EFNB1 Gene (Ephrin B1)
Key regulator of cell migration, boundary formation, and craniofacial development; mutations cause craniofrontonasal syndrome.
Gene Information Card
| Symbol | EFNB1 |
|---|---|
| Full Name | Ephrin B1 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 1947 ncbi.nlm.nih.gov/gene/1947 |
| Ensembl ID | ENSG00000169213 |
| UniProt ID | P98172 |
| OMIM ID | 300035 |
| HGNC ID | 3226 |
| Aliases | CFNS, EFL3, EPLG2, LERK2 |
Description
EFNB1 encodes ephrin B1, a transmembrane ligand for Eph receptors. It is involved in cell-cell signaling, boundary formation, and cell migration during embryonic development. Mutations in EFNB1 cause craniofrontonasal syndrome (CFNS), an X-linked developmental disorder characterized by craniofacial and skeletal abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Craniofrontonasal syndrome (CFNS) | Loss-of-function mutations in EFNB1 disrupt ephrin B1-mediated cell sorting and boundary formation, leading to craniofacial and skeletal defects. | ClinVar, OMIM |
| Corpus callosum agenesis | EFNB1 mutations impair axon guidance and midline development. | OMIM |
| Hypertelorism | Disrupted ephrin B1 signaling affects facial midline development. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 6.7 | Low |
| Kidney | 9.1 | Low |
| Skin | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.4 | Cervical cancer cell line |
| K562 | 7.8 | Leukemia cell line |
| HUVEC | 14.1 | Endothelial cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | ~30% of CFNS cases | Loss of function; premature stop codon |
| c.404G>A (p.Arg135Gln) | Missense | ~5% of CFNS cases | Loss of function; impaired receptor binding |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein translation |
Mutation functional classification
Loss of Function (LOF)
Majority of EFNB1 mutations in CFNS are loss-of-function, including nonsense, frameshift, and missense variants that disrupt ligand-receptor interaction or protein stability.
Gain of Function (GOF)
No gain-of-function mutations reported in EFNB1.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner by interfering with wild-type ephrin B1 clustering or signaling.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ephrin B reverse signaling
• Eph receptor forward signaling
• Axon guidance
Protein Summary
Ephrin B1 is a 346-amino acid transmembrane protein with an extracellular ephrin domain and a cytoplasmic PDZ-binding motif. It binds EphB receptors to mediate bidirectional signaling, regulating cell repulsion, adhesion, and migration. In development, it is critical for neural crest cell migration and craniofacial morphogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EFNB1 Knockout HEK293 Cell Line | EDJ-KQ4501 | Human | 1947 | Details Get a Quote |
| EFNB1 Knockout A-549 Cell Line | EDJ-KQ27096 | Human | 1947 | Details Get a Quote |
| EFNB1 Knockout HCT 116 Cell Line | EDJ-KQ27097 | Human | 1947 | Details Get a Quote |
| EFNB1 Knockout HeLa Cell Line | EDJ-KQ27098 | Human | 1947 | Details Get a Quote |
