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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 Plasma proteins 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
q22.12
Chromosome location (bp)
34787801 - 36004667
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'- TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters (Probable). Essential for the development of normal hematopoiesis 1. Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the BLK promoter 2,3. Inhibits KAT6B-dependent transcriptional activation (By similarity). Involved in lineage commitment of immature T cell precursors. CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation. CBF complexes binding to the transcriptional silencer is essential for recruitment of nuclear protein complexes that catalyze epigenetic modifications to establish epigenetic ZBTB7B silencing (By similarity). Controls the anergy and suppressive function of regulatory T-cells (Treg) by associating with FOXP3. Activates the expression of IL2 and IFNG and down-regulates the expression of TNFRSF18, IL2RA and CTLA4, in conventional T-cells 4. Positively regulates the expression of RORC in T-helper 17 cells (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, DNA-binding, 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.
Chloride
Gene summary (Entrez)i
Useful information about the gene from Entrez
Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [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 Plasma proteins Transcription factors Immunoglobulin fold Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases 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:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] 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:0001503[ossification] GO:0002062[chondrocyte differentiation] GO:0002573[myeloid leukocyte differentiation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0010755[regulation of plasminogen activation] GO:0016513[core-binding factor complex] GO:0030097[hemopoiesis] GO:0030182[neuron differentiation] GO:0030854[positive regulation of granulocyte differentiation] GO:0032743[positive regulation of interleukin-2 production] GO:0032967[positive regulation of collagen biosynthetic process] GO:0043231[intracellular membrane-bounded organelle] GO:0043371[negative regulation of CD4-positive, alpha-beta T cell differentiation] GO:0043378[positive regulation of CD8-positive, alpha-beta T cell differentiation] GO:0045595[regulation of cell differentiation] GO:0045766[positive regulation of angiogenesis] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048935[peripheral nervous system neuron development] GO:0051094[positive regulation of developmental process] GO:0060043[regulation of cardiac muscle cell proliferation] GO:0061026[cardiac muscle tissue regeneration] GO:0071425[hematopoietic stem cell proliferation] GO:1903055[positive regulation of extracellular matrix organization] GO:1905203[regulation of connective tissue replacement] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Immunoglobulin fold Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001222[transcription corepressor binding] GO:0001223[transcription coactivator binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001503[ossification] GO:0002062[chondrocyte differentiation] GO:0002573[myeloid leukocyte differentiation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0010755[regulation of plasminogen activation] GO:0016513[core-binding factor complex] GO:0030097[hemopoiesis] GO:0030099[myeloid cell differentiation] GO:0030182[neuron differentiation] GO:0030854[positive regulation of granulocyte differentiation] GO:0032743[positive regulation of interleukin-2 production] GO:0032967[positive regulation of collagen biosynthetic process] GO:0042803[protein homodimerization activity] GO:0043231[intracellular membrane-bounded organelle] GO:0043371[negative regulation of CD4-positive, alpha-beta T cell differentiation] GO:0043378[positive regulation of CD8-positive, alpha-beta T cell differentiation] GO:0045595[regulation of cell differentiation] GO:0045766[positive regulation of angiogenesis] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048935[peripheral nervous system neuron development] GO:0051094[positive regulation of developmental process] GO:0060043[regulation of cardiac muscle cell proliferation] GO:0061026[cardiac muscle tissue regeneration] GO:0071425[hematopoietic stem cell proliferation] GO:0140297[DNA-binding transcription factor binding] GO:1903055[positive regulation of extracellular matrix organization] GO:1905203[regulation of connective tissue replacement] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Immunoglobulin fold Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] 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:0001503[ossification] GO:0002062[chondrocyte differentiation] GO:0002573[myeloid leukocyte differentiation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0010755[regulation of plasminogen activation] GO:0016513[core-binding factor complex] GO:0030097[hemopoiesis] GO:0030182[neuron differentiation] GO:0030854[positive regulation of granulocyte differentiation] GO:0032743[positive regulation of interleukin-2 production] GO:0032967[positive regulation of collagen biosynthetic process] GO:0043231[intracellular membrane-bounded organelle] GO:0043371[negative regulation of CD4-positive, alpha-beta T cell differentiation] GO:0043378[positive regulation of CD8-positive, alpha-beta T cell differentiation] GO:0045595[regulation of cell differentiation] GO:0045766[positive regulation of angiogenesis] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046982[protein heterodimerization activity] GO:0048935[peripheral nervous system neuron development] GO:0051094[positive regulation of developmental process] GO:0060043[regulation of cardiac muscle cell proliferation] GO:0061026[cardiac muscle tissue regeneration] GO:0071425[hematopoietic stem cell proliferation] GO:1903055[positive regulation of extracellular matrix organization] GO:1905203[regulation of connective tissue replacement] GO:1990837[sequence-specific double-stranded DNA binding]
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 Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases 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 Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
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GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0043231[intracellular membrane-bounded organelle] GO:0045893[positive regulation of DNA-templated transcription] GO:0051094[positive regulation of developmental process] GO:1990837[sequence-specific double-stranded DNA binding]
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 Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Immunoglobulin fold Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] 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:0001503[ossification] GO:0002062[chondrocyte differentiation] GO:0002573[myeloid leukocyte differentiation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0010755[regulation of plasminogen activation] GO:0016513[core-binding factor complex] GO:0030097[hemopoiesis] GO:0030182[neuron differentiation] GO:0030854[positive regulation of granulocyte differentiation] GO:0032743[positive regulation of interleukin-2 production] GO:0032967[positive regulation of collagen biosynthetic process] GO:0043231[intracellular membrane-bounded organelle] GO:0043371[negative regulation of CD4-positive, alpha-beta T cell differentiation] GO:0043378[positive regulation of CD8-positive, alpha-beta T cell differentiation] GO:0045595[regulation of cell differentiation] GO:0045766[positive regulation of angiogenesis] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048935[peripheral nervous system neuron development] GO:0051094[positive regulation of developmental process] GO:0060043[regulation of cardiac muscle cell proliferation] GO:0061026[cardiac muscle tissue regeneration] GO:0071425[hematopoietic stem cell proliferation] GO:1903055[positive regulation of extracellular matrix organization] GO:1905203[regulation of connective tissue replacement] GO:1990837[sequence-specific double-stranded DNA binding]
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 Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases 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 Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Immunoglobulin fold Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] 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:0001503[ossification] GO:0002062[chondrocyte differentiation] GO:0002573[myeloid leukocyte differentiation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0010755[regulation of plasminogen activation] GO:0016513[core-binding factor complex] GO:0030097[hemopoiesis] GO:0030182[neuron differentiation] GO:0030854[positive regulation of granulocyte differentiation] GO:0032743[positive regulation of interleukin-2 production] GO:0032967[positive regulation of collagen biosynthetic process] GO:0043231[intracellular membrane-bounded organelle] GO:0043371[negative regulation of CD4-positive, alpha-beta T cell differentiation] GO:0043378[positive regulation of CD8-positive, alpha-beta T cell differentiation] GO:0045595[regulation of cell differentiation] GO:0045766[positive regulation of angiogenesis] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048935[peripheral nervous system neuron development] GO:0051094[positive regulation of developmental process] GO:0060043[regulation of cardiac muscle cell proliferation] GO:0061026[cardiac muscle tissue regeneration] GO:0071425[hematopoietic stem cell proliferation] GO:1903055[positive regulation of extracellular matrix organization] GO:1905203[regulation of connective tissue replacement] GO:1990837[sequence-specific double-stranded DNA binding]
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