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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 Human disease related genes Transcription factors
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
21
Cytoband
q22.2
Chromosome location (bp)
38380027 - 38661780
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcriptional regulator. May participate in transcriptional regulation through the recruitment of SETDB1 histone methyltransferase and subsequent modification of local chromatin structure....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis. The protein encoded by this gene is mainly expressed in the nucleus. It contains an ETS DNA-binding domain and a PNT (pointed) domain which is implicated in the self-association of chimeric oncoproteins. This protein is required for platelet adhesion to the subendothelium, inducing vascular cell remodeling. It also regulates hematopoesis, and the differentiation and maturation of megakaryocytic cells. This gene is involved in chromosomal translocations, resulting in different fusion gene products, such as TMPSSR2-ERG and NDRG1-ERG in prostate cancer, EWS-ERG in Ewing's sarcoma and FUS-ERG in acute myeloid leukemia. More than two dozens of transcript variants generated from combinatorial usage of three alternative promoters and multiple alternative splicing events have been reported, but the full-length nature of many of these variants has not been determined. [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 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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of soft tissues and bone Cancers of male genital organs Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006468[protein phosphorylation] GO:0007165[signal transduction] GO:0030154[cell differentiation] GO:0043565[sequence-specific DNA binding] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:1990837[sequence-specific double-stranded DNA binding] GO:1990904[ribonucleoprotein complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of soft tissues and bone Cancers of male genital organs Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006468[protein phosphorylation] GO:0007165[signal transduction] GO:0030154[cell differentiation] GO:0043565[sequence-specific DNA binding] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:1990837[sequence-specific double-stranded DNA binding] GO:1990904[ribonucleoprotein complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of soft tissues and bone Cancers of male genital organs Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0043565[sequence-specific DNA binding] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of soft tissues and bone Cancers of male genital organs Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0043565[sequence-specific DNA binding] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of soft tissues and bone Cancers of male genital organs Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0043565[sequence-specific DNA binding] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of soft tissues and bone Cancers of male genital organs Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006468[protein phosphorylation] GO:0007165[signal transduction] GO:0030154[cell differentiation] GO:0043565[sequence-specific DNA binding] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:1990837[sequence-specific double-stranded DNA binding] GO:1990904[ribonucleoprotein complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of soft tissues and bone Cancers of male genital organs Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006468[protein phosphorylation] GO:0007165[signal transduction] GO:0030154[cell differentiation] GO:0043565[sequence-specific DNA binding] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:1990837[sequence-specific double-stranded DNA binding] GO:1990904[ribonucleoprotein complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of soft tissues and bone Cancers of male genital organs Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006468[protein phosphorylation] GO:0007165[signal transduction] GO:0030154[cell differentiation] GO:0043565[sequence-specific DNA binding] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:1990837[sequence-specific double-stranded DNA binding] GO:1990904[ribonucleoprotein complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of soft tissues and bone Cancers of male genital organs Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006468[protein phosphorylation] GO:0007165[signal transduction] GO:0030154[cell differentiation] GO:0043565[sequence-specific DNA binding] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:1990837[sequence-specific double-stranded DNA binding] GO:1990904[ribonucleoprotein complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of soft tissues and bone Cancers of male genital organs Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0043565[sequence-specific DNA binding] GO:1990837[sequence-specific double-stranded DNA binding]
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