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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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EFNB3
ephrin B3
Chromosome 17 · 17p13.1
NCBI Gene: 1949Ensembl: ENSG00000108947.5HGNC: HGNC:3228UniProt: Q15768
57PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ephrin receptor signaling pathwayplasma membraneprotein bindingephrin receptor bindingobesityBenign familial choreanon-small cell lung carcinomaspastic paraplegia 72b, autosomal recessive
✦AI Summary

EFNB3 encodes ephrin-B3, a transmembrane ligand protein that plays critical roles in neural development and pathological processes. (a) Primary function: EFNB3 functions as a ligand for EPH family receptor tyrosine kinases, particularly mediating axon guidance and spinal midline barrier formation during neurodevelopment 1. It participates in cell-cell signaling within the nervous system and regulates synaptic development 2. (b) Mechanism: EFNB3 operates through EPH-ephrin signaling pathways, with recent evidence showing it controls astrocyte responses via EphB3 receptors in microglia-astrocyte interactions 2. The protein also regulates intestinal barrier function through ITGB4/AKT signaling and inflammatory responses via Gremlin-1/NF-κB pathways 3. (c) Disease relevance: EFNB3 expression patterns correlate with neuroblastoma prognosis, where high expression associates with favorable outcomes and low tumor stages 45. Loss-of-function variants cause congenital mirror movement disorders, as demonstrated in Weimaraner dogs with frameshift mutations 1. The gene also influences colitis severity and colorectal cancer development 3. (d) Clinical significance: EFNB3 serves as a prognostic biomarker in neuroblastoma and represents a potential therapeutic target for inflammatory bowel disease and associated cancers.

Sources cited
1
EFNB3 encodes ephrin-B3 involved in axon guidance and spinal midline barrier formation, with frameshift variants causing congenital mirror movement disorders
PMID: 40401490
2
EFNB3 mediates microglia-astrocyte interactions through EphB3 receptors in CNS inflammation
PMID: 33888612
3
High EFNB3 expression associates with low tumor stage and favorable neuroblastoma outcomes
PMID: 10389937
4
EFNB3 expression serves as a prognostic marker for neuroblastoma without MYCN amplification
PMID: 11107140
5
EFNB3 regulates colitis severity through ITGB4/AKT and Gremlin-1/NF-κB signaling pathways
PMID: 38142837
Disease Associationsⓘ20
obesityOpen Targets
0.16Weak
Benign familial choreaOpen Targets
0.10Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
spastic paraplegia 72b, autosomal recessiveOpen Targets
0.08Suggestive
Ataxia - oculomotor apraxia type 1Open Targets
0.08Suggestive
spinocerebellar ataxia type 23Open Targets
0.07Suggestive
Spinocerebellar ataxia type 40Open Targets
0.07Suggestive
Dysequilibrium syndromeOpen Targets
0.07Suggestive
Rare hereditary ataxiaOpen Targets
0.07Suggestive
spinocerebellar ataxia type 35Open Targets
0.06Suggestive
episodic ataxia type 5Open Targets
0.06Suggestive
hypertensionOpen Targets
0.06Suggestive
spinocerebellar ataxia, autosomal recessive 25Open Targets
0.06Suggestive
Spinocerebellar ataxia type 41Open Targets
0.06Suggestive
early-onset generalized limb-onset dystoniaOpen Targets
0.06Suggestive
Autosomal recessive spastic paraplegia type 72Open Targets
0.06Suggestive
hereditary spastic paraplegia 72Open Targets
0.06Suggestive
ataxia - deafness - intellectual disability syndromeOpen Targets
0.06Suggestive
Ataxia-deafness-intellectual disability syndromeOpen Targets
0.06Suggestive
Autosomal dominant striatal neurodegenerationOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EPHB1Protein interaction100%EPHB3Protein interaction100%EPHB6Protein interaction100%EPHB2Protein interaction100%EPHA4Protein interaction100%EPHA1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Ovary
22%
Liver
8%
Heart
6%
Lung
2%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
EFNB3EPHB1EPHB3EPHB6EPHB2EPHA4EPHA1
PROTEIN STRUCTURE
Preparing viewer…
PDB4BKF · 4.65 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.51 [0.33–0.81]
RankingsWhere EFNB3 stands among ~20K protein-coding genes
  • #7,957of 20,598
    Most Researched57
  • #6,718of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedEFNB3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Barcoded viral tracing of single-cell interactions in central nervous system inflammation.
PMID: 33888612
Science · 2021
1.00
2
Comparative integromics on Ephrin family.
PMID: 16596216
Oncol Rep · 2006
0.90
3
Implications of EPHB6, EFNB2, and EFNB3 expressions in human neuroblastoma.
PMID: 10984508
Proc Natl Acad Sci U S A · 2000
0.80
4
Ephrin B3 exacerbates colitis and colitis-associated colorectal cancer.
PMID: 38142837
Biochem Pharmacol · 2024
0.70
5
High-level expression of EPHB6, EFNB2, and EFNB3 is associated with low tumor stage and high TrkA expression in human neuroblastomas.
PMID: 10389937
Clin Cancer Res · 1999
0.60