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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 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
3
Cytoband
q26.2
Chromosome location (bp)
169083499 - 169663775
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
[Isoform 1]: Functions as a transcriptional regulator binding to DNA sequences in the promoter region of target genes and regulating positively or negatively their expression. Oncogene which plays a role in development, cell proliferation and differentiation. May also play a role in apoptosis through regulation of the JNK and TGF-beta signaling. Involved in hematopoiesis....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]...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 Transferases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000118[histone deacetylase complex] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] 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:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006915[apoptotic process] GO:0008168[methyltransferase activity] GO:0016570[histone modification] GO:0016607[nuclear speck] GO:0016740[transferase activity] GO:0018024[histone-lysine N-methyltransferase activity] GO:0030154[cell differentiation] GO:0032259[methylation] GO:0043069[negative regulation of programmed cell death] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046329[negative regulation of JNK cascade] GO:0046872[metal ion binding] GO:0046974[histone H3K9 methyltransferase activity] GO:0051726[regulation of cell cycle] GO:0070828[heterochromatin organization] GO:0071425[hematopoietic stem cell proliferation] GO:0140947[] GO:0140948[]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000118[histone deacetylase complex] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] 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:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006915[apoptotic process] GO:0008168[methyltransferase activity] GO:0016570[histone modification] GO:0016607[nuclear speck] GO:0016740[transferase activity] GO:0018024[histone-lysine N-methyltransferase activity] GO:0030154[cell differentiation] GO:0032259[methylation] GO:0043069[negative regulation of programmed cell death] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046329[negative regulation of JNK cascade] GO:0046872[metal ion binding] GO:0046974[histone H3K9 methyltransferase activity] GO:0051726[regulation of cell cycle] GO:0070828[heterochromatin organization] GO:0071425[hematopoietic stem cell proliferation] GO:0140947[] GO:0140948[]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000118[histone deacetylase complex] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] 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:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006915[apoptotic process] GO:0008168[methyltransferase activity] GO:0016570[histone modification] GO:0016607[nuclear speck] GO:0016740[transferase activity] GO:0018024[histone-lysine N-methyltransferase activity] GO:0030154[cell differentiation] GO:0032259[methylation] GO:0042803[protein homodimerization activity] GO:0043069[negative regulation of programmed cell death] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046329[negative regulation of JNK cascade] GO:0046872[metal ion binding] GO:0046974[histone H3K9 methyltransferase activity] GO:0051726[regulation of cell cycle] GO:0070828[heterochromatin organization] GO:0071425[hematopoietic stem cell proliferation] GO:0140947[] GO:0140948[]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000118[histone deacetylase complex] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] 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:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006915[apoptotic process] GO:0008168[methyltransferase activity] GO:0016570[histone modification] GO:0016607[nuclear speck] GO:0016740[transferase activity] GO:0018024[histone-lysine N-methyltransferase activity] GO:0030154[cell differentiation] GO:0032259[methylation] GO:0043069[negative regulation of programmed cell death] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046329[negative regulation of JNK cascade] GO:0046872[metal ion binding] GO:0046974[histone H3K9 methyltransferase activity] GO:0051726[regulation of cell cycle] GO:0070828[heterochromatin organization] GO:0071425[hematopoietic stem cell proliferation] GO:0140947[] GO:0140948[]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000118[histone deacetylase complex] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] 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:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006915[apoptotic process] GO:0008168[methyltransferase activity] GO:0016570[histone modification] GO:0016607[nuclear speck] GO:0016740[transferase activity] GO:0018024[histone-lysine N-methyltransferase activity] GO:0030154[cell differentiation] GO:0032259[methylation] GO:0042803[protein homodimerization activity] GO:0043069[negative regulation of programmed cell death] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046329[negative regulation of JNK cascade] GO:0046872[metal ion binding] GO:0046974[histone H3K9 methyltransferase activity] GO:0051726[regulation of cell cycle] GO:0070828[heterochromatin organization] GO:0071425[hematopoietic stem cell proliferation] GO:0140947[] GO:0140948[]
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000118[histone deacetylase complex] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] 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:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006915[apoptotic process] GO:0008168[methyltransferase activity] GO:0016570[histone modification] GO:0016607[nuclear speck] GO:0016740[transferase activity] GO:0018024[histone-lysine N-methyltransferase activity] GO:0030154[cell differentiation] GO:0032259[methylation] GO:0043069[negative regulation of programmed cell death] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046329[negative regulation of JNK cascade] GO:0046872[metal ion binding] GO:0046974[histone H3K9 methyltransferase activity] GO:0051726[regulation of cell cycle] GO:0070828[heterochromatin organization] GO:0071425[hematopoietic stem cell proliferation] GO:0140947[] GO:0140948[]
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