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mutLBSgeneDB |
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| Gene summary for DDB2 |
 Gene summary |
| Basic gene Info. | Gene symbol | DDB2 |
| Gene name | damage-specific DNA binding protein 2, 48kDa | |
| Synonyms | DDBB|UV-DDB2 | |
| Cytomap | UCSC genome browser: 11p12-p11 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000107.2, NM_001300734.1, | |
| Description | DDB p48 subunitDNA damage-binding protein 2UV-DDB 2UV-damaged DNA-binding protein 2damage-specific DNA-binding protein 2xeroderma pigmentosum group E protein | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 600811 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000134574 | ||
| HPRD : 02886 | ||
| Vega : OTTHUMG00000187453 | ||
| Protein | UniProt: Q92466 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_DDB2 | |
| BioGPS: 1643 | ||
| Pathway | NCI Pathway Interaction Database: DDB2 | |
| KEGG: DDB2 | ||
| REACTOME: DDB2 | ||
| Pathway Commons: DDB2 | ||
| Context | iHOP: DDB2 | |
| ligand binding site mutation search in PubMed: DDB2 | ||
| UCL Cancer Institute: DDB2 | ||
| 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 | 12732143 | GO:0009411 | response to UV | 12732143 | GO:0035518 | histone H2A monoubiquitination | 22334663 | GO:0051865 | protein autoubiquitination | 12732143 | GO:0070914 | UV-damage excision repair | 22334663 |
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| Ligand binding site mutations for DDB2 |
| 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 | R370 | T371M | UCEC | 2 | I394 | S396L | BRCA | 1 | H336 | T338P | OV | 1 | P290 | P290L | SKCM | 1 | H333 | H333Y | STAD | 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 DDB2 from My Cancer Genome. |
| Damage-specific DNA binding protein 2, 47kDa (DDB2) is a gene that encodes a protein that functions in repair of UV light damaged DNA. Missense mutations, silent mutations, frameshift deletions, and nonsense mutations are observed in cancers such as endometrial cancer, urinary tract cancer, and cervical cancer. Modified: August 27, 2015 |
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| Protein structure related information for DDB2 |
| 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 | H336 | T338P | -0.9849027 | R370 | T371M | -0.62498919 | P290 | P290L | -0.3648813 | H333 | H333Y | -0.34075128 | I394 | S396L | -0.16266262 |
| (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 DDB2 from PDB |
| PDB ID | PDB title | PDB structure | 3EI4 | Structure of the hsDDB1-hsDDB2 complex |  |
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| Differential gene expression and gene-gene network for DDB2 |
| 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 DDB2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1848411 | Xeroderma Pigmentosum, Complementation Group E | 4 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for DDB2 |
