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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
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
11
Cytoband
q13.1
Chromosome location (bp)
64803510 - 64811294
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and represses telomerase expression. Plays a role in TGFB1-mediated inhibition of cell-proliferation, possibly regulating SMAD3 transcriptional activity. Represses JUND-mediated transcriptional activation on AP1 sites, as well as that mediated by NFKB subunit RELA. Positively regulates HOXC8 and HOXC6 gene expression. May be involved in normal hematopoiesis through the activation of HOXA9 expression (By similarity). May be involved in DNA repair....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Chromatin regulator, 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
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes menin, a tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. Menin is a scaffold protein that functions in histone modification and epigenetic gene regulation. It is thought to regulate several pathways and processes by altering chromatin structure through the modification of histones. [provided by RefSeq, May 2019]...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.
SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Cancers of eye, brain, and central nervous system Cancers of endocrine organs Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Parathyroid diseases Adrenal gland diseases Other endocrine and metabolic 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:0000165[MAPK cascade] GO:0000400[four-way junction DNA binding] GO:0000403[Y-form DNA binding] GO:0000781[chromosome, telomeric region] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0001933[negative regulation of protein phosphorylation] GO:0002076[osteoblast development] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003690[double-stranded DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005788[endoplasmic reticulum lumen] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006325[chromatin organization] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006974[cellular response to DNA damage stimulus] GO:0008285[negative regulation of cell population proliferation] GO:0009411[response to UV] GO:0010332[response to gamma radiation] GO:0016363[nuclear matrix] GO:0017053[transcription repressor complex] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0030674[protein-macromolecule adaptor activity] GO:0032154[cleavage furrow] GO:0032991[protein-containing complex] GO:0035097[histone methyltransferase complex] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0044665[MLL1/2 complex] GO:0045064[T-helper 2 cell differentiation] GO:0045668[negative regulation of osteoblast differentiation] GO:0045736[negative regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0045786[negative regulation of cell cycle] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046329[negative regulation of JNK cascade] GO:0047485[protein N-terminus binding] GO:0051219[phosphoprotein binding] GO:0051568[histone H3-K4 methylation] GO:0051974[negative regulation of telomerase activity] GO:0070412[R-SMAD binding] GO:0071339[MLL1 complex]
SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Cancers of eye, brain, and central nervous system Cancers of endocrine organs Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Parathyroid diseases Adrenal gland diseases Other endocrine and metabolic 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:0000165[MAPK cascade] GO:0000400[four-way junction DNA binding] GO:0000403[Y-form DNA binding] GO:0000781[chromosome, telomeric region] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0001933[negative regulation of protein phosphorylation] GO:0002076[osteoblast development] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003690[double-stranded DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005788[endoplasmic reticulum lumen] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006325[chromatin organization] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006974[cellular response to DNA damage stimulus] GO:0008285[negative regulation of cell population proliferation] GO:0009411[response to UV] GO:0010332[response to gamma radiation] GO:0016363[nuclear matrix] GO:0017053[transcription repressor complex] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0030674[protein-macromolecule adaptor activity] GO:0032154[cleavage furrow] GO:0032991[protein-containing complex] GO:0035097[histone methyltransferase complex] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0044665[MLL1/2 complex] GO:0045064[T-helper 2 cell differentiation] GO:0045668[negative regulation of osteoblast differentiation] GO:0045736[negative regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0045786[negative regulation of cell cycle] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046329[negative regulation of JNK cascade] GO:0047485[protein N-terminus binding] GO:0051219[phosphoprotein binding] GO:0051568[histone H3-K4 methylation] GO:0051974[negative regulation of telomerase activity] GO:0070412[R-SMAD binding] GO:0071339[MLL1 complex]
SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Cancers of eye, brain, and central nervous system Cancers of endocrine organs Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Parathyroid diseases Adrenal gland diseases Other endocrine and metabolic 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:0000165[MAPK cascade] GO:0000400[four-way junction DNA binding] GO:0000403[Y-form DNA binding] GO:0000781[chromosome, telomeric region] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0001933[negative regulation of protein phosphorylation] GO:0002076[osteoblast development] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003690[double-stranded DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005788[endoplasmic reticulum lumen] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006325[chromatin organization] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006974[cellular response to DNA damage stimulus] GO:0008285[negative regulation of cell population proliferation] GO:0009411[response to UV] GO:0010332[response to gamma radiation] GO:0016363[nuclear matrix] GO:0017053[transcription repressor complex] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0030674[protein-macromolecule adaptor activity] GO:0032154[cleavage furrow] GO:0032991[protein-containing complex] GO:0035097[histone methyltransferase complex] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0044665[MLL1/2 complex] GO:0045064[T-helper 2 cell differentiation] GO:0045668[negative regulation of osteoblast differentiation] GO:0045736[negative regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0045786[negative regulation of cell cycle] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046329[negative regulation of JNK cascade] GO:0047485[protein N-terminus binding] GO:0051219[phosphoprotein binding] GO:0051568[histone H3-K4 methylation] GO:0051974[negative regulation of telomerase activity] GO:0070412[R-SMAD binding] GO:0071339[MLL1 complex]
SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of eye, brain, and central nervous system Cancers of endocrine organs Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Parathyroid diseases Adrenal gland diseases Other endocrine and metabolic diseases Protein evidence (Ezkurdia et al 2014)
SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Cancers of eye, brain, and central nervous system Cancers of endocrine organs Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Parathyroid diseases Adrenal gland diseases Other endocrine and metabolic 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:0000165[MAPK cascade] GO:0000400[four-way junction DNA binding] GO:0000403[Y-form DNA binding] GO:0000781[chromosome, telomeric region] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0001933[negative regulation of protein phosphorylation] GO:0002076[osteoblast development] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003690[double-stranded DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005788[endoplasmic reticulum lumen] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006325[chromatin organization] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006974[cellular response to DNA damage stimulus] GO:0008285[negative regulation of cell population proliferation] GO:0009411[response to UV] GO:0010332[response to gamma radiation] GO:0016363[nuclear matrix] GO:0017053[transcription repressor complex] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0030674[protein-macromolecule adaptor activity] GO:0032154[cleavage furrow] GO:0032991[protein-containing complex] GO:0035097[histone methyltransferase complex] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0044665[MLL1/2 complex] GO:0045064[T-helper 2 cell differentiation] GO:0045668[negative regulation of osteoblast differentiation] GO:0045736[negative regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0045786[negative regulation of cell cycle] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046329[negative regulation of JNK cascade] GO:0047485[protein N-terminus binding] GO:0051219[phosphoprotein binding] GO:0051568[histone H3-K4 methylation] GO:0051974[negative regulation of telomerase activity] GO:0070412[R-SMAD binding] GO:0071339[MLL1 complex]
SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Cancers of eye, brain, and central nervous system Cancers of endocrine organs Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Parathyroid diseases Adrenal gland diseases Other endocrine and metabolic 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:0000165[MAPK cascade] GO:0000400[four-way junction DNA binding] GO:0000403[Y-form DNA binding] GO:0000781[chromosome, telomeric region] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0001933[negative regulation of protein phosphorylation] GO:0002076[osteoblast development] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003690[double-stranded DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005788[endoplasmic reticulum lumen] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006325[chromatin organization] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006974[cellular response to DNA damage stimulus] GO:0008285[negative regulation of cell population proliferation] GO:0009411[response to UV] GO:0010332[response to gamma radiation] GO:0016363[nuclear matrix] GO:0017053[transcription repressor complex] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0030674[protein-macromolecule adaptor activity] GO:0032154[cleavage furrow] GO:0032991[protein-containing complex] GO:0035097[histone methyltransferase complex] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0044665[MLL1/2 complex] GO:0045064[T-helper 2 cell differentiation] GO:0045668[negative regulation of osteoblast differentiation] GO:0045736[negative regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0045786[negative regulation of cell cycle] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046329[negative regulation of JNK cascade] GO:0047485[protein N-terminus binding] GO:0051219[phosphoprotein binding] GO:0051568[histone H3-K4 methylation] GO:0051974[negative regulation of telomerase activity] GO:0070412[R-SMAD binding] GO:0071339[MLL1 complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of eye, brain, and central nervous system Cancers of endocrine organs Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Parathyroid diseases Adrenal gland diseases Other endocrine and metabolic diseases Protein evidence (Ezkurdia et al 2014)
