INPP4A
Inositol Polyphosphate-4-Phosphatase Type I A
Gene Information Card
| Symbol | INPP4A |
|---|---|
| Full Name | Inositol Polyphosphate-4-Phosphatase Type I A |
| Gene Type | Protein coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 3631 ncbi.nlm.nih.gov/gene/3631 |
| Ensembl ID | ENSG00000115252 |
| UniProt ID | Q96PE3 |
| OMIM ID | 600916 |
| HGNC ID | 6074 |
| Aliases | INPP4, INPP4A-001, INPP4A-002 |
Description
INPP4A encodes an inositol polyphosphate-4-phosphatase that dephosphorylates phosphatidylinositol 3,4-bisphosphate (PI(3,4)P2) to phosphatidylinositol 3-phosphate (PI3P), thereby regulating phosphoinositide signaling pathways involved in cell growth, survival, and vesicular trafficking. The enzyme is critical for neuronal development and function, and its dysregulation is linked to neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with epilepsy and intellectual disability | Loss-of-function mutations impair PI(3,4)P2 hydrolysis, disrupting synaptic signaling and neuronal excitability | ClinVar, OMIM |
| Breast cancer | Altered INPP4A expression affects PI3K/AKT pathway activity, promoting tumorigenesis | COSMIC, NCBI |
| Glioblastoma | Reduced INPP4A activity leads to accumulation of PI(3,4)P2, enhancing cell proliferation | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.3 | Medium |
| Lung | 5.1 | Medium |
| Liver | 2.4 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 9.8 | Moderate expression |
| MCF7 (breast cancer) | 6.5 | Moderate expression |
| A549 (lung cancer) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335Ter) | Nonsense | Rare | Loss of function; truncated protein |
| c.1426G>A (p.Gly476Arg) | Missense | 0.01% | Reduced phosphatase activity |
| c.1789_1790del (p.Leu597fs) | Frameshift | Rare | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or abolish catalytic activity, leading to PI(3,4)P2 accumulation and disrupted signaling.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol-3 | • 4-bisphosphate 4-phosphatase activity |
| • phosphatidylinositol phosphate phosphatase activity | • metal ion binding |
| • cytoplasm | • early endosome |
| • plasma membrane | • phosphatidylinositol dephosphorylation |
| • phosphatidylinositol 3-kinase signaling |
Pathways
• Phosphatidylinositol phosphate metabolism
• PI3K/AKT signaling
• Endocytosis
Protein Summary
INPP4A is a 977-amino acid protein containing a phosphatase domain that specifically hydrolyzes the 4-phosphate of PI(3,4)P2. It localizes to early endosomes and the plasma membrane, regulating endocytic trafficking and cell survival. The protein is highly expressed in the brain, where it modulates synaptic plasticity and neuronal excitability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INPP4A Knockout HEK293 Cell Line | EDJ-KQ1659 | Human | 3631 | Details Get a Quote |
| INPP4A Knockout HCT 116 Cell Line | EDJ-KQ20066 | Human | 3631 | Details Get a Quote |
| INPP4A Knockout A-549 Cell Line | EDJ-KQ21416 | Human | 3631 | Details Get a Quote |
| INPP4A Knockout HeLa Cell Line | EDJ-KQ21418 | Human | 3631 | Details Get a Quote |
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