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This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009]
Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000784 [nuclear chromosome, telomeric region] GO:0000993 [RNA polymerase II core binding] GO:0001711 [endodermal cell fate commitment] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006368 [transcription elongation from RNA polymerase II promoter] GO:0006378 [mRNA polyadenylation] GO:0007049 [cell cycle] GO:0008285 [negative regulation of cell proliferation] GO:0010390 [histone monoubiquitination] GO:0016055 [Wnt signaling pathway] GO:0016593 [Cdc73/Paf1 complex] GO:0019827 [stem cell population maintenance] GO:0030177 [positive regulation of Wnt signaling pathway] GO:0031442 [positive regulation of mRNA 3'-end processing] GO:0031648 [protein destabilization] GO:0032968 [positive regulation of transcription elongation from RNA polymerase II promoter] GO:0033523 [histone H2B ubiquitination] GO:0045638 [negative regulation of myeloid cell differentiation] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0048147 [negative regulation of fibroblast proliferation] GO:0050680 [negative regulation of epithelial cell proliferation] GO:0071222 [cellular response to lipopolysaccharide] GO:2000134 [negative regulation of G1/S transition of mitotic cell cycle]
