mutLBSgeneDB |
Gene summary for RIPK2 |
Gene summary |
Basic gene Info. | Gene symbol | RIPK2 |
Gene name | receptor-interacting serine-threonine kinase 2 | |
Synonyms | CARD3|CARDIAK|CCK|GIG30|RICK|RIP2 | |
Cytomap | UCSC genome browser: 8q21 | |
Type of gene | protein-coding | |
RefGenes | NM_003821.5, | |
Description | CARD-carrying kinaseCARD-containing IL-1 beta ICE-kinaseCARD-containing interleukin-1 beta-converting enzyme (ICE)-associated kinaseRIP-2growth-inhibiting gene 30receptor-interacting protein (RIP)-like interacting caspase-like apoptosis regulatory pr | |
Modification date | 20141222 | |
dbXrefs | MIM : 603455 | |
HGNC : HGNC | ||
Ensembl : ENSG00000104312 | ||
HPRD : 04585 | ||
Vega : OTTHUMG00000163809 | ||
Protein | UniProt: O43353 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_RIPK2 | |
BioGPS: 8767 | ||
Pathway | NCI Pathway Interaction Database: RIPK2 | |
KEGG: RIPK2 | ||
REACTOME: RIPK2 | ||
Pathway Commons: RIPK2 | ||
Context | iHOP: RIPK2 | |
ligand binding site mutation search in PubMed: RIPK2 | ||
UCL Cancer Institute: RIPK2 | ||
Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0010800 | positive regulation of peptidyl-threonine phosphorylation | 21887730 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 21887730 | GO:0034134 | toll-like receptor 2 signaling pathway | 11894098 | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 10329646 | GO:0045087 | innate immune response | 23806334 | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 21887730 | GO:0070431 | nucleotide-binding oligomerization domain containing 2 signaling pathway | 23806334 | GO:0071225 | cellular response to muramyl dipeptide | 21887730 |
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Ligand binding site mutations for RIPK2 |
Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.) : non-synonymous mutation on LBS, Circle size denotes number of samples. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | A73 | A73D | COAD | 1 | F165 | G166C | LUSC | 1 | N151 | N151K | SKCM | 1 | I93 | I93T | UCEC | 1 |
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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Protein structure related information for RIPK2 |
Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
: nsSNV at non-LBS: nsSNV at LBS |
nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | I93 | I93T | -1.4244304 | A73 | A73D | -1.0574703 | F165 | G166C | -0.42959724 | N151 | N151K | -0.27185032 |
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
Structure image for RIPK2 from PDB |
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Differential gene expression and gene-gene network for RIPK2 |
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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Phenotype information for RIPK2 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0009324 | Colitis, Ulcerative | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for RIPK2 |
Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
Gene-centered drug-gene interaction network |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of RIPK2 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | SR8 | 1-(5-(TERT-BUTYL)ISOXAZOL-3-YL)-3-(4- (PYRIDIN-4-YLOXY) | 5ar7 | A | A73 F165 | SR8 | 1-(5-(TERT-BUTYL)ISOXAZOL-3-YL)-3-(4- (PYRIDIN-4-YLOXY) | 5ar7 | B | A73 F165 | 0LI | PONATINIB | 4c8b | B | F165 | SB2 | 4-[5-(4-FLUORO-PHENYL)-2-(4-METHANESULFINYL-PHENYL)-3H-IMIDAZOL-4-YL]-PYRIDINE | 5ar4 | A | I93 | SB2 | 4-[5-(4-FLUORO-PHENYL)-2-(4-METHANESULFINYL-PHENYL)-3H-IMIDAZOL-4-YL]-PYRIDINE | 5ar4 | B | I93 | IQ7 | 2-(2-(4-CHLOROPHENYL)-1H-IMIDAZOL-5-YL)-N,1- BIS(2-METHOXYETHYL)-1H-BENZO[D]IMIDAZOLE-5- CARBOXAMIDE | 5ar5 | A | I93 | IQ7 | 2-(2-(4-CHLOROPHENYL)-1H-IMIDAZOL-5-YL)-N,1- BIS(2-METHOXYETHYL)-1H-BENZO[D]IMIDAZOLE-5- CARBOXAMIDE | 5ar5 | B | I93 | 0LI | PONATINIB | 4c8b | A | I93 F165 | XYW | 2,6-BIS(FLUORANYL)-N-[3-[5-[2-[(3- METHYLSULFONYLPHENYL)AMINO]PYRIMIDIN-4-YL]-2-MORPHOLIN 4-YL-1,3-THIAZOL-4-YL]PHENYL] BENZENESULFONAMIDE | 5ar8 | A | I93 F165 | XYW | 2,6-BIS(FLUORANYL)-N-[3-[5-[2-[(3- METHYLSULFONYLPHENYL)AMINO]PYRIMIDIN-4-YL]-2-MORPHOLIN 4-YL-1,3-THIAZOL-4-YL]PHENYL] BENZENESULFONAMIDE | 5ar8 | B | I93 F165 | ACP | ADENOSINE 5'-[BETA,GAMMA-METHYLENE]TRIPHOSPHATE | 5ar3 | A | N151 | MG | MAGNESIUM(2+) | 5ar3 | A | N151 | ACP | ADENOSINE 5'-[BETA,GAMMA-METHYLENE]TRIPHOSPHATE | 5ar3 | B | N151 | MG | MAGNESIUM(2+) | 5ar3 | B | N151 |
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Conservation information for LBS of RIPK2 |
Multiple alignments for O43353 in multiple species |
LBS | AA sequence | # species | Species | A163 | FHVKIADFGLS | 3 | Homo sapiens, Mus musculus, Bos taurus | A28 | YLSRGASGTVS | 3 | Homo sapiens, Mus musculus, Bos taurus | A45 | WRVQVAVKHLH | 2 | Homo sapiens, Bos taurus | A45 | WRVRVAVKHLH | 1 | Mus musculus | A73 | EILHKARFSYI | 3 | Homo sapiens, Mus musculus, Bos taurus | D164 | HVKIADFGLSK | 3 | Homo sapiens, Mus musculus, Bos taurus | E105 | NGSLNELLHRK | 3 | Homo sapiens, Mus musculus, Bos taurus | E112 | LHRKTEYPDVA | 1 | Homo sapiens | E112 | LHRKTEYPDIA | 1 | Mus musculus | E112 | LHRKIEYPDVP | 1 | Bos taurus | E66 | KDVLREAEILH | 1 | Homo sapiens | E66 | NDILREAEILH | 1 | Mus musculus | E66 | NDVLREAEILH | 1 | Bos taurus | E96 | LGIVTEYMPNG | 3 | Homo sapiens, Mus musculus, Bos taurus | F165 | VKIADFGLSKW | 3 | Homo sapiens, Mus musculus, Bos taurus | G101 | EYMPNGSLNEL | 3 | Homo sapiens, Mus musculus, Bos taurus | G27 | RYLSRGASGTV | 2 | Homo sapiens, Bos taurus | G27 | HYLSRGASGTV | 1 | Mus musculus | G30 | SRGASGTVSSA | 3 | Homo sapiens, Mus musculus, Bos taurus | H144 | NPPLLHHDLKT | 2 | Mus musculus, Bos taurus | H144 | TPPLLHHDLKT | 1 | Homo sapiens | I162 | EFHVKIADFGL | 3 | Homo sapiens, Mus musculus, Bos taurus | I69 | LREAEILHKAR | 3 | Homo sapiens, Mus musculus, Bos taurus | I78 | ARFSYILPILG | 3 | Homo sapiens, Mus musculus, Bos taurus | I81 | SYILPILGICN | 3 | Homo sapiens, Mus musculus, Bos taurus | I93 | PEFLGIVTEYM | 3 | Homo sapiens, Mus musculus, Bos taurus | K47 | VQVAVKHLHIH | 2 | Homo sapiens, Bos taurus | K47 | VRVAVKHLHIH | 1 | Mus musculus | L143 | MNPPLLHHDLK | 2 | Mus musculus, Bos taurus | L143 | MTPPLLHHDLK | 1 | Homo sapiens | L153 | KTQNILLDNEF | 3 | Homo sapiens, Mus musculus, Bos taurus | L24 | ADLRYLSRGAS | 2 | Homo sapiens, Bos taurus | L24 | ADLHYLSRGAS | 1 | Mus musculus | L70 | REAEILHKARF | 3 | Homo sapiens, Mus musculus, Bos taurus | L79 | RFSYILPILGI | 3 | Homo sapiens, Mus musculus, Bos taurus | M98 | IVTEYMPNGSL | 3 | Homo sapiens, Mus musculus, Bos taurus | N151 | DLKTQNILLDN | 3 | Homo sapiens, Mus musculus, Bos taurus | P114 | RKTEYPDVAWP | 1 | Homo sapiens | P114 | RKTEYPDIAWP | 1 | Mus musculus | P114 | RKIEYPDVPWP | 1 | Bos taurus | Q150 | HDLKTQNILLD | 3 | Homo sapiens, Mus musculus, Bos taurus | R22 | KLADLRYLSRG | 2 | Homo sapiens, Bos taurus | R22 | KLADLHYLSRG | 1 | Mus musculus | R26 | LRYLSRGASGT | 2 | Homo sapiens, Bos taurus | R26 | LHYLSRGASGT | 1 | Mus musculus | S25 | DLRYLSRGASG | 2 | Homo sapiens, Bos taurus | S25 | DLHYLSRGASG | 1 | Mus musculus | S29 | LSRGASGTVSS | 3 | Homo sapiens, Mus musculus, Bos taurus | T95 | FLGIVTEYMPN | 3 | Homo sapiens, Mus musculus, Bos taurus | V32 | GASGTVSSARH | 3 | Homo sapiens, Mus musculus, Bos taurus | V46 | RVQVAVKHLHI | 2 | Homo sapiens, Bos taurus | V46 | RVRVAVKHLHI | 1 | Mus musculus | Y23 | LADLRYLSRGA | 2 | Homo sapiens, Bos taurus | Y23 | LADLHYLSRGA | 1 | Mus musculus | Y97 | GIVTEYMPNGS | 3 | Homo sapiens, Mus musculus, Bos taurus |
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