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mutLBSgeneDB |
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| Gene summary for CD2 |
 Gene summary |
| Basic gene Info. | Gene symbol | CD2 |
| Gene name | CD2 molecule | |
| Synonyms | LFA-2|SRBC|T11 | |
| Cytomap | UCSC genome browser: 1p13.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001767.3, | |
| Description | CD2 antigen (p50), sheep red blood cell receptorLFA-3 receptorT-cell surface antigen CD2T-cell surface antigen T11/Leu-5erythrocyte receptorlymphocyte-function antigen-2rosette receptor | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 186990 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000116824 | ||
| HPRD : 01750 | ||
| Vega : OTTHUMG00000022750 | ||
| Protein | UniProt: P06729 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CD2 | |
| BioGPS: 914 | ||
| Pathway | NCI Pathway Interaction Database: CD2 | |
| KEGG: CD2 | ||
| REACTOME: CD2 | ||
| Pathway Commons: CD2 | ||
| Context | iHOP: CD2 | |
| ligand binding site mutation search in PubMed: CD2 | ||
| UCL Cancer Institute: CD2 | ||
| 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:0032760 | positive regulation of tumor necrosis factor production | 19109405 | GO:0034113 | heterotypic cell-cell adhesion | 15345303 | GO:1902715 | positive regulation of interferon-gamma secretion | 19109405 |
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| Ligand binding site mutations for CD2 |
| 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 | T91 | K93N | LUAD | 1 | D44 | P46S | SKCM | 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 CD2 |
| 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 | D44 | P46S | -1.4971936 | T91 | K93N | -0.86856425 |
| (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 CD2 from PDB |
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| Differential gene expression and gene-gene network for CD2 |
| 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 CD2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0003873 | Arthritis, Rheumatoid | 2 | Biomarker, GeneticVariation |
| umls:C0027726 | Nephrotic Syndrome | 1 | Biomarker |
| umls:C0040053 | Thrombosis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CD2 |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|withdrawn | DB00092 | Alefacept | Biotech |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CD2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of CD2 |
| Multiple alignments for P06729 in multiple species |
| LBS | AA sequence | # species | Species | D44 | QDINLDIPSFQ | 1 | Homo sapiens | D44 | HGITLNIPNFQ | 1 | Mus musculus | D44 | HGINLNIPNFQ | 1 | Rattus norvegicus | E128 | DLKIQERVSKP | 1 | Homo sapiens | E128 | DVRILERVSKP | 1 | Mus musculus | E128 | DLRILEMVSKP | 1 | Rattus norvegicus | F87 | DTYKLFKNGTL | 1 | Homo sapiens | F87 | ETYEVLANGSL | 1 | Mus musculus | F87 | GAFEILANGDL | 1 | Rattus norvegicus | N150 | TCEVMNGTDPE | 1 | Homo sapiens | N150 | TCAVLQGTDFE | 1 | Mus musculus | N150 | TCEVLEGTDVE | 1 | Rattus norvegicus | N89 | YKLFKNGTLKI | 1 | Homo sapiens | N89 | YEVLANGSLKI | 1 | Mus musculus | N89 | FEILANGDLKI | 1 | Rattus norvegicus | S131 | IQERVSKPKIS | 1 | Homo sapiens | S131 | ILERVSKPMIH | 1 | Mus musculus | S131 | ILEMVSKPMIY | 1 | Rattus norvegicus | T91 | LFKNGTLKIKH | 1 | Homo sapiens | T91 | VLANGSLKIKK | 1 | Mus musculus | T91 | ILANGDLKIKN | 1 | Rattus norvegicus |
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