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This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
THUMBUP predicted membrane proteins Predicted intracellular proteins Plasma proteins Transcription factors Helix-turn-helix domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006325 [chromatin organization] GO:0006351 [transcription, DNA-templated] GO:0008270 [zinc ion binding] GO:0016706 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors] GO:0032453 [histone demethylase activity (H3-K4 specific)] GO:0034720 [histone H3-K4 demethylation] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0048511 [rhythmic process] GO:0055114 [oxidation-reduction process]
THUMBUP predicted membrane proteins Predicted intracellular proteins Plasma proteins Transcription factors Helix-turn-helix domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Ezkurdia et al 2014)
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GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006325 [chromatin organization] GO:0006351 [transcription, DNA-templated] GO:0008270 [zinc ion binding] GO:0016706 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors] GO:0032453 [histone demethylase activity (H3-K4 specific)] GO:0034720 [histone H3-K4 demethylation] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0048511 [rhythmic process] GO:0055114 [oxidation-reduction process]
THUMBUP predicted membrane proteins Predicted intracellular proteins Plasma proteins Transcription factors Helix-turn-helix domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Ezkurdia et al 2014)
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GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006325 [chromatin organization] GO:0006351 [transcription, DNA-templated] GO:0008270 [zinc ion binding] GO:0016706 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors] GO:0032453 [histone demethylase activity (H3-K4 specific)] GO:0034720 [histone H3-K4 demethylation] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0048511 [rhythmic process] GO:0055114 [oxidation-reduction process]
THUMBUP predicted membrane proteins Predicted intracellular proteins Plasma proteins Transcription factors Helix-turn-helix domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006325 [chromatin organization] GO:0006351 [transcription, DNA-templated] GO:0008270 [zinc ion binding] GO:0016706 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors] GO:0032453 [histone demethylase activity (H3-K4 specific)] GO:0034720 [histone H3-K4 demethylation] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0048511 [rhythmic process] GO:0055114 [oxidation-reduction process]
THUMBUP predicted membrane proteins Predicted intracellular proteins Plasma proteins Transcription factors Helix-turn-helix domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006325 [chromatin organization] GO:0006351 [transcription, DNA-templated] GO:0008270 [zinc ion binding] GO:0016706 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors] GO:0032453 [histone demethylase activity (H3-K4 specific)] GO:0034720 [histone H3-K4 demethylation] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0048511 [rhythmic process] GO:0055114 [oxidation-reduction process]