EPHB4

Chr 7q22.1

EPH receptor B4

Aliases:: Tyro11
MANE:: ENST00000358173.8

OMIM: 600011 ↗NCBI: 2050 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

EPHB4 · P54760

v62025-08-01

Predicted Aligned Error matrix for EPHB4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.0/ 100

Confident

987 residues

Confidence breakdown

Very high(≥ 90)46%
Confident(70–90)37%
Low(50–70)7%
Very low(< 50)10%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal hydrops
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary haemorrhagic telangiectasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary lymphoedema
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Vascular skin disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mosaic skin disorders - deep sequencing
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

Capillary malformation - arteriovenous malformation
0.84
lymphatic malformation 7
0.74
medullary thyroid gland carcinoma
0.54
Abnormality of the cardiovascular system
0.53
vein of Galen aneurysm
0.51
EPHB4-associated vascular malformation spectrum
0.51
capillary malformation-arteriovenous malformation syndrome
0.47
Milroy disease
0.41
neoplasm
0.40
non-small cell lung carcinoma
0.40

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Ephrin type-B receptor 4

Receptor tyrosine kinase which binds promiscuously to transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Together with its cognate ligand/functional ligand EFNB2, it is involved in the regulation of cell adhesion and migration, and plays a central role in heart morphogenesis, angiogenesis and blood vessel remodeling and permeability. EPHB4-mediated forward signaling controls cellular repulsion and segregation from EFNB2-expressing cells. Phosphorylates inactive tyrosine-protein kinase EPHB6 which promotes interaction of EPHB6 with SH2 domains, allowing it to recruit SH2 domain-containing signaling adapters (PubMed:34431498)