EFNB2 Gene - Ephrin B2
Ephrin B2: A key regulator of vascular development, axon guidance, and cancer progression
Gene Information Card
| Symbol | EFNB2 |
|---|---|
| Full Name | Ephrin B2 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q33.3 |
| NCBI Gene ID | 1948 ncbi.nlm.nih.gov/gene/1948 |
| Ensembl ID | ENSG00000172116 |
| UniProt ID | P52799 |
| OMIM ID | 600527 |
| HGNC ID | 3226 |
| Aliases | EPLG5, HTK-L, LERK5, MGC126226, MGC126227 |
Description
EFNB2 encodes ephrin B2, a transmembrane ligand for Eph receptor tyrosine kinases. It is essential for embryonic vascular development, axon guidance, and cell migration. EFNB2 is involved in bidirectional signaling and plays roles in cancer, cardiovascular disease, and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Craniofrontonasal syndrome | Loss-of-function mutations in EFNB2 disrupt ephrin-Eph signaling, leading to craniofacial and skeletal abnormalities. | OMIM #304110 |
| Vascular malformations | EFNB2 mutations impair arterial-venous differentiation, causing abnormal blood vessel formation. | ClinVar |
| Colorectal cancer | EFNB2 overexpression promotes tumor angiogenesis and metastasis via EphB4 receptor activation. | COSMIC, PubMed |
| Breast cancer | EFNB2 upregulation correlates with poor prognosis and increased invasiveness. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 15.2 | Medium |
| Lung | 12.8 | Medium |
| Kidney | 18.5 | Medium |
| Placenta | 22.1 | High |
| Brain | 8.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 25.3 | High expression in endothelial cells |
| HEK293 (embryonic kidney) | 14.7 | Moderate expression |
| MCF7 (breast cancer) | 19.1 | Overexpressed in breast cancer |
| A549 (lung cancer) | 11.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.442C>T (p.Arg148*) | Nonsense | Rare | Loss of function; associated with craniofrontonasal syndrome |
| c.584G>A (p.Arg195His) | Missense | Rare | Impaired receptor binding; vascular malformations |
| c.1A>G (p.Met1?) | Start loss | Very rare | Complete loss of protein; severe developmental defects |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg148*) lead to truncated protein and loss of ephrin B2 function, causing craniofrontonasal syndrome.
Gain of Function (GOF)
Not well documented; overexpression in tumors may act as a gain-of-function by enhancing EphB4 signaling.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg195His) may interfere with wild-type ephrin B2 function in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ephrin B reverse signaling (Reactome: R-HSA-3928662)
• Ephrin B forward signaling (Reactome: R-HSA-3928665)
• Axon guidance (KEGG: hsa04360)
• Signaling by Eph receptors (Reactome: R-HSA-2682334)
Protein Summary
Ephrin B2 is a transmembrane protein of 333 amino acids (UniProt P52799). It contains an extracellular ephrin domain, a transmembrane region, and a cytoplasmic tail with PDZ-binding motif. It binds to EphB4 and other Eph receptors, mediating bidirectional signaling critical for vascular patterning, neural development, and tissue boundary formation. Post-translational modifications include glycosylation and palmitoylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EFNB2 Knockout HEK293 Cell Line | EDC90540 | Human | 1948 | Details Get a Quote |
| EFNB2 Knockout A-549 Cell Line | EDJ-KQ27099 | Human | 1948 | Details Get a Quote |
| EFNB2 Knockout HCT 116 Cell Line | EDJ-KQ27100 | Human | 1948 | Details Get a Quote |
| EFNB2 Knockout HeLa Cell Line | EDJ-KQ27101 | Human | 1948 | Details Get a Quote |
| EFNB2 Overexpression HEK293 Stable Cell Line | EDC90190 | Human | 1948 | Details Get a Quote |
| EFNB2 Overexpression HEK293T/17 Stable Cell Line | EDC01478 | Human | 1948 | Details Get a Quote |
Displaying Records 1 To 6 Of 6 Records
