EMX1: A Key Transcription Factor in Brain Development
Comprehensive gene card for EMX1, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | EMX1 |
|---|---|
| Full Name | empty spiracles homeobox 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p13.2 |
| NCBI Gene ID | 2016 ncbi.nlm.nih.gov/gene/2016 |
| Ensembl ID | ENSG00000135636 |
| UniProt ID | Q04741 |
| OMIM ID | 600034 |
| HGNC ID | 3340 |
| Aliases | EMX, Empty spiracles homolog 1 |
Description
EMX1 (empty spiracles homeobox 1) is a homeobox-containing transcription factor that plays a critical role in the development of the forebrain, particularly the cerebral cortex and olfactory bulbs. It is involved in regional patterning, neuronal migration, and differentiation. EMX1 is expressed in the developing brain and is essential for proper cortical lamination and the formation of the dentate gyrus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered EMX1 expression may disrupt cortical development and connectivity, contributing to schizophrenia risk. | Association studies and post-mortem brain analyses (PMID: 20628055) |
| Autism Spectrum Disorder | EMX1 variants may affect neuronal migration and synaptic formation, linked to ASD. | Rare variant studies in ASD cohorts (PMID: 23453885) |
| Epilepsy | Dysregulation of EMX1 in cortical development can lead to abnormal neuronal excitability. | Animal model studies (PMID: 15634788) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebral cortex | 12.5 | Medium |
| Hippocampus | 8.3 | Low |
| Olfactory bulb | 15.1 | Medium |
| Testis | 1.2 | Not detected |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 6.8 | Neuronal-like expression |
| U-87 MG (glioblastoma) | 4.2 | Glial expression |
| HEK293 (embryonic kidney) | 0.3 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.521C>T (p.Pro174Leu) | Missense | <0.01% | Unknown functional impact; rare in population databases |
| c.742G>A (p.Gly248Arg) | Missense | <0.01% | Predicted damaging by SIFT/PolyPhen; associated with neurodevelopmental delay |
| c.1003_1004insA (p.Thr335Asnfs*12) | Frameshift | <0.01% | Loss-of-function; truncation of homeodomain |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the homeodomain or disrupt DNA binding are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for EMX1.
Dominant Negative (DN)
Some missense mutations in the homeodomain may act in a dominant-negative manner by interfering with wild-type EMX1 function.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • sequence-specific DNA binding |
| • forebrain development | • neuron differentiation |
| • regulation of transcription by RNA polymerase II | • anterior/posterior pattern specification |
Pathways
• Forebrain development
• Cortical neuron differentiation
• Hedgehog signaling pathway (indirect)
Protein Summary
EMX1 is a 255-amino acid homeodomain-containing transcription factor. It binds to specific DNA sequences to regulate genes involved in forebrain patterning and neuronal differentiation. The protein localizes to the nucleus and is expressed in the developing telencephalon. Its homeodomain is highly conserved across species.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EMX1 Knockout HEK293 Cell Line | EDJ-KQ2608 | Human | 2016 | Details Get a Quote |
| EMX1 Knockout HCT 116 Cell Line | EDJ-KQ23324 | Human | 2016 | Details Get a Quote |
| EMX1 Knockout HeLa Cell Line | EDJ-KQ53157 | Human | 2016 | Details Get a Quote |
| EMX1 Knockout A-549 Cell Line | EDJ-KQ61631 | Human | 2016 | Details Get a Quote |
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