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EGR2

The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene.
Protein class

Disease related genes, Human disease related genes, Transcription factors

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Enteroendocrine cells, Breast myoepithelial cells, Breast glandular cells)

Immune cell specificity

Immune cell enhanced (intermediate monocyte, non-classical monocyte)

Cell line specificity

Cell line enriched (U-87 MG)

Interaction

Interacts with HCFC1 (PubMed:14532282). Interacts with WWP2 (PubMed:19651900). Interacts with UBC9 (PubMed:21836637). Interacts with CITED1 (By similarity). Interacts (via phosphorylated form) with SFN (By similarity).

Molecular function

Activator, DNA-binding, Transferase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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