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CITED2

The protein encoded by this gene inhibits transactivation of HIF1A-induced genes by competing with binding of hypoxia-inducible factor 1-alpha to p300-CH1. Mutations in this gene are a cause of cardiac septal defects. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Protein class

Disease related genes, Human disease related genes, Plasma proteins

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Extravillous trophoblasts, Plasma cells)

Immune cell specificity

Immune cell enhanced (eosinophil)

Cell line specificity

Cell line enhanced (BJ, fHDF/TERT166)

Interaction

Interacts (via C-terminus) with SMAD2. Interacts (via C-terminus) with SMAD3 (via MH2 domain). Interacts with LHX2 (via LIM domains). Interacts with WT1 (By similarity). Interacts (via C-terminus) with EP300 (via CH1 domain); the interaction is stimulated in response to hypoxia. Interacts with PPARA. Interacts (via C-terminus) with TFAP2A, TFAP2B and TFAP2C.

Molecular function

Activator, Developmental protein, Repressor

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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