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mutLBSgeneDB |
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| Gene summary for BIRC2 |
 Gene summary |
| Basic gene Info. | Gene symbol | BIRC2 |
| Gene name | baculoviral IAP repeat containing 2 | |
| Synonyms | API1|HIAP2|Hiap-2|MIHB|RNF48|c-IAP1|cIAP1 | |
| Cytomap | UCSC genome browser: 11q22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001166.4, NM_001256163.1,NM_001256166.1, | |
| Description | IAP homolog BIAP-2NFR2-TRAF signalling complex proteinRING finger protein 48TNFR2-TRAF-signaling complex protein 2apoptosis inhibitor 1baculoviral IAP repeat-containing 2baculoviral IAP repeat-containing protein 2inhibitor of apoptosis protein 2 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 601712 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000110330 | ||
| HPRD : 03419 | ||
| Vega : OTTHUMG00000167325 | ||
| Protein | UniProt: Q13490 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BIRC2 | |
| BioGPS: 329 | ||
| Pathway | NCI Pathway Interaction Database: BIRC2 | |
| KEGG: BIRC2 | ||
| REACTOME: BIRC2 | ||
| Pathway Commons: BIRC2 | ||
| Context | iHOP: BIRC2 | |
| ligand binding site mutation search in PubMed: BIRC2 | ||
| UCL Cancer Institute: BIRC2 | ||
| 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:0000209 | protein polyubiquitination | 11907583 | GO:0043066 | negative regulation of apoptotic process | 21525013 | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 11907583 | GO:0051726 | regulation of cell cycle | 15665297 | GO:1902523 | positive regulation of protein K63-linked ubiquitination | 21931591 | GO:1902524 | positive regulation of protein K48-linked ubiquitination | 21931591 | GO:1902527 | positive regulation of protein monoubiquitination | 21931591 |
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| Ligand binding site mutations for BIRC2 |
| 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 | C333 | F335L | UCEC | 2 | H326 | A327V | COAD | 1 | C110 | S109C | COAD | 1 | L355,L359 | E357Q | HNSC | 1 | C333 | R332G | KIRC | 1 | W316 | W316C | LUAD | 1 | E325 | W323L | LUSC | 1 | F330 | P331Q | LUSC | 1 | R300 | V298M | 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. |
| Clinical information for BIRC2 from My Cancer Genome. |
| Baculoviral IAP repeat containing 2 (BIRC2) is a gene that encodes a protein that belongs to a family of proteins that functions in the inhibition of apoptosis by binding to TRAF1 and TRAF2 (tumor necrosis factor receptor-associated factors). Missense, nonsense, and silent mutations are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer. Modified: July 1, 2015 |
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| Protein structure related information for BIRC2 |
| 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 | F330 | P331Q | -1.3345932 | C333 | R332G | -0.79870671 | C333 | F335L | -0.74346418 | W316 | W316C | -0.59778774 | R300 | V298M | -0.54858845 | C110 | S109C | -0.51486059 | E325 | W323L | -0.51431224 | H326 | A327V | -0.43122449 | L359 | E357Q | -0.27782805 | L355 | E357Q | -0.27782805 |
