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MADH2 Gene
Definition and Synonyms

Definition: Ubiquitously transcribed from CpG promoters and 3-Mb proximal to SMAD4, 12-exon 90-kb human MADH2 Gene (SMAD Family) at 18q21.1 expresses 2.9- and 3.4-kb transcripts encoding 438/467-aa 52-kD SMAD2 containing a DWA/MH1 and DWB/MH2 domain. SMADs mediate Activin, TGFB, and BMP receptor Ser/Thr kinase cell growth/differentiation regulation. Retained by cytoplasmic SARA, SMAD2/SMAD3 are phosphorylated on conserved C-terminal MH2 docking SER-X-SERs by activated receptor. SMAD2/SMAD3 oligomerize with nuclear SMAD4, disrupting SNON/SMAD4 repressors. SMAD3 causes SNON degradation. SMAD2/SMAD4 activate target promoters. TGFBR activity maintains nuclear SMADs and increases feedback SNON expression. SMAD2 interacts with FAST-1/-2, TGIF, PEBP2-A, CBP, p300, c-SKI, NUP214, NUP153, and SMURF2. MADR2 mutations may disrupt growth inhibition. (from LocusLink, Swiss-Prot, OMIM, and NCI)

Synonyms: MADH2 Gene, JV18, JV18-1, MADH2, MADR2, SMAD2

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