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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EMB
embigin
Chromosome 5 · 5q11.1
NCBI Gene: 133418Ensembl: ENSG00000170571.13HGNC: HGNC:30465UniProt: Q6PCB8
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcell-cell adhesion mediator activityhomophilic cell-cell adhesionaxon guidanceschizophreniadiabetes mellitusAbnormality of refractionrisk-taking behaviour
✦AI Summary

Based on the provided abstracts, there is insufficient information to provide a comprehensive gene function summary for EMB (embigin). The abstracts primarily discuss EMB as an abbreviation for endomyocardial biopsy rather than the embigin gene 123. However, limited functional evidence is available: EMB appears to play a role in enteric nervous system (ENS) development by regulating proliferation and migration of enteric neural crest cells through PI3K-AKT signaling pathway activation 4. Mechanistically, EMB recruits the phosphatase complex PP2A to the cellular membrane, reducing cytoplasmic dephosphorylation activity and promoting PI3K pathway activation 4. In disease contexts, EMB variants may contribute to Hirschsprung's disease pathology 4, and a common variant (rs3933097) in the 3'-UTR shows association with schizophrenia risk 5. Additionally, EMB is highly expressed in glioblastoma multiforme and associated with poor prognosis, potentially driving tumor progression through epithelial-mesenchymal transition and metabolic reprogramming 6. The available evidence is limited and primarily focused on specific disease contexts rather than comprehensive gene function.

Sources cited
1
EMB regulates ENS development through PI3K-AKT signaling and PP2A recruitment
PMID: 40999499
2
EMB variant rs3933097 associates with schizophrenia risk
PMID: 32213169
3
EMB is highly expressed in glioblastoma and associated with poor prognosis
PMID: 40038742
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
schizophreniaOpen Targets
0.40Weak
diabetes mellitusOpen Targets
0.32Weak
Abnormality of refractionOpen Targets
0.27Weak
risk-taking behaviourOpen Targets
0.26Weak
estrogen-receptor positive breast cancerOpen Targets
0.26Weak
type 1 diabetes mellitusOpen Targets
0.26Weak
type 2 diabetes mellitusOpen Targets
0.19Weak
optic atrophyOpen Targets
0.15Weak
cholelithiasisOpen Targets
0.14Weak
male infertilityOpen Targets
0.14Weak
kidney cancerOpen Targets
0.12Weak
Alzheimer diseaseOpen Targets
0.10Weak
neoplasmOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.08Suggestive
cancerOpen Targets
0.07Suggestive
glioblastoma multiformeOpen Targets
0.06Suggestive
infectionOpen Targets
0.04Suggestive
IrritabilityOpen Targets
0.04Suggestive
systemic lupus erythematosusOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC16A7Protein interaction99%SLC16A1Protein interaction97%SLC16A3Protein interaction93%SLC16A8Protein interaction85%FN1Protein interaction72%CNTN6Shared pathway67%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
7%
Heart
4%
Brain
1%
Liver
1%
Ovary
1%
Gene Interaction Network
Click a node to explore
EMBSLC16A7SLC16A1SLC16A3SLC16A8FN1CNTN6
PROTEIN STRUCTURE
Preparing viewer…
PDB7YR5 · 3.63 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.89LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.56 [0.36–0.89]
RankingsWhere EMB stands among ~20K protein-coding genes
  • #14,691of 20,598
    Most Researched18
  • #7,967of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedEMB
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Endomyocardial biopsy.
PMID: 41489096
EuroIntervention · 2026
1.00
2
Rare and common variants analysis of the EMB gene in patients with schizophrenia.
PMID: 32213169
BMC Psychiatry · 2020
0.90
3
Cardiomyopathies and Adrenal Diseases.
PMID: 32709015
Int J Mol Sci · 2020
0.80
4
EMB is essential for enteric nervous system development mediated by PI3K signaling.
PMID: 40999499
Genome Med · 2025
0.70
5
First-in-human phase I study of EMB-02, a bispecific antibody targeting PD-1 and LAG-3 in patients with advanced solid tumors.
PMID: 40234667
Br J Cancer · 2025
0.60