTNB and DLG2.9
352466342022Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer's disease-associated genes: DTNB and DLG2.9
272234702016Identification of β-Dystrobrevin as a Direct Target of miR-143: Involvement in Early Stages of Neural Differentiation.4
272234702016Identification of β-Dystrobrevin as a Direct Target of miR-143: Involvement in Early Stages of Neural Differentiation.4
205304872010The interaction with HMG20a/b proteins suggests a potential role for beta-dystrobrevin in neuronal differentiation.17
205304872010The interaction with HMG20a/b proteins suggests a potential role for beta-dystrobrevin in neuronal differentiation.17
164483872006Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein.39
164483872006Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein.39

Citation

Dessen P

DTNB (dystrobrevin beta)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54268/img/js/welcome