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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 Enzymes FDA approved drug targets Human disease related genes Transporters
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
7
Cytoband
q34
Chromosome location (bp)
140719327 - 140924929
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus (Probable). Phosphorylates MAP2K1, and thereby activates the MAP kinase signal transduction pathway 1,2. Phosphorylates PFKFB2 3. May play a role in the postsynaptic responses of hippocampal neurons 4....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]...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.
A0A2U3TZI2 [Direct mapping] Non-specific serine/threonine protein kinase
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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 Other Mutations COSMIC Missense Mutations COSMIC Translocations Human disease related genes Cancers Cancers of the digestive system Cancers of the lung and pleura Skin cancers Cancers of endocrine organs Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations 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 Other Mutations COSMIC Missense Mutations COSMIC Translocations Human disease related genes Cancers Cancers of the digestive system Cancers of the lung and pleura Skin cancers Cancers of endocrine organs Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
H7C560 [Direct mapping] Non-specific serine/threonine protein kinase
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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 Other Mutations COSMIC Missense Mutations COSMIC Translocations Human disease related genes Cancers Cancers of the digestive system Cancers of the lung and pleura Skin cancers Cancers of endocrine organs Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
A0A2R8Y8E0 [Direct mapping] Non-specific serine/threonine protein kinase
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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 Other Mutations COSMIC Missense Mutations COSMIC Translocations Human disease related genes Cancers Cancers of the digestive system Cancers of the lung and pleura Skin cancers Cancers of endocrine organs Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Kinases TKL Ser/Thr protein kinases Transporters Accessory Factors Involved in Transport 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 Other Mutations COSMIC Missense Mutations COSMIC Translocations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Cancers of the digestive system Cancers of the lung and pleura Skin cancers Cancers of endocrine organs Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations 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:0000165[MAPK cascade] GO:0000166[nucleotide binding] GO:0001934[positive regulation of protein phosphorylation] GO:0002318[myeloid progenitor cell differentiation] GO:0003824[catalytic activity] GO:0004672[protein kinase activity] GO:0004674[protein serine/threonine kinase activity] GO:0004708[MAP kinase kinase activity] GO:0004709[MAP kinase kinase kinase activity] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006468[protein phosphorylation] GO:0007165[signal transduction] GO:0007173[epidermal growth factor receptor signaling pathway] GO:0008152[metabolic process] GO:0008542[visual learning] GO:0009887[animal organ morphogenesis] GO:0010628[positive regulation of gene expression] GO:0010764[negative regulation of fibroblast migration] GO:0010828[positive regulation of glucose transmembrane transport] GO:0016020[membrane] GO:0016079[synaptic vesicle exocytosis] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0030154[cell differentiation] GO:0030878[thyroid gland development] GO:0033077[T cell differentiation in thymus] GO:0033138[positive regulation of peptidyl-serine phosphorylation] GO:0034446[substrate adhesion-dependent cell spreading] GO:0035019[somatic stem cell population maintenance] GO:0036211[protein modification process] GO:0042127[regulation of cell population proliferation] GO:0042802[identical protein binding] GO:0043005[neuron projection] GO:0043066[negative regulation of apoptotic process] GO:0043149[stress fiber assembly] GO:0043231[intracellular membrane-bounded organelle] GO:0043367[CD4-positive, alpha-beta T cell differentiation] GO:0043368[positive T cell selection] GO:0043369[CD4-positive or CD8-positive, alpha-beta T cell lineage commitment] GO:0043524[negative regulation of neuron apoptotic process] GO:0044297[cell body] GO:0045580[regulation of T cell differentiation] GO:0046632[alpha-beta T cell differentiation] GO:0046872[metal ion binding] GO:0048538[thymus development] GO:0048679[regulation of axon regeneration] GO:0048680[positive regulation of axon regeneration] GO:0050772[positive regulation of axonogenesis] GO:0050852[T cell receptor signaling pathway] GO:0051496[positive regulation of stress fiber assembly] GO:0060291[long-term synaptic potentiation] GO:0060323[head morphogenesis] GO:0060324[face development] GO:0070371[ERK1 and ERK2 cascade] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0070413[trehalose metabolism in response to stress] GO:0071277[cellular response to calcium ion] GO:0071466[cellular response to xenobiotic stimulus] GO:0072577[endothelial cell apoptotic process] GO:0090150[establishment of protein localization to membrane] GO:0097110[scaffold protein binding] GO:0098793[presynapse] GO:0106310[protein serine kinase activity] GO:1900026[positive regulation of substrate adhesion-dependent cell spreading] GO:2000301[negative regulation of synaptic vesicle exocytosis] GO:2000352[negative regulation of endothelial cell apoptotic process]
The Human Protein Atlas project is funded
