ENSA
Endosulfine Alpha
Gene Information Card
| Symbol | ENSA |
|---|---|
| Full Name | Endosulfine Alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 2029 ncbi.nlm.nih.gov/gene/2029 |
| Ensembl ID | ENSG00000143420 |
| UniProt ID | O43768 |
| OMIM ID | 603061 |
| HGNC ID | 3360 |
| Aliases | ARPP-19e, ENSA-1, ENSA-2 |
Description
The ENSA gene encodes endosulfine alpha, a protein that functions as an endogenous inhibitor of protein phosphatase 2A (PP2A). It plays a critical role in regulating the cell cycle, particularly the G2/M transition, by inhibiting PP2A-B55 complexes. ENSA is also involved in insulin secretion and glucose homeostasis. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Dysregulation of ENSA expression alters PP2A activity, promoting uncontrolled cell proliferation. | COSMIC; literature |
| Diabetes mellitus type 2 | ENSA modulates insulin secretion via PP2A inhibition in pancreatic beta cells. | OMIM; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Pancreas | 8.3 | Medium |
| Testis | 6.1 | Low |
| Heart | 5.4 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 10.8 | Medium expression |
| K562 | 7.5 | Low expression |
| MCF7 | 6.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; functional impact unknown |
| c.214C>T (p.Arg72Trp) | missense | <0.01% | Reported in COSMIC; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in ENSA are predicted to reduce PP2A inhibition, potentially impairing cell cycle progression.
Gain of Function (GOF)
Gain-of-function mutations have not been characterized; overexpression may enhance PP2A inhibition and promote proliferation.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein phosphatase inhibitor activity | • cell cycle |
| • G2/M transition of mitotic cell cycle | • insulin secretion |
| • cytoplasm | • nucleus |
Pathways
• PP2A-mediated regulation of cell cycle
• Insulin signaling pathway
Protein Summary
Endosulfine alpha is a 121-amino acid protein (UniProt O43768) that belongs to the endosulfine family. It contains a conserved PP2A-binding domain and is phosphorylated by Greatwall kinase, enabling it to inhibit PP2A-B55 complexes. This inhibition is essential for mitotic entry and progression. The protein is widely expressed, with highest levels in brain and pancreas.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ENSA Knockout HEK293 Cell Line | EDJ-KQ50256 | Human | 2029 | Details Get a Quote |
| ENSA Knockout HeLa Cell Line | EDJ-KQ53162 | Human | 2029 | Details Get a Quote |
| ENSA Knockout A-549 Cell Line | EDJ-KQ61638 | Human | 2029 | Details Get a Quote |
| ENSA Knockout HCT 116 Cell Line | EDJ-KQ70121 | Human | 2029 | Details Get a Quote |
