ATP13A2 (ATPase cation transporting 13A2)

2014-08-01  

Identity

HGNC
ATP13A2
LOCATION
1p36.13
LOCUSID
23400
ALIAS
CLN12,HSA9947,KRPPD,PARK9,SPG78
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23400
MIM: 610513
HGNC: 30213
Ensembl: ENSG00000159363

Variants:

dbSNP: 23400
ClinVar: 23400
TCGA: ENSG00000159363
COSMIC: ATP13A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159363ENST00000326735Q9NQ11
ENSG00000159363ENST00000341676Q9NQ11
ENSG00000159363ENST00000452699Q9NQ11
ENSG00000159363ENST00000502418H0Y953
ENSG00000159363ENST00000503552H0Y8I1
ENSG00000159363ENST00000506174H0Y9K4
ENSG00000159363ENST00000508222H0Y8V5
ENSG00000159363ENST00000509619H0Y8Z6
ENSG00000159363ENST00000510069H0Y9K0
ENSG00000159363ENST00000511957H0YAI7
ENSG00000159363ENST00000617114A0A087WUM9

Expression (GTEx)

0
50
100
150
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

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ion transport by P-type ATPasesREACTOMER-HSA-936837

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
370809602023Parkinson's disease-associated ATP13A2/PARK9 functions as a lysosomal H(+),K(+)-ATPase.13
372433742023ATP13A2 activates the pentose phosphate pathway to promote colorectal cancer growth though TFEB-PGD axis.4
370809602023Parkinson's disease-associated ATP13A2/PARK9 functions as a lysosomal H(+),K(+)-ATPase.13
372433742023ATP13A2 activates the pentose phosphate pathway to promote colorectal cancer growth though TFEB-PGD axis.4
364458732022ATP13A2 modifies mitochondrial localization of overexpressed TOM20 to autolysosomal pathway.1
364458732022ATP13A2 modifies mitochondrial localization of overexpressed TOM20 to autolysosomal pathway.1
330913952021Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay.4
337999822021ATP13A2 Regulates Cellular α-Synuclein Multimerization, Membrane Association, and Externalization.10
346957052021Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy.2
347150132021Structural basis of polyamine transport by human ATP13A2 (PARK9).12
347150142021Structural mechanisms for gating and ion selectivity of the human polyamine transporter ATP13A2.11
347980562021Cryo-EM reveals mechanistic insights into lipid-facilitated polyamine export by human ATP13A2.13
348276722021Sgt1 Regulates α-Synuclein Subcellular Localization and Expression of Parkinson's Disease Related Genes, PINK1 and PARK9.2
330913952021Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay.4
337999822021ATP13A2 Regulates Cellular α-Synuclein Multimerization, Membrane Association, and Externalization.10

Citation

Dessen P

ATP13A2 (ATPase cation transporting 13A2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54139