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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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EMX2
empty spiracles homeobox 2
Chromosome 10 · 10q26.11
NCBI Gene: 2018Ensembl: ENSG00000170370.12HGNC: HGNC:3341UniProt: Q04743
56PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingprotein bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificschizencephalycongenital hypogonadotropic hypogonadismneurotic disorderautosomal dominant compelling helio-ophthalmic outburst syndrome
✦AI Summary

EMX2 is a homeodomain-containing transcription factor with dual roles in neurodevelopment and cancer regulation. During central nervous system development, EMX2 acts as a dorsal cortical marker expressed in neuroblasts and postmitotic Cajal-Retzius cells, controlling neuroblast proliferation, migration, and differentiation 1. Its graded distribution along the antero-posterior and medial-lateral cortical axes patterns the forebrain and specifies cortical territories and area identity, functioning cooperatively with Otx2 and Pax6 1. EMX2 also participates in gonadal differentiation as a non-SRY-linked gene controlling testis development 2. In cancer biology, EMX2 functions as a tumor suppressor, frequently downregulated through epigenetic silencing via promoter methylation. In colorectal cancer, EMX2 downregulation associates with distant metastasis and reduced survival, with knockdown increasing tumor cell migration 3. Similarly, in lung cancer and esophageal adenocarcinoma, EMX2 restoration suppresses cell proliferation, invasion, and epithelial-mesenchymal transition while inhibiting WNT and AKT/mTOR signaling pathways [PMID:20697358; 44]. In malignant pleural mesothelioma, low EMX2 expression predicts poor progression-free survival 5. An antisense transcript, EMX2OS, displays coordinated expression with EMX2, suggesting regulatory function 6.

Sources cited
1
EMX2 controls neuroblast proliferation, migration, differentiation, and cortical area specification through graded distribution along cortical axes; cooperates with Otx2 and Pax6
PMID: 12095673
2
EMX2 downregulation in colorectal cancer associates with distant metastasis and reduced survival; EMX2 knockdown increases and overexpression decreases tumor cell migration
PMID: 28830374
3
EMX2 is a non-SRY-linked gene involved in testis development and gonadal differentiation
PMID: 12834017
4
EMX2 is epigenetically silenced via promoter methylation in esophageal adenocarcinoma; restoration suppresses EMT, inhibits AKT/mTOR/S6K signaling, and enhances cisplatin sensitivity
PMID: 31432154
5
Low EMX2 expression predicts poor progression-free survival in malignant pleural mesothelioma and serves as prognostic/predictive biomarker
PMID: 25023662
6
EMX2 downregulation through promoter methylation occurs in lung cancer; restoration suppresses proliferation and invasion, inhibits WNT signaling, and sensitizes cells to cisplatin
PMID: 20697358
7
An antisense transcript EMX2OS overlaps with and displays coordinated expression with EMX2, suggesting regulatory function
PMID: 12573261
Disease Associationsⓘ21
schizencephalyOpen Targets
0.69Moderate
congenital hypogonadotropic hypogonadismOpen Targets
0.44Moderate
neurotic disorderOpen Targets
0.34Weak
autosomal dominant compelling helio-ophthalmic outburst syndromeOpen Targets
0.32Weak
DermatochalasisOpen Targets
0.32Weak
Inguinal herniaOpen Targets
0.30Weak
Ascher syndromeOpen Targets
0.28Weak
lobe attachmentOpen Targets
0.28Weak
cartilage diseaseOpen Targets
0.26Weak
stomach diseaseOpen Targets
0.26Weak
complex regional pain syndromeOpen Targets
0.21Weak
corneal ulcerOpen Targets
0.21Weak
congenital anomaly of cardiovascular systemOpen Targets
0.21Weak
goutOpen Targets
0.20Weak
Alzheimer diseaseOpen Targets
0.19Weak
genetic disorderOpen Targets
0.19Weak
HypercholesterolemiaOpen Targets
0.15Weak
basal cell carcinomaOpen Targets
0.14Weak
adolescent idiopathic scoliosisOpen Targets
0.14Weak
HerniaOpen Targets
0.13Weak
SchizencephalyUniProt
Pathogenic Variants6
NM_004098.4(EMX2):c.595A>C (p.Lys199Gln)Likely pathogenic
Congenital hypogonadotropic hypogonadism
★☆☆☆2025→ Residue 199
NM_004098.4(EMX2):c.332C>A (p.Ser111Ter)Pathogenic
Congenital hypogonadotropic hypogonadism
★☆☆☆2025→ Residue 111
NM_004098.4(EMX2):c.407G>T (p.Gly136Val)Pathogenic
Schizencephaly
☆☆☆☆1997→ Residue 136
NM_004098.4(EMX2):c.575_576insA (p.Ser192fs)Pathogenic
Schizencephaly
☆☆☆☆1996→ Residue 192
NM_004098.4(EMX2):c.407-1G>APathogenic
Schizencephaly
☆☆☆☆1996
NM_004098.4(EMX2):c.407-4G>TPathogenic
Schizencephaly
☆☆☆☆1996
View on ClinVar ↗
Related Genes
EMX1Shared pathway100%NOTOShared pathway100%GSX1Shared pathway100%VAX1Shared pathway100%PAX2Protein interaction79%SP8Protein interaction74%
Tissue Expression6 tissues
Brain
100%
Ovary
50%
Heart
1%
Liver
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
EMX2EMX1NOTOGSX1VAX1PAX2SP8
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q04743
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.50Moderately Constrained
pLIⓘ
0.98Intolerant
Observed/Expected LoF0.25 [0.14–0.50]
RankingsWhere EMX2 stands among ~20K protein-coding genes
  • #8,062of 20,598
    Most Researched56
  • #3,389of 5,498
    Most Pathogenic Variants6
  • #2,986of 17,882
    Most Constrained (LOEUF)0.50 · top quartile
Genes detectedEMX2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Emx2: a gene responsible for cortical development, regionalization and area specification.
PMID: 12095673
Gene · 2002
1.00
2
EMX2 gene expression predicts liver metastasis and survival in colorectal cancer.
PMID: 28830374
BMC Cancer · 2017
0.90
3
Vertebrate homeobox genes.
PMID: 7896134
Genetica · 1994
0.80
4
Sexual differentiation.
PMID: 12834017
J Endocrinol Invest · 2003
0.70
5
EMX2 is epigenetically silenced and suppresses epithelial‑mesenchymal transition in human esophageal adenocarcinoma.
PMID: 31432154
Oncol Rep · 2019
0.60