Phobius predicted membrane proteins SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of eye, brain, and central nervous system Cancers of endocrine organs Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Parathyroid diseases Adrenal gland diseases Other endocrine and metabolic diseases Protein evidence (Ezkurdia et al 2014)
Phobius predicted membrane proteins SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of eye, brain, and central nervous system Cancers of endocrine organs Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Parathyroid diseases Adrenal gland diseases Other endocrine and metabolic diseases Protein evidence (Ezkurdia et al 2014)
Phobius predicted membrane proteins SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of eye, brain, and central nervous system Cancers of endocrine organs Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Parathyroid diseases Adrenal gland diseases Other endocrine and metabolic diseases Protein evidence (Ezkurdia et al 2014)
SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Cancers of eye, brain, and central nervous system Cancers of endocrine organs Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Parathyroid diseases Adrenal gland diseases Other endocrine and metabolic 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:0000165[MAPK cascade] GO:0000400[four-way junction DNA binding] GO:0000403[Y-form DNA binding] GO:0000781[chromosome, telomeric region] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0001933[negative regulation of protein phosphorylation] GO:0002076[osteoblast development] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003690[double-stranded DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005788[endoplasmic reticulum lumen] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006325[chromatin organization] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006974[cellular response to DNA damage stimulus] GO:0008285[negative regulation of cell population proliferation] GO:0009411[response to UV] GO:0010332[response to gamma radiation] GO:0016363[nuclear matrix] GO:0017053[transcription repressor complex] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0030674[protein-macromolecule adaptor activity] GO:0032154[cleavage furrow] GO:0032991[protein-containing complex] GO:0035097[histone methyltransferase complex] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0044665[MLL1/2 complex] GO:0045064[T-helper 2 cell differentiation] GO:0045668[negative regulation of osteoblast differentiation] GO:0045736[negative regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0045786[negative regulation of cell cycle] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046329[negative regulation of JNK cascade] GO:0047485[protein N-terminus binding] GO:0051219[phosphoprotein binding] GO:0051568[histone H3-K4 methylation] GO:0051974[negative regulation of telomerase activity] GO:0070412[R-SMAD binding] GO:0071339[MLL1 complex]
SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Cancers of eye, brain, and central nervous system Cancers of endocrine organs Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Parathyroid diseases Adrenal gland diseases Other endocrine and metabolic 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:0000165[MAPK cascade] GO:0000278[mitotic cell cycle] GO:0000400[four-way junction DNA binding] GO:0000403[Y-form DNA binding] GO:0000781[chromosome, telomeric region] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0001933[negative regulation of protein phosphorylation] GO:0002076[osteoblast development] GO:0003309[type B pancreatic cell differentiation] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003690[double-stranded DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005788[endoplasmic reticulum lumen] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006325[chromatin organization] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006974[cellular response to DNA damage stimulus] GO:0007420[brain development] GO:0008285[negative regulation of cell population proliferation] GO:0009411[response to UV] GO:0010332[response to gamma radiation] GO:0010812[negative regulation of cell-substrate adhesion] GO:0016363[nuclear matrix] GO:0017053[transcription repressor complex] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0030674[protein-macromolecule adaptor activity] GO:0032154[cleavage furrow] GO:0032925[regulation of activin receptor signaling pathway] GO:0032991[protein-containing complex] GO:0035097[histone methyltransferase complex] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0044665[MLL1/2 complex] GO:0045064[T-helper 2 cell differentiation] GO:0045668[negative regulation of osteoblast differentiation] GO:0045736[negative regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0045786[negative regulation of cell cycle] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046329[negative regulation of JNK cascade] GO:0046697[decidualization] GO:0047485[protein N-terminus binding] GO:0050680[negative regulation of epithelial cell proliferation] GO:0051219[phosphoprotein binding] GO:0051568[histone H3-K4 methylation] GO:0051974[negative regulation of telomerase activity] GO:0061469[regulation of type B pancreatic cell proliferation] GO:0070412[R-SMAD binding] GO:0071333[cellular response to glucose stimulus] GO:0071339[MLL1 complex] GO:0071375[cellular response to peptide hormone stimulus] GO:0071559[response to transforming growth factor beta] GO:1902807[negative regulation of cell cycle G1/S phase transition]
SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of eye, brain, and central nervous system Cancers of endocrine organs Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Parathyroid diseases Adrenal gland diseases Other endocrine and metabolic diseases Protein evidence (Ezkurdia et al 2014)
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