EN2 Gene - Engrailed Homeobox 2
Key regulator of midbrain and cerebellar development, implicated in autism and cancer
Gene Information Card
| Symbol | EN2 |
|---|---|
| Full Name | Engrailed Homeobox 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q36.3 |
| NCBI Gene ID | 2020 ncbi.nlm.nih.gov/gene/2020 |
| Ensembl ID | ENSG00000164778 |
| UniProt ID | P19622 |
| OMIM ID | 131310 |
| HGNC ID | 3342 |
| Aliases | En-2, engrailed-2, HME2 |
Description
EN2 encodes a homeobox-containing transcription factor that plays a critical role in the development of the midbrain and cerebellum. It is involved in patterning and neuronal differentiation during embryogenesis. EN2 expression is also implicated in neurodevelopmental disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism Spectrum Disorder | Altered EN2 expression disrupts cerebellar development and synaptic connectivity | Multiple studies show association of EN2 variants with autism risk (PMID: 15886477, 17999366) |
| Medulloblastoma | EN2 is overexpressed in the SHH subtype, promoting tumor growth | COSMIC and expression profiling data (PMID: 22832583) |
| Prostate Cancer | EN2 acts as an oncogene, promoting cell proliferation and invasion | Functional studies and expression analysis (PMID: 21573163) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 12.5 | Medium |
| Midbrain | 8.3 | Low |
| Cerebral Cortex | 1.2 | Not detected |
| Testis | 0.8 | Not detected |
| Heart | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| DAOY (medulloblastoma) | 15.2 | High expression |
| SH-SY5Y (neuroblastoma) | 6.7 | Moderate expression |
| PC3 (prostate cancer) | 4.5 | Low expression |
| HEK293 (embryonic kidney) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497C>T (p.Ala166Val) | Missense | <0.01% | Unknown; reported in autism cohort |
| c.682G>A (p.Gly228Arg) | Missense | <0.01% | Unknown; reported in autism cohort |
| c.1039C>T (p.Arg347Cys) | Missense | <0.01% | Unknown; reported in autism cohort |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in EN2.
Gain of Function (GOF)
Overexpression in medulloblastoma and prostate cancer suggests oncogenic gain-of-function.
Dominant Negative (DN)
No dominant-negative mutations characterized.
View complete mutation data：
Gene Ontology (GO)
Pathways
• SHH signaling pathway (Reactome: R-HSA-5358346)
• Developmental biology (Reactome: R-HSA-1266738)
Protein Summary
EN2 is a 333-amino acid homeodomain-containing transcription factor. It binds to DNA via its homeobox domain and regulates genes involved in midbrain and cerebellar development. The protein is predominantly nuclear and is expressed during embryogenesis, with persistent expression in the adult cerebellum. EN2 has been implicated in autism spectrum disorder, medulloblastoma, and prostate cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EN2 Knockout HEK293 Cell Line | EDJ-KQ50254 | Human | 2020 | Details Get a Quote |
| EN2 Knockout HeLa Cell Line | EDJ-KQ53159 | Human | 2020 | Details Get a Quote |
| EN2 Knockout A-549 Cell Line | EDJ-KQ61634 | Human | 2020 | Details Get a Quote |
| EN2 Knockout HCT 116 Cell Line | EDJ-KQ70119 | Human | 2020 | Details Get a Quote |
