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GeneE
27 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
EPHB4
EPH receptor B4
Chromosome 7 Β· 7q22.1
NCBI Gene: 2050Ensembl: ENSG00000196411.10HGNC: HGNC:3395UniProt: P54760
202PubMed Papers
22Diseases
4Drugs
135Pathogenic Variants
FUNCTIONAL ROLE
KinaseReceptor
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
plasma membranecell migration involved in sprouting angiogenesiscell adhesionephrin receptor activityCapillary malformation - arteriovenous malformationlymphatic malformation 7Abnormality of the cardiovascular systemmedullary thyroid gland carcinoma
✦AI Summary

EPHB4 (EPH receptor B4) is a receptor tyrosine kinase that binds ephrin-B ligands on adjacent cells to mediate bidirectional signaling involved in vascular development and cell-cell interactions. EPHB4 functions through forward signaling that controls cellular repulsion and segregation, while also participating in reverse signaling pathways 1. The receptor plays a central role in angiogenesis and lymphangiogenesis by regulating endothelial cell sprouting and motility, partly through coupling VEGFR3 internalization to Rac1/Akt/ERK signaling 1. Critically, EPHB4 interacts with RASA1 (p120 RasGAP) to suppress Ras-MAPK pathway activation; this interaction is essential for lymphatic valve specification and maintenance by dampening PIEZO1-induced Ras signaling in response to oscillatory shear stress 2. Germline loss-of-function EPHB4 mutations cause capillary malformation-arteriovenous malformation 2 (CM-AVM2), a multifocal vascular disorder phenotypically similar to RASA1-related CM-AVM1 3. EPHB4 mutations are also enriched in vein of Galen malformations, the most severe congenital brain arteriovenous malformations, particularly when combined with additional "second-hit" variants affecting cerebrovascular development 4. Beyond vascular disease, aberrant EFNB1-EPHB4 interactions driven by TP53 mutations promote epithelial-mesenchymal transition and proliferation in esophageal squamous-cell carcinoma through SRC/ERK/AKT signaling 5. EPHB4 signaling also influences neurooncological disease progression and antiangiogenic therapy resistance 6.

Sources cited
1
Ephrin-B2 promotes sprouting angiogenesis and controls VEGFR3 internalization and downstream Rac1/Akt/ERK signaling
PMID: 20445537
2
EPHB4-RASA1 physical interaction suppresses Ras-MAPK activation via PIEZO1 to regulate lymphatic valve specification and maintenance
PMID: 39421925
3
Loss-of-function EPHB4 mutations cause capillary malformation-arteriovenous malformation type 2 through dysregulation of RAS-MAPK signaling
PMID: 28687708
4
EPHB4 variants are enriched in vein of Galen malformations and disrupt developmental angiogenesis in the presence of second-hit alleles
PMID: 37978175
5
Aberrant EFNB1-EPHB4 interactions promote epithelial-mesenchymal transition and proliferation in esophageal squamous-cell carcinoma via SRC/ERK/AKT signaling
PMID: 38097539
6
EphrinB2-EphB4 signaling influences neurooncological disease progression and antiangiogenic therapy resistance in glioma and metastatic disease
PMID: 35163601
Disease Associationsβ“˜22
Capillary malformation - arteriovenous malformationOpen Targets
0.83Strong
lymphatic malformation 7Open Targets
0.75Strong
Abnormality of the cardiovascular systemOpen Targets
0.53Moderate
medullary thyroid gland carcinomaOpen Targets
0.52Moderate
EPHB4-associated vascular malformation spectrumOpen Targets
0.51Moderate
vein of Galen aneurysmOpen Targets
0.51Moderate
capillary malformation-arteriovenous malformation syndromeOpen Targets
0.46Moderate
neoplasmOpen Targets
0.43Moderate
Milroy diseaseOpen Targets
0.41Moderate
non-small cell lung carcinomaOpen Targets
0.39Weak
hair colorOpen Targets
0.39Weak
thyroid neoplasmOpen Targets
0.39Weak
hydrops fetalisOpen Targets
0.37Weak
Meige diseaseOpen Targets
0.37Weak
thyroid carcinomaOpen Targets
0.37Weak
lung cancerOpen Targets
0.36Weak
arteriovenous hemangioma/malformationOpen Targets
0.34Weak
thyroid cancerOpen Targets
0.34Weak
cardiac arrhythmiaOpen Targets
0.28Weak
neurodegenerative diseaseOpen Targets
0.28Weak
Capillary malformation-arteriovenous malformation 2UniProt
Lymphatic malformation 7UniProt
Pathogenic Variants135
NM_004444.5(EPHB4):c.2353C>T (p.Arg785Ter)Pathogenic
EPHB4-related disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 785
NM_004444.5(EPHB4):c.1291C>T (p.Arg431Ter)Pathogenic
