ATP13A3 (ATPase 13A3)

2014-11-01  

Identity

HGNC
ATP13A3
LOCATION
3q29
LOCUSID
79572
ALIAS
AFURS1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79572
MIM: 610232
HGNC: 24113
Ensembl: ENSG00000133657

Variants:

dbSNP: 79572
ClinVar: 79572
TCGA: ENSG00000133657
COSMIC: ATP13A3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000133657ENST00000256031Q9H7F0
ENSG00000133657ENST00000429136H7C1U7
ENSG00000133657ENST00000439040Q9H7F0
ENSG00000133657ENST00000446356C9JAP7
ENSG00000133657ENST00000457986C9J7Z7
ENSG00000133657ENST00000619199A0A087WYY3
ENSG00000133657ENST00000642744A0A2R8YDN7
ENSG00000133657ENST00000645319A0A2R8Y635
ENSG00000133657ENST00000645538Q9H7F0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
296509612018Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.55
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11

Citation

Dessen P

ATP13A3 (ATPase 13A3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60611/atp13a3