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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 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
6
Cytoband
p21.1
Chromosome location (bp)
45328157 - 45664349
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis 1,2,3. Essential for the maturation of osteoblasts and both intramembranous and endochondral ossification. CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, osteocalcin, osteopontin, bone sialoprotein, alpha 1(I) collagen, LCK, IL-3 and GM-CSF promoters. In osteoblasts, supports transcription activation: synergizes with SPEN/MINT to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Inhibits KAT6B-dependent transcriptional activation....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.
This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Two regions of potential trinucleotide repeat expansions are present in the N-terminal region of the encoded protein, and these and other mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Jul 2016]...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 Immunoglobulin fold Disease related genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Mapped to neXtProt neXtProt - Evidence at protein level
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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:0001503[ossification] GO:0001649[osteoblast differentiation] GO:0002062[chondrocyte 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:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0030097[hemopoiesis] GO:0030154[cell differentiation] GO:0030182[neuron differentiation] GO:0030509[BMP signaling pathway] GO:0045595[regulation of cell differentiation] GO:0045669[positive regulation of osteoblast differentiation] 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:0051094[positive regulation of developmental process] GO:0060395[SMAD protein signal transduction] GO:0071773[cellular response to BMP stimulus] GO:1901522[positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Immunoglobulin fold Disease related genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim 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:0001503[ossification] GO:0001649[osteoblast differentiation] GO:0002062[chondrocyte 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:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0030097[hemopoiesis] GO:0030154[cell differentiation] GO:0030182[neuron differentiation] GO:0030509[BMP signaling pathway] GO:0045595[regulation of cell differentiation] GO:0045669[positive regulation of osteoblast differentiation] 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:0051094[positive regulation of developmental process] GO:0060395[SMAD protein signal transduction] GO:0071773[cellular response to BMP stimulus] GO:1901522[positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Immunoglobulin fold Disease related genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Mapped to neXtProt neXtProt - Evidence at protein level
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:0001503[ossification] GO:0001649[osteoblast differentiation] GO:0002062[chondrocyte 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:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0030097[hemopoiesis] GO:0030154[cell differentiation] GO:0030182[neuron differentiation] GO:0030509[BMP signaling pathway] GO:0045595[regulation of cell differentiation] GO:0045669[positive regulation of osteoblast differentiation] 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:0051094[positive regulation of developmental process] GO:0060395[SMAD protein signal transduction] GO:0071773[cellular response to BMP stimulus] GO:1901522[positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Immunoglobulin fold Disease related genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Mapped to neXtProt neXtProt - Evidence at protein level
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:0001503[ossification] GO:0001649[osteoblast differentiation] GO:0002062[chondrocyte 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:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0030097[hemopoiesis] GO:0030154[cell differentiation] GO:0030182[neuron differentiation] GO:0030509[BMP signaling pathway] GO:0045595[regulation of cell differentiation] GO:0045669[positive regulation of osteoblast differentiation] 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:0051094[positive regulation of developmental process] GO:0060395[SMAD protein signal transduction] GO:0071773[cellular response to BMP stimulus] GO:1901522[positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system
Show all
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: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 Transcription factors Immunoglobulin fold Disease related genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region 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:0000987[cis-regulatory region sequence-specific DNA binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001501[skeletal system development] GO:0001503[ossification] GO:0001649[osteoblast differentiation] GO:0001958[endochondral ossification] GO:0002051[osteoblast fate commitment] GO:0002062[chondrocyte differentiation] GO:0002063[chondrocyte development] GO:0002076[osteoblast development] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007224[smoothened signaling pathway] GO:0008283[cell population proliferation] GO:0008284[positive regulation of cell population proliferation] GO:0010467[gene expression] GO:0010468[regulation of gene expression] GO:0010628[positive regulation of gene expression] GO:0019211[phosphatase activator activity] GO:0019904[protein domain specific binding] GO:0030097[hemopoiesis] GO:0030154[cell differentiation] GO:0030182[neuron differentiation] GO:0030217[T cell differentiation] GO:0030278[regulation of ossification] GO:0030509[BMP signaling pathway] GO:0031490[chromatin DNA binding] GO:0032332[positive regulation of chondrocyte differentiation] GO:0033591[response to L-ascorbic acid] GO:0035115[embryonic forelimb morphogenesis] GO:0036076[ligamentous ossification] GO:0040036[regulation of fibroblast growth factor receptor signaling pathway] GO:0042475[odontogenesis of dentin-containing tooth] GO:0042487[regulation of odontogenesis of dentin-containing tooth] GO:0043425[bHLH transcription factor binding] GO:0045595[regulation of cell differentiation] GO:0045667[regulation of osteoblast differentiation] GO:0045669[positive regulation of osteoblast differentiation] GO:0045879[negative regulation of smoothened signaling pathway] 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:0048469[cell maturation] GO:0048701[embryonic cranial skeleton morphogenesis] GO:0048705[skeletal system morphogenesis] GO:0048863[stem cell differentiation] GO:0050673[epithelial cell proliferation] GO:0050679[positive regulation of epithelial cell proliferation] GO:0051094[positive regulation of developmental process] GO:0060395[SMAD protein signal transduction] GO:0071773[cellular response to BMP stimulus] GO:0072089[stem cell proliferation] GO:0140297[DNA-binding transcription factor binding] GO:0140537[transcription regulator activator activity] GO:1901522[positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus] GO:1904383[response to sodium phosphate] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000648[positive regulation of stem cell proliferation]
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