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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).
Cancer-related genes 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
X
Cytoband
p11.3
Chromosome location (bp)
44873188 - 45112779
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. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27' 4,5,6. Plays a central role in regulation of posterior development, by regulating HOX gene expression 7. Demethylation of 'Lys-27' of histone H3 is concomitant with methylation of 'Lys-4' of histone H3, and regulates the recruitment of the PRC1 complex and monoubiquitination of histone H2A 8. Plays a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expression (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Chromatin regulator, Dioxygenase, Oxidoreductase
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
This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]...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 ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Enzymes ENZYME proteins Oxidoreductases THUMBUP predicted membrane proteins Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins 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 Large Deletions COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
THUMBUP predicted membrane proteins Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins 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 Large Deletions COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Large Deletions COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Large Deletions COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
THUMBUP predicted membrane proteins Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins 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 Large Deletions COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
THUMBUP predicted membrane proteins Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins 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 Large Deletions COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
THUMBUP predicted membrane proteins Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins 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 Large Deletions COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0001701[in utero embryonic development] GO:0001843[neural tube closure] GO:0003007[heart morphogenesis] GO:0003016[respiratory system process] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006338[chromatin remodeling] GO:0007507[heart development] GO:0010468[regulation of gene expression] GO:0010628[positive regulation of gene expression] GO:0016570[histone modification] GO:0021915[neural tube development] GO:0031490[chromatin DNA binding] GO:0032525[somite rostral/caudal axis specification] GO:0035097[histone methyltransferase complex] GO:0035264[multicellular organism growth] GO:0042802[identical protein binding] GO:0048333[mesodermal cell differentiation] GO:0048568[embryonic organ development] GO:0048570[notochord morphogenesis] GO:0071558[histone H3K27me2/H3K27me3 demethylase activity] GO:0072359[circulatory system development]
SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins 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 Large Deletions COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins 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 Large Deletions COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
THUMBUP predicted membrane proteins Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins 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 Large Deletions COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
THUMBUP predicted membrane proteins Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins 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 Large Deletions COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
