AEN (Apoptosis Enhancing Nuclease)
AEN gene: function, expression, and role in cancer and apoptosis
Gene Information Card
| Symbol | AEN |
|---|---|
| Full Name | Apoptosis Enhancing Nuclease |
| Gene Type | Protein coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 64782 ncbi.nlm.nih.gov/gene/64782 |
| Ensembl ID | ENSG00000137809 |
| UniProt ID | Q8WUQ7 |
| OMIM ID | 610177 |
| HGNC ID | 25722 |
| Aliases | ISG20L1, FLJ10173, MGC13170 |
Description
AEN (Apoptosis Enhancing Nuclease) is a protein-coding gene that encodes a 3'-5' exonuclease involved in the DNA damage response and apoptosis. It is a direct transcriptional target of p53 and plays a role in promoting cell death by degrading DNA during apoptosis. The protein localizes to the nucleus and is induced by genotoxic stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | AEN is a p53 target; loss of p53 function reduces AEN expression, impairing apoptosis | PMID: 19056892 |
| Colorectal cancer | AEN expression is downregulated in tumors; associated with poor prognosis | PMID: 25944712 |
| Lung cancer | AEN overexpression sensitizes cells to chemotherapy-induced apoptosis | PMID: 23361013 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 5.2 | Low |
| Lymph node | 4.8 | Low |
| Spleen | 3.9 | Low |
| Testis | 2.1 | Not detected |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 6.1 | Leukemia cell line |
| HeLa | 4.5 | Cervical cancer cell line |
| A549 | 3.8 | Lung cancer cell line |
| MCF7 | 2.9 | Breast cancer cell line |
| HEK293 | 1.5 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Nonsense | <0.01% | Predicted loss of function |
| c.200_201del | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations are predicted to cause loss of nuclease activity, impairing apoptosis.
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)
| • 3'-5' exonuclease activity | • nuclease activity |
| • nucleic acid binding | • apoptotic process |
| • DNA damage response | • nucleus |
Pathways
• p53 signaling pathway
• Apoptosis
Protein Summary
The AEN protein is a 3'-5' exonuclease that degrades single-stranded DNA and RNA. It is induced by p53 in response to DNA damage and localizes to the nucleus. The protein promotes apoptosis by cleaving DNA during the cell death process. It contains an exonuclease domain and is involved in the cellular response to genotoxic stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AEN Knockout HEK293 Cell Line | EDJ-KQ12299 | Human | 64782 | Details Get a Quote |
| AEN Knockout A-549 Cell Line | EDJ-KQ41113 | Human | 64782 | Details Get a Quote |
| AEN Knockout HCT 116 Cell Line | EDJ-KQ41114 | Human | 64782 | Details Get a Quote |
| AEN Knockout HeLa Cell Line | EDJ-KQ41115 | Human | 64782 | Details Get a Quote |
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