ATP10A (ATPase phospholipid transporting 10A (putative))

2011-10-01 Affiliation

Identity

HGNC

ATP10A

LOCATION

15q12

LOCUSID

57194

ALIAS

ATP10C,ATPVA,ATPVC

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 57194
MIM: 605855
HGNC: 13542
Ensembl: ENSG00000206190

Variants:

dbSNP: 57194
ClinVar: 57194
TCGA: ENSG00000206190
COSMIC: ATP10A

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000206190	ENST00000356865	O60312
ENSG00000206190	ENST00000389967	O60312
ENSG00000206190	ENST00000555756	H0YJI4
ENSG00000206190	ENST00000555815	G3V261
ENSG00000206190	ENST00000619904	O60312

Expression (GTEx)

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

Pathway	Source	External ID
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
Ion channel transport	REACTOME	R-HSA-983712
Ion transport by P-type ATPases	REACTOME	R-HSA-936837

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA10066	duloxetine	Chemical	ClinicalAnnotation, VariantAnnotation	associated		PD	29407288
PA447321	Depressive Disorder, Major	Disease	ClinicalAnnotation, VariantAnnotation	associated		PD	29407288

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
21209057	2011	A dual epigenomic approach for the search of obesity biomarkers: DNA methylation in relation to diet-induced weight loss.	59
19086053	2009	Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.	34
11353404	2001	The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression.	24
25947375	2015	Phospholipid Flippase ATP10A Translocates Phosphatidylcholine and Is Involved in Plasma Membrane Dynamics.	21
18726118	2008	Gender influences monoallelic expression of ATP10A in human brain.	16
20609483	2011	Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A.	12
20198315	2010	Association of genetic variants with hemorrhagic stroke in Japanese individuals.	11
18186074	2008	Association study of the 15q11-q13 maternal expression domain in Japanese autistic patients.	3
18186074	2008	Association study of the 15q11-q13 maternal expression domain in Japanese autistic patients.	3

Citation

Dessen P

ATP10A (ATPase phospholipid transporting 10A (putative))

Atlas Genet Cytogenet Oncol Haematol. 2011-10-01

Online version: http://atlasgeneticsoncology.org/gene/52396/atp10a