| 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 DDB2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 4e54 | B | H333 H336 | NUC | Nucleic Acids | 4e5z | B | I394 | NUC | Nucleic Acids | 4e5z | B | P290 H333 H336 | NUC | Nucleic Acids | 4e54 | B | R370 |
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| Conservation information for LBS of DDB2 |
| Multiple alignments for Q92466 in multiple species |
| LBS | AA sequence | # species | Species | A155 | IKGIGAGGSIT | 2 | Homo sapiens, Bos taurus | A155 | --GNIHSVQVN | 1 | Arabidopsis thaliana | A155 | LKGIGAGGSIT | 1 | Mus musculus | A155 | IKGKGPGDSLG | 1 | Gallus gallus | A155 | IPGIGAGGCIT | 1 | Xenopus tropicalis | F334 | HPHRHFQHLTP | 3 | Homo sapiens, Mus musculus, Bos taurus | F334 | HSNDFNRHLTP | 1 | Arabidopsis thaliana | F334 | HPHRQFQHLTP | 1 | Gallus gallus | F334 | HPHRQFQHLTA | 1 | Xenopus tropicalis | G156 | KGIGAGGSITG | 3 | Homo sapiens, Mus musculus, Bos taurus | G156 | -GNIHSVQVNN | 1 | Arabidopsis thaliana | G156 | KGKGPGDSLGD | 1 | Gallus gallus | G156 | PGIGAGGCITG | 1 | Xenopus tropicalis | G393 | DPESSGISSLN | 1 | Homo sapiens | G393 | DPNITTITPVN | 1 | Arabidopsis thaliana | G393 | DPGYSGITSLN | 1 | Mus musculus | G393 | DPESSGIMSLN | 1 | Bos taurus | G393 | DPNASGIISLN | 1 | Gallus gallus | G393 | DPYASGIVSLN | 1 | Xenopus tropicalis | G412 | LASGMGFNILI | 2 | Gallus gallus, Xenopus tropicalis | G412 | LASAMGYHILI | 1 | Homo sapiens | G412 | LASGSSRSLFI | 1 | Arabidopsis thaliana | G412 | LASTMGYHILI | 1 | Mus musculus | G412 | LASVMGYHILV | 1 | Bos taurus | H333 | PHPHRHFQHLT | 2 | Homo sapiens, Bos taurus | H333 | PHPHRQFQHLT | 2 | Gallus gallus, Xenopus tropicalis | H333 | VHSNDFNRHLT | 1 | Arabidopsis thaliana | H333 | SHPHRHFQHLT | 1 | Mus musculus | H336 | HRHFQHLTPIK | 3 | Homo sapiens, Mus musculus, Bos taurus | H336 | NDFNRHLTPFK | 1 | Arabidopsis thaliana | H336 | HRQFQHLTPIK | 1 | Gallus gallus | H336 | HRQFQHLTAIK | 1 | Xenopus tropicalis | I394 | PESSGISSLNE | 1 | Homo sapiens | I394 | PNITTITPVNK | 1 | Arabidopsis thaliana | I394 | PGYSGITSLNE | 1 | Mus musculus | I394 | PESSGIMSLNE | 1 | Bos taurus | I394 | PNASGIISLNK | 1 | Gallus gallus | I394 | PYASGIVSLNK | 1 | Xenopus tropicalis | K132 | VAVGSKGGDII | 2 | Gallus gallus, Xenopus tropicalis | K132 | VAVGSKGGDIM | 1 | Homo sapiens | K132 | LLSGDKKGQIG | 1 | Arabidopsis thaliana | K132 | LAVGSKGGDIM | 1 | Mus musculus | K132 | LAVGSKGGDIL | 1 | Bos taurus | K242 | NLRMHKKKVTH | 2 | Homo sapiens, Bos taurus | K242 | -IHKQGSKVCG | 1 | Arabidopsis thaliana | K242 | NLRMHKKKVAH | 1 | Mus musculus | K242 | KLKLHKKKVTH | 1 | Gallus gallus | K242 | KLRLHKKKVTH | 1 | Xenopus tropicalis | K243 | LRMHKKKVTHV | 2 | Homo sapiens, Bos taurus | K243 | IHKQGSKVCGL | 1 | Arabidopsis thaliana | K243 | LRMHKKKVAHV | 1 | Mus musculus | K243 | LKLHKKKVTHV | 1 | Gallus gallus | K243 | LRLHKKKVTHV | 1 | Xenopus tropicalis | K244 | RMHKKKVTHVA | 2 | Homo sapiens, Bos taurus | K244 | HKQGSKVCGLD | 1 | Arabidopsis thaliana | K244 | RMHKKKVAHVA | 1 | Mus musculus | K244 | KLHKKKVTHVE | 1 | Gallus gallus | K244 | RLHKKKVTHVE | 1 | Xenopus tropicalis | M177 | FYASSMEGTTR | 1 | Homo sapiens | M177 | VYSASSDGTIG | 1 | Arabidopsis thaliana | M177 | FFASSMEGTTR | 1 | Mus musculus | M177 | FFTSSMEGTTR | 1 | Bos taurus | M177 | LYVASGDGTLS | 1 | Gallus gallus | M177 | LYTSSVAGSTV | 1 | Xenopus tropicalis | N201 | -----NIWFCS | 1 | Homo sapiens | N201 | GANSWKMLY-G | 1 | Arabidopsis thaliana | N201 | -----KVWFCS | 1 | Mus musculus | N201 | -----NVWFCS | 1 | Bos taurus | N201 | ENHNVCCWYCS | 1 | Gallus gallus | N201 | ----WAMWYCS | 1 | Xenopus tropicalis | P290 | LPHRHPVNAAC | 2 | Homo sapiens, Mus musculus | P290 | LAHKRVVNSAY | 1 | Arabidopsis thaliana | P290 | LPHRHPVNAAH | 1 | Bos taurus | P290 | LPHDKPVNAAY | 1 | Gallus gallus | P290 | LPHARGVNSAY | 1 | Xenopus tropicalis | Q308 | LLTTDQKSEIR | 2 | Homo sapiens, Bos taurus | Q308 | ILTTCQDNRIR | 1 | Arabidopsis thaliana | Q308 | LLTTDQNNEIR | 1 | Mus musculus | Q308 | LLSTDQRNEIR | 1 | Gallus gallus | Q308 | LLTTDQHSEIR | 1 | Xenopus tropicalis | Q335 | PHRHFQHLTPI | 3 | Homo sapiens, Mus musculus, Bos taurus | Q335 | SNDFNRHLTPF | 1 | Arabidopsis thaliana | Q335 | PHRQFQHLTPI | 1 | Gallus gallus | Q335 | PHRQFQHLTAI | 1 | Xenopus tropicalis | R112 | ---FDRRATSL | 2 | Homo sapiens, Bos taurus | R112 | IRYHSRRVTCL | 1 | Arabidopsis thaliana | R112 | ---FDRRTTSL | 1 | Mus musculus | R112 | ---FDRRVTCL | 1 | Gallus gallus | R112 | ---FDRRVTTL | 1 | Xenopus tropicalis | R239 | ELWNLRMHKKK | 3 | Homo sapiens, Mus musculus, Bos taurus | R239 | PIL-IHKQGSK | 1 | Arabidopsis thaliana | R239 | EIWKLKLHKKK | 1 | Gallus gallus | R239 | EIWKLRLHKKK | 1 | Xenopus tropicalis | R332 | IPHPHRHFQHL | 2 | Homo sapiens, Bos taurus | R332 | IPHPHRQFQHL | 2 | Gallus gallus, Xenopus tropicalis | R332 | IVHSNDFNRHL | 1 | Arabidopsis thaliana | R332 | ISHPHRHFQHL | 1 | Mus musculus | R370 | TPYELRTIDVF | 1 | Homo sapiens | R370 | A---LHPIDFI | 1 | Arabidopsis thaliana | R370 | VPYELRTIDVF | 1 | Mus musculus | R370 | SPHELRTIDVF | 1 | Bos taurus | R370 | TVNELRTVDIF | 1 | Gallus gallus | R370 | MSDELRTVDVF | 1 | Xenopus tropicalis | V263 | LATASVDQTVK | 3 | Homo sapiens, Bos taurus, Gallus gallus | V263 | LLSCGNDHFAR | 1 | Arabidopsis thaliana | V263 | LATASIDQTVK | 1 | Mus musculus | V263 | LASASVDQTVK | 1 | Xenopus tropicalis | W203 | ---NIWFCSLD | 1 | Homo sapiens | W203 | NSWKMLY-GMD | 1 | Arabidopsis thaliana | W203 | ---KVWFCSLD | 1 | Mus musculus | W203 | ---NVWFCSLD | 1 | Bos taurus | W203 | HNVCCWYCSVD | 1 | Gallus gallus | W203 | --WAMWYCSLD | 1 | Xenopus tropicalis | Y356 | IVVGRYPDPNF | 2 | Homo sapiens, Bos taurus | Y356 | IVIGRYISENY | 1 | Arabidopsis thaliana | Y356 | IVVGRYPDPNL | 1 | Mus musculus | Y356 | IVVGRYPDPKF | 1 | Gallus gallus | Y356 | IVVGRYPDPLF | 1 | Xenopus tropicalis | Y413 | ASGMGFNILIW | 2 | Gallus gallus, Xenopus tropicalis | Y413 | ASAMGYHILIW | 1 | Homo sapiens | Y413 | ASGSSRSLFIW | 1 | Arabidopsis thaliana | Y413 | ASTMGYHILIW | 1 | Mus musculus | Y413 | ASVMGYHILVW | 1 | Bos taurus |
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