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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ATP11A
ATPase phospholipid transporting 11A
Chromosome 13 Β· 13q34
NCBI Gene: 23250Ensembl: ENSG00000068650.19HGNC: HGNC:13552UniProt: E9PEJ6
45PubMed Papers
23Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
plasma membranerecycling endosomelysosomal membranephosphatidylethanolamine flippase activityhearing loss, autosomal dominant 84autosomal dominant nonsyndromic hearing lossleukodystrophy, hypomyelinating, 24auditory neuropathy, autosomal dominant 2
✦AI Summary

ATP11A encodes a catalytic component of a P4-ATPase flippase complex that maintains plasma membrane phospholipid asymmetry by transporting phosphatidylserine (PS) and phosphatidylethanolamine (PE) from the outer to inner membrane leaflet 1. This flippase activity is essential for preventing inappropriate exposure of PS 'eat-me' signals on cell surfaces, which would otherwise trigger phagocytic clearance 23. ATP11A plays crucial roles in multiple developmental processes, including muscle cell morphogenesis where it mediates PS enrichment to trigger calcium signaling and myotube formation 4, and syncytiotrophoblast formation during placental development 4. The protein is highly expressed in auditory nerve fibers and cochlear neurons 1. Disease-causing variants in ATP11A lead to autosomal dominant auditory neuropathy type 2 (AUNA2), where deletions disrupting flippase activity cause progressive hearing loss 51. Additional pathogenic missense variants are associated with refractory focal epilepsy and hypomyelinating leukodystrophy, with phenotype severity correlating with variant location relative to transmembrane domains 6. Reduced ATP11A expression has also been implicated in critical COVID-19 outcomes, suggesting broader roles in immune regulation 7.

Sources cited
1
ATP11A encodes a P4-ATPase flippase that translocates phospholipids and causes AUNA2 when mutated
PMID: 36300302
2
Flippases like ATP11A maintain PS at inner membrane leaflet to prevent inappropriate 'eat-me' signaling
PMID: 32853880
3
ATP11A prevents inappropriate PS exposure and is involved in neuronal autophagy pathways
PMID: 39664587
4
ATP11A is essential for muscle morphogenesis and syncytiotrophoblast formation in placental development
PMID: 35476530
5
ATP11A variants cause autosomal dominant hearing loss (DFNA33/AUNA2)
PMID: 35278131
6
De novo ATP11A missense variants are associated with refractory focal epilepsy and hypomyelinating leukodystrophy
PMID: 40185629
7
Reduced ATP11A expression is associated with critical COVID-19 outcomes
PMID: 35255492
Disease Associationsβ“˜23
hearing loss, autosomal dominant 84Open Targets
0.55Moderate
autosomal dominant nonsyndromic hearing lossOpen Targets
0.47Moderate
leukodystrophy, hypomyelinating, 24Open Targets
0.43Moderate
auditory neuropathy, autosomal dominant 2Open Targets
0.33Weak
COVID-19Open Targets
0.30Weak
Methicillin-Resistant Staphylococcus Aureus InfectionOpen Targets
0.29Weak
preeclampsiaOpen Targets
0.29Weak
skin cancerOpen Targets
0.27Weak
cutaneous melanomaOpen Targets
0.26Weak
temporomandibular joint disorderOpen Targets
0.26Weak
exostosisOpen Targets
0.25Weak
ventricular fibrillationOpen Targets
0.24Weak
male reproductive organ cancerOpen Targets
0.24Weak
basal cell carcinomaOpen Targets
0.23Weak
idiopathic pulmonary fibrosisOpen Targets
0.23Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.21Weak
skin neoplasmOpen Targets
0.21Weak
actinic keratosisOpen Targets
0.20Weak
Abnormality of the gastrointestinal tractOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
Auditory neuropathy, autosomal dominant 2UniProt
Deafness, autosomal dominant, 84UniProt
Leukodystrophy, hypomyelinating, 24UniProt
Pathogenic Variants6
NM_015205.3(ATP11A):c.334-8T>GPathogenic
Hearing loss, autosomal dominant 84
β˜…β˜†β˜†β˜†2026
NM_015205.3(ATP11A):c.3044_3045del (p.Thr1015fs)Likely pathogenic
Hearing loss, autosomal dominant 84
β˜…β˜†β˜†β˜†2023β†’ Residue 1015
NM_015205.3(ATP11A):c.11G>A (p.Ser4Asn)Pathogenic
Hearing loss, autosomal dominant 84
β˜†β˜†β˜†β˜†2023β†’ Residue 4
NM_015205.3(ATP11A):c.3328-494_*1355delinsAAPathogenic
Auditory neuropathy, autosomal dominant 2
β˜†β˜†β˜†β˜†2023
NM_015205.3(ATP11A):c.250C>G (p.Gln84Glu)Pathogenic
Leukodystrophy, hypomyelinating, 24
β˜†β˜†β˜†β˜†2023β†’ Residue 84
NM_015205.3(ATP11A):c.3322_3327+2dupPathogenic
Autosomal dominant nonsyndromic hearing loss 33|Hearing loss, autosomal dominant 84
β˜†β˜†β˜†β˜†2022
View on ClinVar β†—
Related Genes
CDC50AProtein interaction100%CDC50BProtein interaction92%ATP8A1Protein interaction76%ATP10BProtein interaction75%ATP11BProtein interaction73%ATP10AProtein interaction73%
Tissue Expression6 tissues
Lung
100%
Heart
82%
Bone Marrow
78%
Brain
65%
Liver
33%
Ovary
21%
Gene Interaction Network
Click a node to explore
ATP11ACDC50ACDC50BATP8A1ATP10BATP11BATP10A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P98196
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.60Moderately Constrained
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.48 [0.39–0.60]
RankingsWhere ATP11A stands among ~20K protein-coding genes
  • #9,414of 20,598
    Most Researched45
  • #3,404of 5,498
    Most Pathogenic Variants6
  • #4,070of 17,882
    Most Constrained (LOEUF)0.60 Β· top quartile
Genes detectedATP11A
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Whole-genome sequencing reveals host factors underlying critical COVID-19.
PMID: 35255492
Nature Β· 2022
1.00
2
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
PMID: 35278131
Hum Genet Β· 2022
0.90
3
Inhibition of miR-4763-3p expression activates the PI3K/mTOR/Bcl2 autophagy signaling pathway to ameliorate cognitive decline.
PMID: 39664587
Int J Biol Sci Β· 2024
0.80
4
Sensing and clearance of apoptotic cells.
PMID: 32853880
Curr Opin Immunol Β· 2021
0.70
5
ATP11A promotes EMT by regulating Numb PRR
PMID: 35345586
PeerJ Β· 2022
0.60