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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
17
Cytoband
p13.1
Chromosome location (bp)
7834217 - 7854796
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code 1,2,3,4. Demethylates trimethylated and dimethylated H3 'Lys-27' 5,6,7,8. Plays a central role in regulation of posterior development, by regulating HOX gene expression 9. Involved in inflammatory response by participating in macrophage differentiation in case of inflammation by regulating gene expression and macrophage differentiation 10. Plays a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expression by acting as a link between T-box factors and the SMARCA4-containing SWI/SNF remodeling complex (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Chromatin regulator, Dioxygenase, Oxidoreductase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Inflammatory response
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Iron, Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a lysine-specific demethylase that specifically demethylates di- or tri-methylated lysine 27 of histone H3 (H3K27me2 or H3K27me3). H3K27 trimethylation is a repressive epigenetic mark controlling chromatin organization and gene silencing. This protein can also demethylate non-histone proteins such as retinoblastoma protein. Through its demethylation actvity this gene influences cellular differentiation and development, tumorigenesis, inflammatory diseases, and neurodegenerative diseases. This protein has two classical nuclear localization signals at its N-terminus. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Oxidoreductases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006338[chromatin remodeling] GO:0006954[inflammatory response] GO:0007507[heart development] GO:0010468[regulation of gene expression] GO:0016491[oxidoreductase activity] GO:0031490[chromatin DNA binding] GO:0032452[histone demethylase activity] GO:0044666[MLL3/4 complex] GO:0045446[endothelial cell differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048333[mesodermal cell differentiation] GO:0051213[dioxygenase activity] GO:0055007[cardiac muscle cell differentiation] GO:0071557[histone H3-K27 demethylation] GO:0071558[histone H3K27me2/H3K27me3 demethylase activity] GO:0120162[positive regulation of cold-induced thermogenesis]
Enzymes ENZYME proteins Oxidoreductases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006338[chromatin remodeling] GO:0006954[inflammatory response] GO:0007507[heart development] GO:0008013[beta-catenin binding] GO:0010468[regulation of gene expression] GO:0016491[oxidoreductase activity] GO:0031490[chromatin DNA binding] GO:0032452[histone demethylase activity] GO:0043565[sequence-specific DNA binding] GO:0044666[MLL3/4 complex] GO:0045165[cell fate commitment] GO:0045446[endothelial cell differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048333[mesodermal cell differentiation] GO:0051213[dioxygenase activity] GO:0055007[cardiac muscle cell differentiation] GO:0070301[cellular response to hydrogen peroxide] GO:0071557[histone H3-K27 demethylation] GO:0071558[histone H3K27me2/H3K27me3 demethylase activity] GO:0120162[positive regulation of cold-induced thermogenesis]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
