ATP8B4
ATPase Phospholipid Transporting 8B4 (Putative)
Gene Information Card
| Symbol | ATP8B4 |
|---|---|
| Full Name | ATPase phospholipid transporting 8B4 (putative) |
| Gene Type | Protein coding |
| Chromosomal Location | 15q21.2 |
| NCBI Gene ID | 79895 ncbi.nlm.nih.gov/gene/79895 |
| Ensembl ID | ENSG00000104067 |
| UniProt ID | Q8TF62 |
| OMIM ID | 609123 |
| HGNC ID | 13533 |
| Aliases | ATPID, P4-ATPase, ATP8B4 |
Description
ATP8B4 encodes a member of the P4-ATPase subfamily of P-type ATPases, which are thought to function as phospholipid flippases, translocating phospholipids from the exoplasmic to the cytoplasmic leaflet of cellular membranes. This gene is predominantly expressed in the brain and testis, and its product may play a role in membrane trafficking and lipid asymmetry. Mutations in ATP8B4 have been associated with intellectual disability and other neurological phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual developmental disorder with microcephaly and pontocerebellar hypoplasia (IDDMPH) | Loss-of-function mutations in ATP8B4 impair phospholipid flipping, disrupting membrane homeostasis in neural cells. | ClinVar, OMIM |
| Autism spectrum disorder (ASD) | Rare missense variants may alter ATP8B4 function, contributing to synaptic dysfunction. | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Lung | 3.1 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal model |
| HEK293 (embryonic kidney) | 2.4 | Low expression |
| HepG2 (hepatocellular carcinoma) | 1.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.567G>A (p.Trp189*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.890A>G (p.Tyr297Cys) | Missense | Very rare | Likely damaging; alters conserved residue |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to truncated, non-functional protein.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects reported.
View complete mutation data：
Gene Ontology (GO)
| • ATPase activity | • phospholipid translocation |
| • membrane | • integral component of membrane |
| • ATP binding | • magnesium ion binding |
Pathways
• Phospholipid transport
• Membrane trafficking
Protein Summary
ATP8B4 is a putative P4-ATPase phospholipid flippase that localizes to cellular membranes. It is predicted to catalyze the ATP-dependent transport of phospholipids from the outer to the inner leaflet, maintaining membrane asymmetry. The protein is highly expressed in brain and testis, and its dysfunction is linked to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP8B4 Knockout HEK293 Cell Line | EDJ-KQ12485 | Human | 79895 | Details Get a Quote |
| ATP8B4 Knockout HeLa Cell Line | EDJ-KQ41443 | Human | 79895 | Details Get a Quote |
| ATP8B4 Knockout A-549 Cell Line | EDJ-KQ65762 | Human | 79895 | Details Get a Quote |
| ATP8B4 Knockout HCT 116 Cell Line | EDJ-KQ74186 | Human | 79895 | Details Get a Quote |
