ATP8B2
ATPase phospholipid transporting 8B2
Gene Information Card
| Symbol | ATP8B2 |
|---|---|
| Full Name | ATPase phospholipid transporting 8B2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 57198 ncbi.nlm.nih.gov/gene/57198 |
| Ensembl ID | ENSG00000143515 |
| UniProt ID | P98198 |
| OMIM ID | 605869 |
| HGNC ID | 13534 |
| Aliases | ATPID, ATPID2, P4-ATPase, ATP8B2 |
Description
ATP8B2 encodes a member of the P-type ATPase family, specifically a P4-ATPase (flippase) that catalyzes the translocation of phospholipids from the exoplasmic to the cytoplasmic leaflet of cellular membranes. This activity is essential for maintaining membrane asymmetry and is implicated in vesicle formation, lipid metabolism, and bile acid homeostasis. The protein is widely expressed, with highest levels in the small intestine, kidney, and liver.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intrahepatic cholestasis (possible) | Impaired phospholipid flipping may disrupt bile canalicular membrane asymmetry, leading to cholestasis. | Limited; inferred from family member ATP8B1 (PFIC1) and functional studies. |
| Hearing loss (possible) | Defective phospholipid transport in hair cell membranes may affect auditory function. | Weak; based on expression in cochlea and homology to ATP8B1. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 28.5 | High |
| Kidney | 22.3 | High |
| Liver | 18.7 | Medium |
| Testis | 15.2 | Medium |
| Brain | 8.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 20.4 | Liver cancer cell line |
| Caco-2 | 35.1 | Colorectal adenocarcinoma |
| HEK 293 | 12.6 | Embryonic kidney |
| K562 | 5.3 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.0002 (gnomAD) | Unknown; predicted damaging by SIFT/PolyPhen |
| c.567G>A (p.Val189Met) | Missense | 0.0001 (gnomAD) | Unknown; likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ATP8B2.
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-translocating ATPase activity (GO:0004012) | • plasma membrane (GO:0005886) |
| • phospholipid transport (GO:0015914) | • phospholipid translocation (GO:0045332) |
| • integral component of membrane (GO:0016021) |
Pathways
• REACT:111045 (Phospholipid translocation)
• KEGG:map04976 (Bile secretion)
Protein Summary
ATP8B2 is a 1251-amino acid P4-ATPase that functions as a phospholipid flippase. It contains ten transmembrane domains, a large cytoplasmic loop with ATP-binding and phosphorylation sites, and a C-terminal regulatory domain. The protein is localized to the plasma membrane and endosomal compartments, where it maintains lipid asymmetry. Its activity is coupled to the beta-subunit TMEM30A (CDC50A).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP8B2 Knockout HEK293 Cell Line | EDJ-KQ12484 | Human | 57198 | Details Get a Quote |
| ATP8B2 Knockout A-549 Cell Line | EDJ-KQ40155 | Human | 57198 | Details Get a Quote |
| ATP8B2 Knockout HCT 116 Cell Line | EDJ-KQ41441 | Human | 57198 | Details Get a Quote |
| ATP8B2 Knockout HeLa Cell Line | EDJ-KQ41442 | Human | 57198 | Details Get a Quote |
