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This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes 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:0001701 [in utero embryonic development] GO:0001932 [regulation of protein phosphorylation] GO:0001934 [positive regulation of protein phosphorylation] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0005764 [lysosome] GO:0005886 [plasma membrane] GO:0007043 [cell-cell junction assembly] GO:0010508 [positive regulation of autophagy] GO:0010629 [negative regulation of gene expression] GO:0010823 [negative regulation of mitochondrion organization] GO:0030097 [hemopoiesis] GO:0030308 [negative regulation of cell growth] GO:0030336 [negative regulation of cell migration] GO:0030496 [midbody] GO:0030511 [positive regulation of transforming growth factor beta receptor signaling pathway] GO:0031929 [TOR signaling] GO:0032006 [regulation of TOR signaling] GO:0032007 [negative regulation of TOR signaling] GO:0032008 [positive regulation of TOR signaling] GO:0032403 [protein complex binding] GO:0032465 [regulation of cytokinesis] GO:0035024 [negative regulation of Rho protein signal transduction] GO:0035065 [regulation of histone acetylation] GO:0043065 [positive regulation of apoptotic process] GO:0044291 [cell-cell contact zone] GO:0045785 [positive regulation of cell adhesion] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0051898 [negative regulation of protein kinase B signaling] GO:0070373 [negative regulation of ERK1 and ERK2 cascade] GO:0072372 [primary cilium] GO:1900181 [negative regulation of protein localization to nucleus] GO:1901723 [negative regulation of cell proliferation involved in kidney development] GO:2000506 [negative regulation of energy homeostasis] GO:2000973 [regulation of pro-B cell differentiation] GO:2001170 [negative regulation of ATP biosynthetic process]
Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0001701 [in utero embryonic development] GO:0001932 [regulation of protein phosphorylation] GO:0001934 [positive regulation of protein phosphorylation] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0005764 [lysosome] GO:0005886 [plasma membrane] GO:0007043 [cell-cell junction assembly] GO:0010508 [positive regulation of autophagy] GO:0010629 [negative regulation of gene expression] GO:0010823 [negative regulation of mitochondrion organization] GO:0030097 [hemopoiesis] GO:0030308 [negative regulation of cell growth] GO:0030336 [negative regulation of cell migration] GO:0030496 [midbody] GO:0030511 [positive regulation of transforming growth factor beta receptor signaling pathway] GO:0031929 [TOR signaling] GO:0032006 [regulation of TOR signaling] GO:0032007 [negative regulation of TOR signaling] GO:0032008 [positive regulation of TOR signaling] GO:0032403 [protein complex binding] GO:0032465 [regulation of cytokinesis] GO:0035024 [negative regulation of Rho protein signal transduction] GO:0035065 [regulation of histone acetylation] GO:0043065 [positive regulation of apoptotic process] GO:0044291 [cell-cell contact zone] GO:0045785 [positive regulation of cell adhesion] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0051898 [negative regulation of protein kinase B signaling] GO:0070373 [negative regulation of ERK1 and ERK2 cascade] GO:0072372 [primary cilium] GO:1900181 [negative regulation of protein localization to nucleus] GO:1901723 [negative regulation of cell proliferation involved in kidney development] GO:2000506 [negative regulation of energy homeostasis] GO:2000973 [regulation of pro-B cell differentiation] GO:2001170 [negative regulation of ATP biosynthetic process]
Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014)