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mutLBSgeneDB |
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| Gene summary for AIM2 |
 Gene summary |
| Basic gene Info. | Gene symbol | AIM2 |
| Gene name | absent in melanoma 2 | |
| Synonyms | PYHIN4 | |
| Cytomap | UCSC genome browser: 1q22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004833.1, | |
| Description | interferon-inducible protein AIM2 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 604578 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000163568 | ||
| HPRD : 05202 | ||
| Vega : OTTHUMG00000037183 | ||
| Protein | UniProt: O14862 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_AIM2 | |
| BioGPS: 9447 | ||
| Pathway | NCI Pathway Interaction Database: AIM2 | |
| KEGG: AIM2 | ||
| REACTOME: AIM2 | ||
| Pathway Commons: AIM2 | ||
| Context | iHOP: AIM2 | |
| ligand binding site mutation search in PubMed: AIM2 | ||
| UCL Cancer Institute: AIM2 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0002218 | activation of innate immune response | 19158675 | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 16432157 | GO:0032461 | positive regulation of protein oligomerization | 19158676 | GO:0032731 | positive regulation of interleukin-1 beta production | 19158675 | GO:0033209 | tumor necrosis factor-mediated signaling pathway | 16432157 | GO:0035690 | cellular response to drug | 19158679 | GO:0050718 | positive regulation of interleukin-1 beta secretion | 19158679 | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 19158675 | GO:0070269 | pyroptosis | 19158675 | GO:2001056 | positive regulation of cysteine-type endopeptidase activity | 19158676 |
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| Ligand binding site mutations for AIM2 |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | K204 | K204N | BLCA | 1 | K198 | K198R | COAD | 1 | I337,K335 | V336F | LUAD | 1 | K204 | P203T | LUAD | 1 | K309 | G307R | SKCM | 1 | K198 | K200T | 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 AIM2 |
| 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 |
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| 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 | K204 | P203T | -1.4069629 | K309 | G307R | -1.3498683 | K198 | K200T | -1.1119161 | I337 | V336F | -1.1114928 | K335 | V336F | -1.1114928 | K204 | K204N | -1.0148912 | K198 | K198R | -0.88339049 |
| (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 AIM2 from PDB |
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| Differential gene expression and gene-gene network for AIM2 |
| 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 AIM2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for AIM2 |
| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of AIM2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 3rn2 | B | K198 K309 K335 I337 | NUC | Nucleic Acids | 3rn5 | B | K198 K309 K335 I337 | NUC | Nucleic Acids | 3rn5 | D | K198 K309 K335 I337 | NUC | Nucleic Acids | 3rn2 | A | K198 K335 | NUC | Nucleic Acids | 3rn5 | A | K198 K335 I337 | NUC | Nucleic Acids | 3rn5 | C | K198 K335 I337 | NUC | Nucleic Acids | 3rn2 | B | K204 | NUC | Nucleic Acids | 3rn5 | A | K204 | NUC | Nucleic Acids | 3rn5 | B | K204 | NUC | Nucleic Acids | 3rn5 | C | K204 | NUC | Nucleic Acids | 3rn2 | A | K204 K309 I337 |
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| Conservation information for LBS of AIM2 |
| Multiple alignments for O14862 in multiple species |
| LBS | AA sequence | # species | Species |
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