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mutLBSgeneDB |
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| Gene summary for PAPSS2 |
 Gene summary |
| Basic gene Info. | Gene symbol | PAPSS2 |
| Gene name | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | |
| Synonyms | ATPSK2|BCYM4|SK2 | |
| Cytomap | UCSC genome browser: 10q24 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001015880.1, NM_004670.3, | |
| Description | 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2ATP sulfurylase/APS kinase 2ATP sulfurylase/adenosine 5'-phosphosulfate kinasePAPS synthase 2PAPS synthetase 2SK 2bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2bifunctional 3' | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 603005 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000198682 | ||
| HPRD : 04303 | ||
| Vega : OTTHUMG00000018683 | ||
| Protein | UniProt: O95340 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PAPSS2 | |
| BioGPS: 9060 | ||
| Pathway | NCI Pathway Interaction Database: PAPSS2 | |
| KEGG: PAPSS2 | ||
| REACTOME: PAPSS2 | ||
| Pathway Commons: PAPSS2 | ||
| Context | iHOP: PAPSS2 | |
| ligand binding site mutation search in PubMed: PAPSS2 | ||
| UCL Cancer Institute: PAPSS2 | ||
| 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 PAPSS2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | G52 | L50I | COAD | 1 | R158 | E156G | KIRC | 1 | S197 | S197F | LUAD | 1 | G54 | G54E | SKCM | 1 | C202 | H204Q | THCA | 1 | T57 | T57M | 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 PAPSS2 |
| 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 | R158 | E156G | -1.3556609 | G52 | L50I | -1.2313643 | S197 | S197F | -0.79672389 | G54 | G54E | -0.33544435 | C202 | H204Q | -0.32128768 | T57 | T57M | -0.24964762 |
| (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 PAPSS2 from PDB |
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| Differential gene expression and gene-gene network for PAPSS2 |
| 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 PAPSS2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C2748515 | Spondyloepimetaphyseal Dysplasia, Pakistani Type | 1 | Biomarker, GeneticVariation |
| umls:C2748516 | Spondylodysplasia And Premature Pubarche | 1 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PAPSS2 |
| 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 PAPSS2 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 PAPSS2 |
| Multiple alignments for O95340 in multiple species |
| LBS | AA sequence | # species | Species | A53 | ----------- | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | A53 | TGLSGAGKTTI | 2 | Homo sapiens, Mus musculus | A53 | ----------M | 1 | Arabidopsis thaliana | C202 | ----------- | 4 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | C202 | STVSDCVHQVV | 1 | Homo sapiens | C202 | SSVSDCVQQVV | 1 | Mus musculus | G52 | ----------- | 4 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | G52 | LTGLSGAGKTT | 2 | Homo sapiens, Mus musculus | G54 | ----------- | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | G54 | GLSGAGKTTIS | 2 | Homo sapiens, Mus musculus | G54 | ---------MS | 1 | Arabidopsis thaliana | I58 | ----------- | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | I58 | AGKTTISFALE | 2 | Homo sapiens, Mus musculus | I58 | -----MSLMIR | 1 | Arabidopsis thaliana | K55 | ----------- | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | K55 | LSGAGKTTISF | 2 | Homo sapiens, Mus musculus | K55 | --------MSL | 1 | Arabidopsis thaliana | R158 | NICESRDVKGL | 2 | Homo sapiens, Mus musculus | R158 | TMQSVSKMT-- | 1 | Arabidopsis thaliana | R158 | RQVSRRGLS-- | 1 | Arabidopsis thaliana | R158 | LRR--RVGS-- | 1 | Arabidopsis thaliana | R158 | KTRSLRTIS-- | 1 | Arabidopsis thaliana | S197 | ----------- | 4 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | S197 | LKTNLSTVSDC | 1 | Homo sapiens | S197 | LKTNLSSVSDC | 1 | Mus musculus | T194 | KLV-------- | 2 | Arabidopsis thaliana, Arabidopsis thaliana | T194 | ERVLKTNLSTV | 1 | Homo sapiens | T194 | ECVLKTNLSSV | 1 | Mus musculus | T194 | ELV-------- | 1 | Arabidopsis thaliana | T194 | KLM-------- | 1 | Arabidopsis thaliana | T198 | ----------- | 4 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | T198 | KTNLSTVSDCV | 1 | Homo sapiens | T198 | KTNLSSVSDCV | 1 | Mus musculus | T56 | ----------- | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | T56 | SGAGKTTISFA | 2 | Homo sapiens, Mus musculus | T56 | -------MSLM | 1 | Arabidopsis thaliana | T57 | ----------- | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | T57 | GAGKTTISFAL | 2 | Homo sapiens, Mus musculus | T57 | ------MSLMI | 1 | Arabidopsis thaliana | V160 | CESRDVKGLYK | 2 | Homo sapiens, Mus musculus | V160 | QSVSKMT---- | 1 | Arabidopsis thaliana | V160 | VSRRGLS---- | 1 | Arabidopsis thaliana | V160 | R--RVGS---- | 1 | Arabidopsis thaliana | V160 | RSLRTIS---- | 1 | Arabidopsis thaliana | V199 | ----------- | 4 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | V199 | TNLSTVSDCVH | 1 | Homo sapiens | V199 | TNLSSVSDCVQ | 1 | Mus musculus |
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