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mutLBSgeneDB |
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| Gene summary for CCM2 |
 Gene summary |
| Basic gene Info. | Gene symbol | CCM2 |
| Gene name | cerebral cavernous malformation 2 | |
| Synonyms | C7orf22|OSM | |
| Cytomap | UCSC genome browser: 7p13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001029835.2, NM_001167934.1,NM_001167935.1,NM_031443.3,NR_030770.1, | |
| Description | cerebral cavernous malformations 2 proteinmalcavernin | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 607929 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000136280 | ||
| HPRD : 09719 | ||
| Vega : OTTHUMG00000129246 | ||
| Protein | UniProt: Q9BSQ5 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CCM2 | |
| BioGPS: 83605 | ||
| Pathway | NCI Pathway Interaction Database: CCM2 | |
| KEGG: CCM2 | ||
| REACTOME: CCM2 | ||
| Pathway Commons: CCM2 | ||
| Context | iHOP: CCM2 | |
| ligand binding site mutation search in PubMed: CCM2 | ||
| UCL Cancer Institute: CCM2 | ||
| 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 |
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| Ligand binding site mutations for CCM2 |
| 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 | R307 | R307H | BRCA | 1 | F17 | P16L | LUAD | 1 | S312 | S311L | LUSC | 1 | P82 | L80M | STAD | 1 | R307 | R307H | UCEC | 1 | E207 | A206V | 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 CCM2 |
| 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 | R307 | R307H | -1.3091567 | P82 | L80M | -0.66187172 | E207 | A206V | -0.29251599 | S312 | S311L | -0.29020831 | F17 | P16L | -0.24628127 |
| (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 CCM2 from PDB |
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| Differential gene expression and gene-gene network for CCM2 |
| 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 CCM2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1864041 | Cerebral Cavernous Malformations 2 | 2 | Biomarker, GeneticVariation |
| umls:C0752160 | Hemangioma, Cavernous, Central Nervous System | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CCM2 |
| 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 CCM2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (VAL,ASP,LYS,VAL,VAL,ILE,ASN,PRO,TYR,PHE,GLY) | 4wj7 | A | P82 | III | Peptide ligand (VAL,ASP,LYS,VAL,VAL,ILE,ASN,PRO,TYR,PHE,GLY,LEU) | 4wj7 | B | P82 | III | Peptide ligand (VAL,ASP,LYS,VAL,VAL,ILE,ASN,PRO,TYR,PHE,GLY) | 4wj7 | C | P82 E207 | III | Peptide ligand (VAL,ASP,LYS,VAL,VAL,ILE,ASN,PRO,TYR,PHE,GLY) | 4wj7 | D | P82 E207 | III | Peptide ligand (ASP,GLU,GLN,GLU,ALA,LEU,ASN,SER,ILE,MET,ASN,ASP,LEU,VAL,ALA,LEU,GLN,MET) | 4yl6 | A | R307 S312 |
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| Conservation information for LBS of CCM2 |
| Multiple alignments for Q9BSQ5 in multiple species |
