Identity
HGNC
LOCATION
7q22.1
LOCUSID
ALIAS
CMAVM2,HFASD,HTK,LMPHM7,MYK1,TYRO11
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2050
MIM: 600011
HGNC: 3395
Ensembl: ENSG00000196411
Variants:
dbSNP: 2050
ClinVar: 2050
TCGA: ENSG00000196411
COSMIC: EPHB4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000196411 | ENST00000358173 | P54760 |
| ENSG00000196411 | ENST00000358173 | Q541P7 |
| ENSG00000196411 | ENST00000360620 | Q96L35 |
| ENSG00000196411 | ENST00000616502 | P54760 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37909437 | 2024 | Biological Significance of EphB4 Expression in Cancer. | 1 |
| 38151336 | 2024 | SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic-related fetal hydrops and facial dysmorphology. | 0 |
| 37909437 | 2024 | Biological Significance of EphB4 Expression in Cancer. | 1 |
| 38151336 | 2024 | SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic-related fetal hydrops and facial dysmorphology. | 0 |
| 36813543 | 2023 | Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants. | 1 |
| 37507023 | 2023 | Diverse p120RasGAP interactions with doubly phosphorylated partners EphB4, p190RhoGAP, and Dok1. | 2 |
| 38150042 | 2023 | Discovery and Characterization of Ephrin B2 and EphB4 Dysregulation and Novel Mutations in Cerebral Cavernous Malformations: In Vitro and Patient-Derived Evidence of Ephrin-Mediated Endothelial Cell Pathophysiology. | 1 |
| 36813543 | 2023 | Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants. | 1 |
| 37507023 | 2023 | Diverse p120RasGAP interactions with doubly phosphorylated partners EphB4, p190RhoGAP, and Dok1. | 2 |
| 38150042 | 2023 | Discovery and Characterization of Ephrin B2 and EphB4 Dysregulation and Novel Mutations in Cerebral Cavernous Malformations: In Vitro and Patient-Derived Evidence of Ephrin-Mediated Endothelial Cell Pathophysiology. | 1 |
| 35163601 | 2022 | EphrinB2-EphB4 Signaling in Neurooncological Disease. | 6 |
| 35163601 | 2022 | EphrinB2-EphB4 Signaling in Neurooncological Disease. | 6 |
| 33598934 | 2021 | The differential expression of EPHB4 and ephrin B2 in cutaneous squamous cell carcinoma according to the grade of tumor differentiation: a clinicopathological study. | 1 |
| 34231312 | 2021 | EPHB4 mutation causes adult and adolescent-onset primary lymphedema. | 3 |
| 34296545 | 2021 | Low Expression of EphB2, EphB3, and EphB4 in Bladder Cancer: Novel Potential Indicators of Muscular Invasion. | 3 |
Citation
Dessen P
EPHB4 (EPH receptor B4)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/40470/ephb4
