ATP9B Gene - P4-ATPase Flippase Component
ATP9B: A Phospholipid Transporting P4-ATPase Involved in Vesicular Trafficking and Endosomal Recycling
Gene Information Card
| Symbol | ATP9B |
|---|---|
| Full Name | ATPase phospholipid transporting 9B (putative) |
| Gene Type | Protein coding |
| Chromosomal Location | 18q23 |
| NCBI Gene ID | 374868 ncbi.nlm.nih.gov/gene/374868 |
| Ensembl ID | ENSG00000134371 |
| UniProt ID | Q5T6W5 |
| OMIM ID | 615746 |
| HGNC ID | 13554 |
| Aliases | ATPIIB, ATP9B, KIAA0610 |
Description
ATP9B encodes a member of the P4-ATPase subfamily of P-type ATPases, which are putative phospholipid flippases that translocate phospholipids from the exoplasmic to the cytoplasmic leaflet of cellular membranes. This protein is involved in vesicular trafficking, endosomal recycling, and maintenance of membrane lipid asymmetry. ATP9B is widely expressed and has been implicated in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered ATP9B expression may disrupt phospholipid asymmetry and vesicle trafficking, promoting tumorigenesis and metastasis. | COSMIC; literature |
| Intellectual disability | Mutations in ATP9B have been associated with neurodevelopmental phenotypes, possibly due to defective endosomal recycling in neurons. | ClinVar; OMIM |
| Autism spectrum disorder | Rare variants in ATP9B have been reported in ASD cohorts, suggesting a role in synaptic vesicle cycling. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Liver | 8.7 | Low |
| Kidney | 7.3 | Low |
| Lung | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Moderate expression |
| HeLa | 12.8 | Moderate expression |
| SH-SY5Y | 18.1 | Higher expression in neuronal cells |
| HepG2 | 9.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2152C>T (p.Arg718Trp) | Missense | <0.01% | Unknown; reported in neurodevelopmental disorders |
| c.2870G>A (p.Arg957Gln) | Missense | <0.01% | Unknown; reported in autism spectrum disorder |
| c.1234delC (p.Leu412Trpfs*5) | Frameshift | <0.01% | Loss of function; associated with intellectual disability |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to cause loss of flippase activity and disrupt vesicular trafficking.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • phospholipid translocation | • ATP hydrolysis activity |
| • membrane lipid asymmetry | • endosomal recycling |
| • vesicle-mediated transport |
Pathways
• Phospholipid transport
• Endosomal recycling pathway
• Vesicular trafficking
Protein Summary
ATP9B is a putative P4-ATPase phospholipid flippase that localizes to endosomal and Golgi membranes. It catalyzes the ATP-dependent translocation of phospholipids, contributing to membrane curvature and vesicle formation. The protein is essential for proper endosomal recycling and neuronal function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP9B Knockout HEK293 Cell Line | EDJ-KQ7268 | Human | 374868 | Details Get a Quote |
| ATP9B Knockout A-549 Cell Line | EDJ-KQ32287 | Human | 374868 | Details Get a Quote |
| ATP9B Knockout HCT 116 Cell Line | EDJ-KQ32288 | Human | 374868 | Details Get a Quote |
| ATP9B Knockout HeLa Cell Line | EDJ-KQ32289 | Human | 374868 | Details Get a Quote |
