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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
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
20
Cytoband
Chromosome location (bp)
33490075 - 33650036
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes 1,2. Via association with PRDM14 is involved in regulation of embryonic stem cell (ESC) pluripotency 3. Involved in primordial germ cell (PCG) formation. Stabilizes PRDM14 and OCT4 on chromatin in a homooligomerization-dependent manner (By similarity). Can repress the expression of MMP7 in a ZBTB33-dependent manner 4. May function as a complex with the chimeric protein RUNX1/AML1-CBFA2T1/MTG8 (AML1-MTG8/ETO fusion protein) which is produced in acute myeloid leukemia with the chromosomal translocation t(8;21). May thus be involved in the repression of AML1-dependent transcription and the induction of G-CSF/CSF3-dependent cell growth. May be a tumor suppressor gene candidate involved in myeloid tumors with the deletion of the 20q11 region. Through heteromerization with CBFA2T3/MTG16 may be involved in regulation of the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes (By similarity). Required for the maintenance of the secretory cell lineage in the small intestine. Can inhibit Notch signaling probably by association with RBPJ and may be involved in GFI1-mediated Paneth cell differentiation (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Repressor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Ligand (UniProt)i
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
In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008]...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 Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0003714[transcription corepressor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006351[DNA-templated transcription] GO:0010976[positive regulation of neuron projection development] GO:0010977[negative regulation of neuron projection development] GO:0030855[epithelial cell differentiation] GO:0045746[negative regulation of Notch signaling pathway] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0060575[intestinal epithelial cell differentiation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003714[transcription corepressor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006351[DNA-templated transcription] GO:0010976[positive regulation of neuron projection development] GO:0010977[negative regulation of neuron projection development] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003714[transcription corepressor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006351[DNA-templated transcription] GO:0010976[positive regulation of neuron projection development] GO:0010977[negative regulation of neuron projection development] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003714[transcription corepressor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006351[DNA-templated transcription] GO:0010976[positive regulation of neuron projection development] GO:0010977[negative regulation of neuron projection development] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003714[transcription corepressor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006351[DNA-templated transcription] GO:0010976[positive regulation of neuron projection development] GO:0010977[negative regulation of neuron projection development] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003714[transcription corepressor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006351[DNA-templated transcription] GO:0010976[positive regulation of neuron projection development] GO:0010977[negative regulation of neuron projection development] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003714[transcription corepressor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006351[DNA-templated transcription] GO:0010976[positive regulation of neuron projection development] GO:0010977[negative regulation of neuron projection development] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding]
The Human Protein Atlas project is funded
