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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 RAS pathway related 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
2
Cytoband
p16.1
Chromosome location (bp)
60881491 - 60931612
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Proto-oncogene that may play a role in differentiation and lymphopoiesis. NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo-or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. The NF-kappa-B heterodimer RELA/p65-c-Rel is a transcriptional activator....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a protein that belongs to the Rel homology domain/immunoglobulin-like fold, plexin, transcription factor (RHD/IPT) family. Members of this family regulate genes involved in apoptosis, inflammation, the immune response, and oncogenic processes. This proto-oncogene plays a role in the survival and proliferation of B lymphocytes. Mutation or amplification of this gene is associated with B-cell lymphomas, including Hodgkin's lymphoma. Single nucleotide polymorphisms in this gene are associated with susceptibility to ulcerative colitis and rheumatoid arthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]...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 RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Disease related genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia 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: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:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006954[inflammatory response] GO:0007249[I-kappaB kinase/NF-kappaB signaling] GO:0010605[negative regulation of macromolecule metabolic process] GO:0010629[negative regulation of gene expression] GO:0032688[negative regulation of interferon-beta production] GO:0034097[response to cytokine] GO:0038061[NIK/NF-kappaB signaling] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0045087[innate immune response] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0071159[NF-kappaB complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Immunoglobulin fold RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Disease related genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia 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: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:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006954[inflammatory response] GO:0007249[I-kappaB kinase/NF-kappaB signaling] GO:0010605[negative regulation of macromolecule metabolic process] GO:0010629[negative regulation of gene expression] GO:0032688[negative regulation of interferon-beta production] GO:0034097[response to cytokine] GO:0038061[NIK/NF-kappaB signaling] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0045087[innate immune response] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0071159[NF-kappaB complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Protein evidence (Ezkurdia et al 2014)
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GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0007249[I-kappaB kinase/NF-kappaB signaling] GO:0045893[positive regulation of DNA-templated transcription]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0007249[I-kappaB kinase/NF-kappaB signaling] GO:0045893[positive regulation of DNA-templated transcription]