| (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 BIRC2 from PDB |
| PDB ID | PDB title | PDB structure | 1QBH | SOLUTION STRUCTURE OF A BACULOVIRAL INHIBITOR OF APOPTOSIS (IAP) REPEAT |  |
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| Differential gene expression and gene-gene network for BIRC2 |
| 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 BIRC2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0038356 | Stomach Neoplasms | 2 | AlteredExpression, Biomarker |
| umls:C0023418 | Leukemia | 2 | Biomarker |
| umls:C0019693 | HIV Infections | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for BIRC2 |
| 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 BIRC2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 3m1d | A | C110 | ZN | ZINC(2+) | 3m1d | B | C110 | ZN | ZINC(2+) | 1qbh | A | H326 C333 | ZN | ZINC(2+) | 3t6p | A | H326 C333 |
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| Conservation information for LBS of BIRC2 |
| Multiple alignments for Q13490 in multiple species |
| LBS | AA sequence | # species | Species | C110 | QLYPSCSFIQN | 1 | Homo sapiens | C110 | RSSPICSMVL- | 1 | Drosophila melanogaster | C110 | QVYPSCSFVQN | 1 | Gallus gallus | C110 | QFYPSCSFVQT | 1 | Mus musculus | C306 | NDDVKCFCCDG | 3 | Homo sapiens, Gallus gallus, Mus musculus | C306 | GDQVRCFHCNI | 1 | Drosophila melanogaster | C309 | VKCFCCDGGLR | 3 | Homo sapiens, Gallus gallus, Mus musculus | C309 | VRCFHCNIGLR | 1 | Drosophila melanogaster | C315 | DGGLRCWESGD | 2 | Homo sapiens, Gallus gallus | C315 | NIGLRSWQKED | 1 | Drosophila melanogaster | C315 | DGGLRCWEPGD | 1 | Mus musculus | C333 | KWFPRCEFLIR | 2 | Homo sapiens, Mus musculus | C333 | KWSPKCQFVLL | 1 | Drosophila melanogaster | C333 | KWFPRCEYLLR | 1 | Gallus gallus | C571 | QEERTCKVCMD | 3 | Homo sapiens, Gallus gallus, Mus musculus | C571 | KDARLCKVCLD | 1 | Drosophila melanogaster | C574 | RTCKVCMDKEV | 2 | Homo sapiens, Gallus gallus | C574 | RLCKVCLDEEV | 1 | Drosophila melanogaster | C574 | RTCKVCMDREV | 1 | Mus musculus | C586 | IVFIPCGHLVV | 2 | Gallus gallus, Mus musculus | C586 | VVFIPCGHLVV | 1 | Homo sapiens | C586 | VVFLPCGHLAT | 1 | Drosophila melanogaster | C592 | GHLVVCQECAP | 2 | Homo sapiens, Mus musculus | C592 | GHLATCNQCAP | 1 | Drosophila melanogaster | C592 | GHLVVCKECAP | 1 | Gallus gallus | C595 | VVCQECAPSLR | 2 | Homo sapiens, Mus musculus | C595 | ATCNQCAPSVA | 1 | Drosophila melanogaster | C595 | VVCKECAPSLR | 1 | Gallus gallus | C602 | PSLRKCPICRG | 3 | Homo sapiens, Gallus gallus, Mus musculus | C602 | PSVANCPMCRA | 1 | Drosophila melanogaster | C605 | RKCPICRGTIK | 2 | Gallus gallus, Mus musculus | C605 | RKCPICRGIIK | 1 | Homo sapiens | C605 | ANCPMCRADIK | 1 | Drosophila melanogaster | C83 | NDKVKCFCCGL | 2 | Homo sapiens, Mus musculus | C83 | WLEAECHFCHV | 1 | Drosophila melanogaster | C83 | QDKVKCFSCGL | 1 | Gallus gallus | C86 | VKCFCCGLMLD | 2 | Homo sapiens, Mus musculus | C86 | AECHFCHVRID | 1 | Drosophila melanogaster | C86 | VKCFSCGLVLD | 1 | Gallus gallus | D303 | VGRNDDVKCFC | 2 | Homo sapiens, Gallus gallus | D303 | QKIGDQVRCFH | 1 | Drosophila melanogaster | D303 | VDRNDDVKCFC | 1 | Mus musculus | D320 | CWESGDDPWVE | 1 | Homo sapiens | D320 | SWQKEDEPWFE | 1 | Drosophila melanogaster | D320 | CWESGDDPWIE | 1 | Gallus gallus | D320 | CWEPGDDPWIE | 1 | Mus musculus | E317 | GLRCWESGDDP | 2 | Homo sapiens, Gallus gallus | E317 | GLRSWQKEDEP | 1 | Drosophila melanogaster | E317 | GLRCWEPGDDP | 1 | Mus musculus | E325 | DDPWIEHAKWF | 2 | Gallus gallus, Mus musculus | E325 | DDPWVEHAKWF | 1 | Homo sapiens | E325 | DEPWFEHAKWS | 1 | Drosophila melanogaster | F330 | EHAKWFPRCEF | 2 | Homo sapiens, Mus musculus | F330 | EHAKWSPKCQF | 1 | Drosophila melanogaster | F330 | EHAKWFPRCEY | 1 | Gallus gallus | G312 | FCCDGGLRCWE | 3 | Homo sapiens, Gallus gallus, Mus musculus | G312 | FHCNIGLRSWQ | 1 | Drosophila melanogaster | H103 | SPIQKHKQLYP | 1 | Homo sapiens | H103 | QVAERHRRSSP | 1 | Drosophila melanogaster | H103 | NAMEKHKQVYP | 1 | Gallus gallus | H103 | SPVEKHRQFYP | 1 | Mus musculus | H326 | DPWIEHAKWFP | 2 | Gallus gallus, Mus musculus | H326 | DPWVEHAKWFP | 1 | Homo sapiens | H326 | EPWFEHAKWSP | 1 | Drosophila melanogaster | H588 | FIPCGHLVVCQ | 2 | Homo sapiens, Mus musculus | H588 | FLPCGHLATCN | 1 | Drosophila melanogaster | H588 | FIPCGHLVVCK | 1 | Gallus gallus | K82 | VNDKVKCFCCG | 2 | Homo sapiens, Mus musculus | K82 | NWLEAECHFCH | 1 | Drosophila melanogaster | K82 | VQDKVKCFSCG | 1 | Gallus gallus | L28 | EDSTILSDWTN | 1 | Homo sapiens | L28 | ----------- | 1 | Drosophila melanogaster | L28 | DSSPLLASVMK | 1 | Gallus gallus | L28 | EKSTILSNWTK | 1 | Mus musculus | L313 | CCDGGLRCWES | 2 | Homo sapiens, Gallus gallus | L313 | HCNIGLRSWQK | 1 | Drosophila melanogaster | L313 | CCDGGLRCWEP | 1 | Mus musculus | L355 | GRYPHLL-EQL | 1 | Homo sapiens | L355 | ----------L | 1 | Drosophila melanogaster | L355 | ARFPHLLWNSS | 1 | Gallus gallus | L355 | ARYPHLL-EQL | 1 | Mus musculus | L359 | LL-EQLLSTSD | 2 | Homo sapiens, Mus musculus | L359 | -----LATTAA | 1 | Drosophila melanogaster | L359 | LLWNSSCTTSD | 1 | Gallus gallus | L9 | ----------- | 2 | Drosophila melanogaster, Gallus gallus | L9 | TASQRLFPGPS | 1 | Homo sapiens | L9 | TVSQRLGQGTL | 1 | Mus musculus | R300 | FYYVGRNDDVK | 2 | Homo sapiens, Gallus gallus | R300 | LYYQKIGDQVR | 1 | Drosophila melanogaster | R300 | FYYVDRNDDVK | 1 | Mus musculus | R314 | CDGGLRCWESG | 2 | Homo sapiens, Gallus gallus | R314 | CNIGLRSWQKE | 1 | Drosophila melanogaster | R314 | CDGGLRCWEPG | 1 | Mus musculus | V81 | GVNDKVKCFCC | 2 | Homo sapiens, Mus musculus | V81 | GNWLEAECHFC | 1 | Drosophila melanogaster | V81 | GVQDKVKCFSC | 1 | Gallus gallus | W316 | GGLRCWESGDD | 2 | Homo sapiens, Gallus gallus | W316 | IGLRSWQKEDE | 1 | Drosophila melanogaster | W316 | GGLRCWEPGDD | 1 | Mus musculus | W329 | IEHAKWFPRCE | 2 | Gallus gallus, Mus musculus | W329 | VEHAKWFPRCE | 1 | Homo sapiens | W329 | FEHAKWSPKCQ | 1 | Drosophila melanogaster |
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