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: 30008
MIM: 604633
HGNC: 3219
Ensembl: ENSG00000172638
Variants:
dbSNP: 30008
ClinVar: 30008
TCGA: ENSG00000172638
COSMIC: EFEMP2
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Extracellular matrix organization | REACTOME | R-HSA-1474244 |
| Elastic fibre formation | REACTOME | R-HSA-1566948 |
| Molecules associated with elastic fibres | REACTOME | R-HSA-2129379 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38113391 | 2024 | Whole-exome sequencing uncovers a novel EFEMP2 gene variant (c.C247T) associated with dominant nonsyndromic thoracic aortic aneurysm. | 0 |
| 38113391 | 2024 | Whole-exome sequencing uncovers a novel EFEMP2 gene variant (c.C247T) associated with dominant nonsyndromic thoracic aortic aneurysm. | 0 |
| 36565192 | 2023 | Protective Role of Endothelial Fibulin-4 in Valvulo-Arterial Integrity. | 2 |
| 37420173 | 2023 | EFEMP2 upregulates PD-L1 expression via EGFR/ERK1/2/c-Jun signaling to promote the invasion of ovarian cancer cells. | 3 |
| 36565192 | 2023 | Protective Role of Endothelial Fibulin-4 in Valvulo-Arterial Integrity. | 2 |
| 37420173 | 2023 | EFEMP2 upregulates PD-L1 expression via EGFR/ERK1/2/c-Jun signaling to promote the invasion of ovarian cancer cells. | 3 |
| 35950373 | 2022 | Downregulation of fibulin-4 inhibits autophagy and promotes the sensitivity of esophageal squamous cell carcinoma cells to apatinib by activating the Akt-mTOR signaling pathway. | 3 |
| 36004647 | 2022 | EFEMP2 increases the invasion ability of cervical cancer cells by promoting EMT via the Raf/MEK/ERK signaling pathway. | 4 |
| 36316642 | 2022 | STEAP2 promotes osteosarcoma progression by inducing epithelial-mesenchymal transition via the PI3K/AKT/mTOR signaling pathway and is regulated by EFEMP2. | 3 |
| 35950373 | 2022 | Downregulation of fibulin-4 inhibits autophagy and promotes the sensitivity of esophageal squamous cell carcinoma cells to apatinib by activating the Akt-mTOR signaling pathway. | 3 |
| 36004647 | 2022 | EFEMP2 increases the invasion ability of cervical cancer cells by promoting EMT via the Raf/MEK/ERK signaling pathway. | 4 |
| 36316642 | 2022 | STEAP2 promotes osteosarcoma progression by inducing epithelial-mesenchymal transition via the PI3K/AKT/mTOR signaling pathway and is regulated by EFEMP2. | 3 |
| 32396873 | 2020 | EFEMP2 indicates assembly of M0 macrophage and more malignant phenotypes of glioma. | 32 |
| 32396873 | 2020 | EFEMP2 indicates assembly of M0 macrophage and more malignant phenotypes of glioma. | 32 |
| 31125616 | 2019 | Molecular dynamics simulations on human fibulin-4 mutants D203A and E126K reveal conformational changes in EGF domains potentially responsible for enhanced protease lability and impaired extracellular matrix assembly. | 2 |
Citation
Dessen P
EFEMP2 (EGF containing fibulin extracellular matrix protein 2)
Atlas Genet Cytogenet Oncol Haematol. 2015-02-01
Online version: http://atlasgeneticsoncology.org/gene/54977/efemp2-(egf-containing-fibulin-extracellular-matrix-protein-2)
