ATP8A2 Gene - ATPase Phospholipid Transporting 8A2
P4-ATPase flippase involved in aminophospholipid translocation and neurological function
Gene Information Card
| Symbol | ATP8A2 |
|---|---|
| Full Name | ATPase phospholipid transporting 8A2 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q12.13 |
| NCBI Gene ID | 51761 ncbi.nlm.nih.gov/gene/51761 |
| Ensembl ID | ENSG00000132932 |
| UniProt ID | Q9NTI2 |
| OMIM ID | 605870 |
| HGNC ID | 13555 |
| Aliases | ATPIB, ATPase class I type 8B member 2, ML-1 |
Description
ATP8A2 encodes a P4-ATPase (flippase) that catalyzes the ATP-dependent translocation of aminophospholipids such as phosphatidylserine and phosphatidylethanolamine from the exoplasmic to the cytosolic leaflet of cellular membranes. This activity is essential for maintaining membrane asymmetry, vesicle trafficking, and neuronal function. Mutations in ATP8A2 are associated with autosomal recessive cerebellar ataxia, intellectual disability, and developmental delay.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cerebellar ataxia, intellectual disability, and developmental delay (CAMRQ4) | Loss-of-function mutations impair phospholipid flipping, disrupting membrane asymmetry and neuronal signaling | Multiple families with homozygous or compound heterozygous mutations (ClinVar, OMIM) |
| Autism spectrum disorder (ASD) | Rare missense variants may alter flippase activity affecting synaptic membrane dynamics | Case-control studies (ClinVar) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Cerebellum | 15.1 | Medium |
| Cerebral cortex | 10.3 | Medium |
| Spinal cord | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 14.0 | Neuronal model |
| HeLa (cervical carcinoma) | 6.5 | Epithelial |
| HEK293 (embryonic kidney) | 8.1 | Common expression system |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2450G>A (p.Arg817Gln) | Missense | Rare | Reduced flippase activity; associated with CAMRQ4 |
| c.1885C>T (p.Arg629Trp) | Missense | Rare | Impaired ATP binding; loss of function |
| c.3022C>T (p.Arg1008*) | Nonsense | Rare | Premature truncation; complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Majority of pathogenic mutations (missense, nonsense, frameshift) lead to reduced or absent flippase activity, disrupting membrane asymmetry.
Gain of Function (GOF)
Not reported for ATP8A2.
Dominant Negative (DN)
Not reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • phospholipid translocation | • ATP hydrolysis activity |
| • aminophospholipid flippase activity | • membrane lipid asymmetry |
| • Golgi apparatus | • plasma membrane |
| • neuronal development |
Pathways
• Phospholipid translocation (P4-ATPase flippase pathway)
• Membrane lipid homeostasis
Protein Summary
ATP8A2 is a 130 kDa transmembrane P4-ATPase that forms a heterodimer with CDC50A/B to function as an aminophospholipid flippase. It is highly expressed in brain, particularly cerebellum, and is critical for maintaining phosphatidylserine asymmetry in neuronal membranes. Loss of function leads to cerebellar degeneration and intellectual disability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP8A2 Knockout HEK293 Cell Line | EDJ-KQ11216 | Human | 51761 | Details Get a Quote |
| ATP8A2 Knockout HeLa Cell Line | EDJ-KQ56358 | Human | 51761 | Details Get a Quote |
| ATP8A2 Knockout A-549 Cell Line | EDJ-KQ64848 | Human | 51761 | Details Get a Quote |
| ATP8A2 Knockout HCT 116 Cell Line | EDJ-KQ73292 | Human | 51761 | Details Get a Quote |