not provided|Capillary malformation-arteriovenous malformation syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 431
NM_004444.5(EPHB4):c.1738C>T (p.Gln580Ter)Pathogenic
not provided|Capillary malformation-arteriovenous malformation 2;Lymphatic malformation 7|Capillary malformation-arteriovenous malformation 2
β˜…β˜…β˜†β˜†2025β†’ Residue 580
NM_004444.5(EPHB4):c.1423-6G>APathogenic
not provided|Hereditary lymphedema type I
β˜…β˜…β˜†β˜†2025
NM_004444.5(EPHB4):c.2718C>G (p.Tyr906Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 906
NM_004444.5(EPHB4):c.2022dup (p.Asn675fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 675
NM_004444.5(EPHB4):c.2287C>T (p.Arg763Ter)Pathogenic
Capillary malformation-arteriovenous malformation 2|Cardiovascular phenotype|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 763
NM_004444.5(EPHB4):c.839C>G (p.Ser280Ter)Pathogenic
not provided|Lymphatic malformation 7
β˜…β˜…β˜†β˜†2024β†’ Residue 280
NM_004444.5(EPHB4):c.805C>T (p.Arg269Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 269
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys)Pathogenic
Capillary malformation-arteriovenous malformation 2|not provided|EPHB4-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 664
NM_004444.5(EPHB4):c.2216G>A (p.Arg739Gln)Pathogenic
Lymphatic malformation 7|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 739
NM_004444.5(EPHB4):c.2484+1G>APathogenic
Capillary malformation-arteriovenous malformation 2|not provided
β˜…β˜…β˜†β˜†2023
NM_004444.5(EPHB4):c.2354G>A (p.Arg785Gln)Pathogenic
Lymphatic malformation 7|EPHB4-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 785
NM_004444.5(EPHB4):c.1609C>T (p.Gln537Ter)Pathogenic
not provided|EPHB4-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 537
NM_004444.5(EPHB4):c.2215C>T (p.Arg739Ter)Pathogenic
Capillary malformation-arteriovenous malformation 2|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 739
NM_004444.5(EPHB4):c.2078_2079del (p.Thr693fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 693
NM_004444.5(EPHB4):c.1093C>T (p.Arg365Ter)Pathogenic
Capillary malformation-arteriovenous malformation 2|not provided|Lymphatic malformation 7;Capillary malformation-arteriovenous malformation 2
β˜…β˜…β˜†β˜†2022β†’ Residue 365
NM_004444.5(EPHB4):c.896C>G (p.Ser299Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 299
NM_004444.5(EPHB4):c.1039dup (p.Leu347fs)Pathogenic
not provided|Lymphatic malformation 7;Capillary malformation-arteriovenous malformation 2
β˜…β˜…β˜†β˜†2021β†’ Residue 347
NM_004444.5(EPHB4):c.605_606del (p.Val202fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2021β†’ Residue 202
View on ClinVar β†—
Drug Targets4
JI-101Phase II
Ephrin type-B receptor 4 inhibitor
TESEVATINIBPhase III
Ephrin type-B receptor 4 inhibitor
non-small cell lung carcinoma
TG100-801Phase II
Ephrin type-B receptor 4 inhibitor
macular degeneration
VANDETANIBApproved
Ephrin receptor inhibitor
Related Genes
EPHA3Protein interaction100%EPHB2Protein interaction100%BCAR1Protein interaction100%NGEFProtein interaction93%EPOProtein interaction83%VEGFCProtein interaction78%
Tissue Expression6 tissues
Ovary
100%
Liver
89%
Lung
77%
Heart
53%
Bone Marrow
30%
Brain
5%
Gene Interaction Network
Click a node to explore
EPHB4EPHA3EPHB2BCAR1NGEFEPOVEGFC
PROTEIN STRUCTURE
Preparing viewer…
PDB6FNK Β· 1.05 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.65LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.51 [0.40–0.65]
RankingsWhere EPHB4 stands among ~20K protein-coding genes
  • #2,080of 20,598
    Most Researched202 Β· top quartile
  • #865of 1,025
    FDA-Approved Drug Targets1
  • #570of 5,498
    Most Pathogenic Variants135 Β· top quartile
  • #4,633of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedEPHB4
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
Aberrant epithelial cell interaction promotes esophageal squamous-cell carcinoma development and progression.
PMID: 38097539
Signal Transduct Target Ther Β· 2023
1.00
2
Ephrin-B2 controls VEGF-induced angiogenesis and lymphangiogenesis.
PMID: 20445537
Nature Β· 2010
0.90
3
Mutations in EPHB4 cause human venous valve aplasia.
PMID: 34403370
JCI Insight Β· 2021
0.80
4
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
PMID: 28687708
Circulation Β· 2017
0.80
5
EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease.
PMID: 30819650
Trends Mol Med Β· 2019
0.70