EMX2 Gene
Empty Spiracles Homeobox 2: A Key Regulator of Brain Development and Organogenesis
Gene Information Card
| Symbol | EMX2 |
|---|---|
| Full Name | Empty Spiracles Homeobox 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q26.11 |
| NCBI Gene ID | 2018 ncbi.nlm.nih.gov/gene/2018 |
| Ensembl ID | ENSG00000170370 |
| UniProt ID | Q04743 |
| OMIM ID | 600035 |
| HGNC ID | 3341 |
| Aliases | EMX2_HUMAN, empty spiracles-like 2, EMX-2 |
Description
EMX2 (Empty Spiracles Homeobox 2) is a homeobox-containing transcription factor essential for embryonic development, particularly of the forebrain, olfactory system, and urogenital tract. It regulates cell proliferation, migration, and differentiation during cortical neurogenesis. Mutations in EMX2 are associated with schizencephaly and other cortical malformations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizencephaly | Loss-of-function mutations impair forebrain patterning, leading to clefts in the cerebral hemispheres. | ClinVar, OMIM |
| Urogenital abnormalities | EMX2 disruption affects Wolffian duct development, causing renal and genital defects. | OMIM, NCBI |
| Cortical malformations | Altered EMX2 expression disrupts neuronal migration and cortical lamination. | NCBI, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Kidney | 3.2 | Low |
| Testis | 2.1 | Low |
| Lung | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.4 | Neuroblastoma cell line |
| HEK293 | 1.2 | Low expression |
| HepG2 | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.544C>T (p.Arg182*) | Nonsense | Rare | Loss of function; truncation of homeodomain |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein synthesis |
| c.656G>A (p.Arg219Gln) | Missense | Rare | Altered DNA binding; reduced transcriptional activity |
Mutation functional classification
Loss of Function (LOF)
Most EMX2 mutations are loss-of-function, leading to haploinsufficiency or truncated proteins that disrupt forebrain development.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not documented; likely not a dominant-negative mechanism.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity (GO:0003700) | • Sequence-specific DNA binding (GO:0043565) |
| • Forebrain development (GO:0030900) | • Regulation of neurogenesis (GO:0050767) |
| • Urogenital system development (GO:0001655) |
Pathways
• Wnt signaling pathway (involved in forebrain patterning)
• Notch signaling (regulation of neural progenitor cells)
• Retinoic acid signaling (anterior-posterior patterning)
Protein Summary
EMX2 is a 252-amino acid homeodomain-containing transcription factor that binds DNA via a helix-turn-helix motif. It is expressed in the developing forebrain, olfactory epithelium, and urogenital ridge. The protein regulates target genes involved in cell cycle exit, migration, and differentiation of neural progenitors. Its homeodomain is critical for sequence-specific DNA binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EMX2 Knockout HEK293 Cell Line | EDJ-KQ4528 | Human | 2018 | Details Get a Quote |
| EMX2 Knockout HeLa Cell Line | EDJ-KQ53158 | Human | 2018 | Details Get a Quote |
| EMX2 Knockout A-549 Cell Line | EDJ-KQ61632 | Human | 2018 | Details Get a Quote |
| EMX2 Knockout HCT 116 Cell Line | EDJ-KQ70117 | Human | 2018 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
