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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.
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2
Protein classi
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Plasma proteins
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
q24.1
Chromosome location (bp)
139371807 - 139374648
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcriptional coactivator of the p300/CBP-mediated transcription complex. Acts as a bridge, linking TFAP2 transcription factors and the p300/CBP transcriptional coactivator complex in order to stimulate TFAP2-mediated transcriptional activation. Positively regulates TGF-beta signaling through its association with the SMAD/p300/CBP-mediated transcriptional coactivator complex. Stimulates the peroxisome proliferator-activated receptors PPARA transcriptional activity. Enhances estrogen-dependent transactivation mediated by estrogen receptors. Acts also as a transcriptional corepressor; interferes with the binding of the transcription factors HIF1A or STAT2 and the p300/CBP transcriptional coactivator complex. Participates in sex determination and early gonad development by stimulating transcription activation of SRY. Plays a role in controlling left-right patterning during embryogenesis; potentiates transcriptional activation of NODAL-mediated gene transcription in the left lateral plate mesoderm (LPM). Plays an essential role in differentiation of the adrenal cortex from the adrenogonadal primordium (AGP); stimulates WT1-mediated transcription activation thereby up-regulating the nuclear hormone receptor NR5A1 promoter activity. Associates with chromatin to the PITX2 P1 promoter region....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, Developmental protein, Repressor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
The protein encoded by this gene inhibits transactivation of HIF1A-induced genes by competing with binding of hypoxia-inducible factor 1-alpha to p300-CH1. Mutations in this gene are a cause of cardiac septal defects. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]...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 Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Congenital malformations Congenital malformations of the circulatory system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0001568[blood vessel development] GO:0001570[vasculogenesis] GO:0001666[response to hypoxia] GO:0001701[in utero embryonic development] GO:0001829[trophectodermal cell differentiation] GO:0001841[neural tube formation] GO:0001843[neural tube closure] GO:0001889[liver development] GO:0001892[embryonic placenta development] GO:0001944[vasculature development] GO:0001947[heart looping] GO:0002089[lens morphogenesis in camera-type eye] GO:0002244[hematopoietic progenitor cell differentiation] GO:0002521[leukocyte differentiation] GO:0003151[outflow tract morphogenesis] GO:0003156[regulation of animal organ formation] GO:0003197[endocardial cushion development] GO:0003281[ventricular septum development] GO:0003682[chromatin binding] GO:0003713[transcription coactivator activity] GO:0003714[transcription corepressor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007368[determination of left/right symmetry] GO:0007417[central nervous system development] GO:0007422[peripheral nervous system development] GO:0007507[heart development] GO:0007530[sex determination] GO:0008283[cell population proliferation] GO:0008584[male gonad development] GO:0009612[response to mechanical stimulus] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0019904[protein domain specific binding] GO:0021602[cranial nerve morphogenesis] GO:0022409[positive regulation of cell-cell adhesion] GO:0030154[cell differentiation] GO:0030325[adrenal gland development] GO:0030336[negative regulation of cell migration] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0030851[granulocyte differentiation] GO:0032991[protein-containing complex] GO:0034405[response to fluid shear stress] GO:0035035[histone acetyltransferase binding] GO:0035360[positive regulation of peroxisome proliferator activated receptor signaling pathway] GO:0035802[adrenal cortex formation] GO:0035914[skeletal muscle cell differentiation] GO:0043066[negative regulation of apoptotic process] GO:0043627[response to estrogen] GO:0045787[positive regulation of cell cycle] 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:0046332[SMAD binding] GO:0046697[decidualization] GO:0048536[spleen development] GO:0048538[thymus development] GO:0048596[embryonic camera-type eye morphogenesis] GO:0048821[erythrocyte development] GO:0050693[LBD domain binding] GO:0060044[negative regulation of cardiac muscle cell proliferation] GO:0060136[embryonic process involved in female pregnancy] GO:0060349[bone morphogenesis] GO:0060411[cardiac septum morphogenesis] GO:0060412[ventricular septum morphogenesis] GO:0060971[embryonic heart tube left/right pattern formation] GO:0060972[left/right pattern formation] GO:0061156[pulmonary artery morphogenesis] GO:0061308[cardiac neural crest cell development involved in heart development] GO:0061371[determination of heart left/right asymmetry] GO:0061428[negative regulation of transcription from RNA polymerase II promoter in response to hypoxia] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070986[left/right axis specification] GO:0071363[cellular response to growth factor stimulus] GO:0090398[cellular senescence] GO:0140677[molecular function activator activity] GO:1900164[nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry] GO:2000020[positive regulation of male gonad development]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Congenital malformations Congenital malformations of the circulatory system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0001666[response to hypoxia] GO:0001889[liver development] GO:0003151[outflow tract morphogenesis] GO:0003156[regulation of animal organ formation] GO:0003682[chromatin binding] GO:0003713[transcription coactivator activity] GO:0003714[transcription corepressor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0007368[determination of left/right symmetry] GO:0007507[heart development] GO:0007530[sex determination] GO:0008283[cell population proliferation] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0019904[protein domain specific binding] GO:0022409[positive regulation of cell-cell adhesion] GO:0030154[cell differentiation] GO:0030336[negative regulation of cell migration] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0032991[protein-containing complex] GO:0034405[response to fluid shear stress] GO:0035035[histone acetyltransferase binding] GO:0035360[positive regulation of peroxisome proliferator activated receptor signaling pathway] GO:0035802[adrenal cortex formation] GO:0043066[negative regulation of apoptotic process] GO:0043627[response to estrogen] GO:0045787[positive regulation of cell cycle] 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:0048536[spleen development] GO:0050693[LBD domain binding] GO:0060412[ventricular septum morphogenesis] GO:0060971[embryonic heart tube left/right pattern formation] GO:0060972[left/right pattern formation] GO:0061428[negative regulation of transcription from RNA polymerase II promoter in response to hypoxia] GO:0070986[left/right axis specification] GO:0140677[molecular function activator activity] GO:1900164[nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry] GO:2000020[positive regulation of male gonad development]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases Congenital malformations Congenital malformations of the circulatory system
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Congenital malformations Congenital malformations of the circulatory system Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0001666[response to hypoxia] GO:0001889[liver development] GO:0003151[outflow tract morphogenesis] GO:0003156[regulation of animal organ formation] GO:0003682[chromatin binding] GO:0003713[transcription coactivator activity] GO:0003714[transcription corepressor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0007368[determination of left/right symmetry] GO:0007507[heart development] GO:0007530[sex determination] GO:0008283[cell population proliferation] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0019904[protein domain specific binding] GO:0022409[positive regulation of cell-cell adhesion] GO:0030154[cell differentiation] GO:0030336[negative regulation of cell migration] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0032991[protein-containing complex] GO:0034405[response to fluid shear stress] GO:0035035[histone acetyltransferase binding] GO:0035360[positive regulation of peroxisome proliferator activated receptor signaling pathway] GO:0035802[adrenal cortex formation] GO:0043066[negative regulation of apoptotic process] GO:0043627[response to estrogen] GO:0045787[positive regulation of cell cycle] 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:0048536[spleen development] GO:0050693[LBD domain binding] GO:0060412[ventricular septum morphogenesis] GO:0060971[embryonic heart tube left/right pattern formation] GO:0060972[left/right pattern formation] GO:0061428[negative regulation of transcription from RNA polymerase II promoter in response to hypoxia] GO:0070986[left/right axis specification] GO:0140677[molecular function activator activity] GO:1900164[nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry] GO:2000020[positive regulation of male gonad development]
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