| LBS | AA sequence | # species | Species | A140 | PIHDIAAVSYV | 2 | Homo sapiens, Mus musculus | A140 | PIHDIAAVSYI | 1 | Danio rerio | A141 | IHDIAAVSYVR | 2 | Homo sapiens, Mus musculus | A141 | IHDIAAVSYIR | 1 | Danio rerio | A319 | EIQQFAALLHE | 2 | Homo sapiens, Mus musculus | A319 | EIQQFATLLHE | 1 | Danio rerio | C210 | AAEELCCLLGQ | 1 | Homo sapiens | C210 | AAEELCLLLSQ | 1 | Danio rerio | C210 | AAEELCSLLSQ | 1 | Mus musculus | C211 | AEELCCLLGQV | 1 | Homo sapiens | C211 | AEELCLLLSQV | 1 | Danio rerio | C211 | AEELCSLLSQV | 1 | Mus musculus | D138 | RVPIHDIAAVS | 3 | Homo sapiens, Danio rerio, Mus musculus | E207 | SKVAAEELCCL | 1 | Homo sapiens | E207 | NKAAAEELCLL | 1 | Danio rerio | E207 | SKVAAEELCSL | 1 | Mus musculus | F17 | GIVSPFKRVFL | 3 | Homo sapiens, Danio rerio, Mus musculus | F217 | LLSQVFQIVYT | 2 | Danio rerio, Mus musculus | F217 | LLGQVFQVVYT | 1 | Homo sapiens | F318 | QEIQQFAALLH | 2 | Homo sapiens, Mus musculus | F318 | KEIQQFATLLH | 1 | Danio rerio | F356 | LGLRPFIPEKD | 3 | Homo sapiens, Danio rerio, Mus musculus | G214 | LCCLLGQVFQV | 1 | Homo sapiens | G214 | LCLLLSQVFQI | 1 | Danio rerio | G214 | LCSLLSQVFQI | 1 | Mus musculus | H137 | LRVPIHDIAAV | 3 | Homo sapiens, Danio rerio, Mus musculus | H323 | FAALLHEYRNG | 2 | Homo sapiens, Mus musculus | H323 | FATLLHEYRNG | 1 | Danio rerio | I136 | ILRVPIHDIAA | 3 | Homo sapiens, Danio rerio, Mus musculus | I139 | VPIHDIAAVSY | 3 | Homo sapiens, Danio rerio, Mus musculus | I315 | LSSQEIQQFAA | 2 | Homo sapiens, Mus musculus | I315 | LSSKEIQQFAT | 1 | Danio rerio | K203 | LAAESKVAAEE | 1 | Homo sapiens | K203 | LAVDNKAAAEE | 1 | Danio rerio | K203 | MATESKVAAEE | 1 | Mus musculus | L299 | SATELLQDYML | 2 | Homo sapiens, Mus musculus | L299 | TAAELLQDYMT | 1 | Danio rerio | L306 | DYMLTLRTKLS | 2 | Homo sapiens, Mus musculus | L306 | DYMTTLRTKLS | 1 | Danio rerio | L322 | QFAALLHEYRN | 2 | Homo sapiens, Mus musculus | L322 | QFATLLHEYRN | 1 | Danio rerio | M303 | LLQDYMLTLRT | 2 | Homo sapiens, Mus musculus | M303 | LLQDYMTTLRT | 1 | Danio rerio | P355 | LLGLRPFIPEK | 3 | Homo sapiens, Danio rerio, Mus musculus | P358 | LRPFIPEKDSQ | 3 | Homo sapiens, Danio rerio, Mus musculus | P82 | PGYLNPSSRTE | 3 | Homo sapiens, Danio rerio, Mus musculus | Q316 | SSQEIQQFAAL | 2 | Homo sapiens, Mus musculus | Q316 | SSKEIQQFATL | 1 | Danio rerio | R146 | AVSYVRDDAAH | 2 | Homo sapiens, Mus musculus | R146 | AVSYIRDDSLH | 1 | Danio rerio | R307 | YMLTLRTKLSS | 2 | Homo sapiens, Mus musculus | R307 | YMTTLRTKLSS | 1 | Danio rerio | R326 | LLHEYRNGASI | 3 | Homo sapiens, Danio rerio, Mus musculus | R85 | LNPSSRTEILH | 2 | Homo sapiens, Mus musculus | R85 | LNPSSRTEVLQ | 1 | Danio rerio | S143 | DIAAVSYVRDD | 2 | Homo sapiens, Mus musculus | S143 | DIAAVSYIRDD | 1 | Danio rerio | S312 | RTKLSSQEIQQ | 2 | Homo sapiens, Mus musculus | S312 | RTKLSSKEIQQ | 1 | Danio rerio | S83 | GYLNPSSRTEI | 2 | Homo sapiens, Mus musculus | S83 | GYLNPSSRTEV | 1 | Danio rerio | S84 | YLNPSSRTEIL | 2 | Homo sapiens, Mus musculus | S84 | YLNPSSRTEVL | 1 | Danio rerio | V14 | KKPGIVSPFKR | 3 | Homo sapiens, Danio rerio, Mus musculus | V142 | HDIAAVSYVRD | 2 | Homo sapiens, Mus musculus | V142 | HDIAAVSYIRD | 1 | Danio rerio | V145 | AAVSYVRDDAA | 2 | Homo sapiens, Mus musculus | V145 | AAVSYIRDDSL | 1 | Danio rerio | V45 | RPLHTVVLSLP | 1 | Homo sapiens | V45 | RALHTFSLSLP | 1 | Danio rerio | V45 | RPLHTVVLALP | 1 | Mus musculus | Y144 | IAAVSYVRDDA | 2 | Homo sapiens, Mus musculus | Y144 | IAAVSYIRDDS | 1 | Danio rerio | Y325 | ALLHEYRNGAS | 2 | Homo sapiens, Mus musculus | Y325 | TLLHEYRNGAS | 1 | Danio rerio |
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