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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
126045892003Tyrosine-phosphorylated and nonphosphorylated isoforms of alpha-dystrobrevin: roles in skeletal muscle and its neuromuscular and myotendinous junctions.38
253050782015Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere's disease.26
211158372010Alpha-dystrobrevin-1 recruits alpha-catulin to the alpha1D-adrenergic receptor/dystrophin-associated protein complex signalosome.18
182995192008Aberrantly spliced alpha-dystrobrevin alters alpha-syntrophin binding in myotonic dystrophy type 1.13
158352712005The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders.11
128998722003Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy.10
158346862005Association of alpha-dystrobrevin with reorganizing tight junctions.7
199615692009Profound human/mouse differences in alpha-dystrobrevin isoforms: a novel syntrophin-binding site and promoter missing in mouse and rat.6
201119092011α-Dystrobrevin distribution and association with other proteins in human promyelocytic NB4 cells treated for granulocytic differentiation.3

Citation

Dessen P

DTNA (dystrobrevin alpha)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62664/dtna