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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ATP13A4
ATPase 13A4
Chromosome 3 · 3q29
NCBI Gene: 84239Ensembl: ENSG00000127249.16HGNC: HGNC:25422UniProt: B3KU47
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
polyamine transmembrane transportrecycling endosome membranepolyamine transmembrane transporter activityearly endosome membraneprostatitisdenturesmajor depressive disorderage-related macular degeneration
✦AI Summary

ATP13A4 is a P5-type transport ATPase that functions as a polyamine transporter involved in cellular calcium homeostasis and neurodevelopment 12. The protein localizes to the endoplasmic reticulum and endosomal compartments, where it undergoes autophosphorylation characteristic of P-type ATPases 32. ATP13A4 mediates polyamine transmembrane transport, with overexpression significantly increasing polyamine uptake in breast cancer cells 1. The protein also regulates intracellular calcium levels, as overexpression causes increased cellular calcium concentrations 2. ATP13A4 shows tissue-specific expression, being particularly abundant in brain and epithelial glandular cells, with high expression during embryonic neurogenesis (days 15-17) 32. Disease relevance includes association with autism spectrum disorders, where an E646D mutation disrupts calcium regulation function 2. The gene is also linked to language delays when disrupted by chr3 inversions and shows increased expression in schizophrenia brain tissue 45. In cancer, ATP13A4 upregulation drives elevated polyamine transport systems, making it a potential therapeutic target for polyamine transport inhibitors 1.

Sources cited
1
ATP13A4 functions as a polyamine transporter and is upregulated in breast cancer cells
PMID: 37371498
2
ATP13A4 localizes to ER, regulates calcium levels, and E646D mutation disrupts function in autism
PMID: 19731010
3
ATP13A4 is a P5B-type ATPase that undergoes autophosphorylation and localizes to endosomal system
PMID: 29505581
4
ATP13A4 disruption is associated with language delay
PMID: 15925480
5
ATP13A4 expression is increased in schizophrenia brain tissue
PMID: 30501451
6
ATP13A4 shows tissue-specific expression in brain and stomach
PMID: 15381061
Disease Associationsⓘ20
prostatitisOpen Targets
0.33Weak
denturesOpen Targets
0.25Weak
major depressive disorderOpen Targets
0.14Weak
age-related macular degenerationOpen Targets
0.08Suggestive
X-linked retinal dysplasiaOpen Targets
0.08Suggestive
dental cariesOpen Targets
0.08Suggestive
smoking initiationOpen Targets
0.07Suggestive
hyperpituitarismOpen Targets
0.07Suggestive
joint diseaseOpen Targets
0.07Suggestive
retinitis pigmentosaOpen Targets
0.07Suggestive
gastrointestinal diseaseOpen Targets
0.07Suggestive
choroidal dystrophy, central areolar, 1Open Targets
0.06Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
asthmaOpen Targets
0.06Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.06Suggestive
Stargardt diseaseOpen Targets
0.06Suggestive
reticular dystrophy of the retinal pigment epitheliumOpen Targets
0.06Suggestive
age related macular degeneration 11Open Targets
0.06Suggestive
age related macular degeneration 2Open Targets
0.06Suggestive
age related macular degeneration 6Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ATP13A5Shared pathway70%ATP13A3Shared pathway60%ATP13A1Shared pathway44%TMEM63AShared pathway40%ANO10Shared pathway40%ZACNShared pathway33%
Tissue Expression6 tissues
Lung
100%
Brain
44%
Bone Marrow
9%
Liver
4%
Ovary
2%
Heart
1%
Gene Interaction Network
Click a node to explore
ATP13A4ATP13A5ATP13A3ATP13A1TMEM63AANO10ZACN
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q4VNC1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.90LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.76 [0.65–0.90]
RankingsWhere ATP13A4 stands among ~20K protein-coding genes
  • #16,994of 20,598
    Most Researched10
  • #8,070of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedATP13A4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The rise and fall of novel renal magnesium transporters.
PMID: 29412701
Am J Physiol Renal Physiol · 2018
1.00
2
Parkinson disease related ATP13A2 evolved early in animal evolution.
PMID: 29505581
PLoS One · 2018
0.90
3
ATP13A4 Upregulation Drives the Elevated Polyamine Transport System in the Breast Cancer Cell Line MCF7.
PMID: 37371498
Biomolecules · 2023
0.80
4
mRNA expression of the P5 ATPase ATP13A4 is increased in Broca's area from subjects with schizophrenia.
PMID: 30501451
World J Biol Psychiatry · 2020
0.70
5
Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay.
PMID: 15925480
Genomics · 2005
0.60