DTNA (dystrobrevin alpha)

2014-11-01  

Identity

HGNC
DTNA
LOCATION
18q12.1
LOCUSID
1837
ALIAS
D18S892E,DRP3,DTN,DTN-A,LVNC1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1837
MIM: 601239
HGNC: 3057
Ensembl: ENSG00000134769

Variants:

dbSNP: 1837
ClinVar: 1837
TCGA: ENSG00000134769
COSMIC: DTNA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134769ENST00000269192Q9Y4J8
ENSG00000134769ENST00000283365Q9Y4J8
ENSG00000134769ENST00000315456Q9Y4J8
ENSG00000134769ENST00000348997Q9Y4J8
ENSG00000134769ENST00000348997A0A024RC32
ENSG00000134769ENST00000399113Q9Y4J8
ENSG00000134769ENST00000399121Q9Y4J8
ENSG00000134769ENST00000444659Q9Y4J8
ENSG00000134769ENST00000554864Q9Y4J8
ENSG00000134769ENST00000556414Q9Y4J8
ENSG00000134769ENST00000587723K7ERH7
ENSG00000134769ENST00000588125K7ENJ7
ENSG00000134769ENST00000588684K7EIV1
ENSG00000134769ENST00000588949K7ESB2
ENSG00000134769ENST00000590412K7EJ84
ENSG00000134769ENST00000590598K7ERZ2
ENSG00000134769ENST00000590727K7ER73
ENSG00000134769ENST00000590831M0R0C4
ENSG00000134769ENST00000591182Q9Y4J8
ENSG00000134769ENST00000591816K7EMN1
ENSG00000134769ENST00000595022Q9Y4J8
ENSG00000134769ENST00000596745Q9Y4J8
ENSG00000134769ENST00000597599Q9Y4J8
ENSG00000134769ENST00000597674Q9Y4J8
ENSG00000134769ENST00000598142Q9Y4J8
ENSG00000134769ENST00000598334Q9Y4J8
ENSG00000134769ENST00000598774Q9Y4J8
ENSG00000134769ENST00000599844M0R021
ENSG00000134769ENST00000601125M0QZ28

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447199Bipolar DisorderDiseaseLiterature, MultilinkAnnotationassociated24718920

References

Pubmed IDYearTitleCitations
367999922023Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.0
367999922023Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.0
351486852022Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation.6
351486852022Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation.6
327378012021Oncogenic microRNA-301b regulates tumor repressor dystrobrevin alpha to facilitate cell growth, invasion and migration in esophageal cancer.5
327378012021Oncogenic microRNA-301b regulates tumor repressor dystrobrevin alpha to facilitate cell growth, invasion and migration in esophageal cancer.5
326194952020DTNA promotes HBV-induced hepatocellular carcinoma progression by activating STAT3 and regulating TGFβ1 and P53 signaling.6
326194952020DTNA promotes HBV-induced hepatocellular carcinoma progression by activating STAT3 and regulating TGFβ1 and P53 signaling.6
295084832018Barth syndrome associated with triple mutation.0
295084832018Barth syndrome associated with triple mutation.0
253050782015Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere's disease.47
259590292015Localization of α-Dystrobrevin in Cajal Bodies and Nucleoli: A New Role for α-Dystrobrevin in the Structure/Stability of the Nucleolus.2
253050782015Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere's disease.47
259590292015Localization of α-Dystrobrevin in Cajal Bodies and Nucleoli: A New Role for α-Dystrobrevin in the Structure/Stability of the Nucleolus.2
240141712013Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathology.7

Citation

Dessen P

DTNA (dystrobrevin alpha)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62664/dtna-(dystrobrevin-alpha)