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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).
Enzymes
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
8
Cytoband
q21.3
Chromosome location (bp)
89757806 - 89791064
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Serine/threonine/tyrosine-protein kinase that plays an essential role in modulation of innate and adaptive immune responses 1,2,3,4,5,6. Acts as a key effector of NOD1 and NOD2 signaling pathways: upon activation by bacterial peptidoglycans, NOD1 and NOD2 oligomerize and recruit RIPK2 via CARD-CARD domains, leading to the formation of RIPK2 filaments 7,8,9,10,11,12,13. Once recruited, RIPK2 autophosphorylates and undergoes 'Lys-63'-linked polyubiquitination by E3 ubiquitin ligases XIAP, BIRC2 and BIRC3, as well as 'Met-1'-linked (linear) polyubiquitination by the LUBAC complex, becoming a scaffolding protein for downstream effectors 14,15,16,17,18,19. 'Met-1'-linked polyubiquitin chains attached to RIPK2 recruit IKBKG/NEMO, which undergoes 'Lys-63'-linked polyubiquitination in a RIPK2-dependent process 20,21,22,23. 'Lys-63'-linked polyubiquitin chains attached to RIPK2 serve as docking sites for TAB2 and TAB3 and mediate the recruitment of MAP3K7/TAK1 to IKBKG/NEMO, inducing subsequent activation of IKBKB/IKKB 24. In turn, NF-kappa-B is released from NF-kappa-B inhibitors and translocates into the nucleus where it activates the transcription of hundreds of genes involved in immune response, growth control, or protection against apoptosis 25. The protein kinase activity is dispensable for the NOD1 and NOD2 signaling pathways 26,27. Contributes to the tyrosine phosphorylation of the guanine exchange factor ARHGEF2 through Src tyrosine kinase leading to NF-kappa-B activation by NOD2 28. Also involved in adaptive immunity: plays a role during engagement of the T-cell receptor (TCR) in promoting BCL10 phosphorylation and subsequent NF-kappa-B activation 29. Plays a role in the inactivation of RHOA in response to NGFR signaling 30....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein contains a C-terminal caspase activation and recruitment domain (CARD), and is a component of signaling complexes in both the innate and adaptive immune pathways. It is a potent activator of NF-kappaB and inducer of apoptosis in response to various stimuli. [provided by RefSeq, Jul 2008]...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.
Enzymes ENZYME proteins Transferases Kinases TKL Ser/Thr protein kinases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0001961[positive regulation of cytokine-mediated signaling pathway] GO:0002250[adaptive immune response] GO:0002376[immune system process] GO:0002827[positive regulation of T-helper 1 type immune response] GO:0004672[protein kinase activity] GO:0004674[protein serine/threonine kinase activity] GO:0004706[JUN kinase kinase kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004715[non-membrane spanning protein tyrosine kinase activity] GO:0005102[signaling receptor binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0006468[protein phosphorylation] GO:0006915[apoptotic process] GO:0006954[inflammatory response] GO:0007165[signal transduction] GO:0007249[I-kappaB kinase/NF-kappaB signaling] GO:0007254[JNK cascade] GO:0010800[positive regulation of peptidyl-threonine phosphorylation] GO:0010942[positive regulation of cell death] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0019221[cytokine-mediated signaling pathway] GO:0030274[LIM domain binding] GO:0031349[positive regulation of defense response] GO:0031398[positive regulation of protein ubiquitination] GO:0031663[lipopolysaccharide-mediated signaling pathway] GO:0031982[vesicle] GO:0032092[positive regulation of protein binding] GO:0032103[positive regulation of response to external stimulus] GO:0032722[positive regulation of chemokine production] GO:0032727[positive regulation of interferon-alpha production] GO:0032728[positive regulation of interferon-beta production] GO:0032729[positive regulation of interferon-gamma production] GO:0032731[positive regulation of interleukin-1 beta production] GO:0032735[positive regulation of interleukin-12 production] GO:0032743[positive regulation of interleukin-2 production] GO:0032755[positive regulation of interleukin-6 production] GO:0032760[positive regulation of tumor necrosis factor production] GO:0032874[positive regulation of stress-activated MAPK cascade] GO:0032991[protein-containing complex] GO:0033080[immature T cell proliferation in thymus] GO:0033092[positive regulation of immature T cell proliferation in thymus] GO:0033138[positive regulation of peptidyl-serine phosphorylation] GO:0034134[toll-like receptor 2 signaling pathway] GO:0034142[toll-like receptor 4 signaling pathway] GO:0035739[CD4-positive, alpha-beta T cell proliferation] GO:0042098[T cell proliferation] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042981[regulation of apoptotic process] GO:0043065[positive regulation of apoptotic process] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043330[response to exogenous dsRNA] GO:0045087[innate immune response] GO:0045627[positive regulation of T-helper 1 cell differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046330[positive regulation of JNK cascade] GO:0050700[CARD domain binding] GO:0050731[positive regulation of peptidyl-tyrosine phosphorylation] GO:0050830[defense response to Gram-positive bacterium] GO:0050852[T cell receptor signaling pathway] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0051403[stress-activated MAPK cascade] GO:0060907[positive regulation of macrophage cytokine production] GO:0070371[ERK1 and ERK2 cascade] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0070427[nucleotide-binding oligomerization domain containing 1 signaling pathway] GO:0070431[nucleotide-binding oligomerization domain containing 2 signaling pathway] GO:0070555[response to interleukin-1] GO:0070671[response to interleukin-12] GO:0070673[response to interleukin-18] GO:0071222[cellular response to lipopolysaccharide] GO:0071223[cellular response to lipoteichoic acid] GO:0071224[cellular response to peptidoglycan] GO:0071225[cellular response to muramyl dipeptide] GO:0071310[cellular response to organic substance] GO:0089720[caspase binding] GO:0097202[activation of cysteine-type endopeptidase activity] GO:0098792[xenophagy] GO:0106310[protein serine kinase activity] GO:1904417[positive regulation of xenophagy] GO:2000563[positive regulation of CD4-positive, alpha-beta T cell proliferation]
The Human Protein Atlas project is funded
