EFEMP1


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EFEMP1

A gene on chromosome 2p16 that encodes a member of the fibulin family of extracellular matrix glycoproteins, which contain tandemly repeated epidermal growth factor (EGF)-like repeats followed by a C-terminus fibulin-type domain.

Molecular pathology
EFEMP1 is upregulated in malignant gliomas and may play a role in tumour aggression; EFEMP1 mutations cause Doyne honeycomb retinal dystrophy.
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Correlations between the mRNA expression levels of ACLY, AURKB, CD74, CDKN2D, E2F1, EFEMP1, LIF, and TGM2 were evaluated using hierarchical cluster analyses with the nearest-neighbor algorithm and are presented in a dendrogram that was generated using SPSS version 24.0.
Based on these correlation patterns, AURKB, E2F1, CDKN2D, LIF, and ACLY were allocated to group 1 and CD74, EFEMP1, and TGM2 were allocated to group 2, suggesting the presence of two predominant signaling pathways that determine chondrogenic differentiation potential.
The expression levels of the group 2 genes CD74, EFEMP1, and TGM2 were negatively correlated with donor ages (Table 3 and Figure 6), whereas no significant correlations were found for group 1 genes, suggesting that group 2 genes play predominant roles in age-dependent MSC chondrogenic differentiation potential.
Accordingly, the group 1 genes AURKB [18], E2F1 [19-21], CDKN2D [22], LIF [23, 24], and ACLY [25] participate in cell cycle regulation, whereas the group 2 genes EFEMP1 [26, 27], CD74 [24, 28-30], and TGM2 [31, 32] are involved in the regulation of chondrogenesis.
EFEMP1 (also known as fibulin-3), an ECM protein, is specifically expressed in cartilage and acts as a negative regulator of chondrogenesis [26].
In this study, the expression levels of the group 2 genes EFEMP1, CD74, and TGM2 were negatively correlated with the donor ages, potentially indicating their characterized roles in chondrogenesis.
Volkmann et al., "Decreased expression of angiogenesis antagonist EFEMP1 in sporadic breast cancer is caused by aberrant promoter methylation and points to an impact of EFEMP1 as molecular biomarker," International Journal of Cancer, vol.
Siegel et al., "EFEMP1 suppresses malignant glioma growth and exerts its action within the tumor extracellular compartment," Molecular Cancer, vol.
Remarkably, genes involved in EGFR activation were identified (EFEMP1, EPS15LI).