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mutLBSgeneDB |
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| Gene summary for PDE4A |
 Gene summary |
| Basic gene Info. | Gene symbol | PDE4A |
| Gene name | phosphodiesterase 4A, cAMP-specific | |
| Synonyms | DPDE2|PDE4|PDE46 | |
| Cytomap | UCSC genome browser: 19p13.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001111307.1, NM_001111308.1,NM_001111309.1,NM_001243121.1,NM_006202.2, | |
| Description | cAMP-specific 3',5'-cyclic phosphodiesterase 4Aphosphodiesterase 4A, cAMP-specific (duncephosphodiesterase E2 dunce homolog, Drosophilaphosphodiesterase isozyme 4 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 600126 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000065989 | ||
| HPRD : 02527 | ||
| Vega : OTTHUMG00000180411 | ||
| Protein | UniProt: P27815 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PDE4A | |
| BioGPS: 5141 | ||
| Pathway | NCI Pathway Interaction Database: PDE4A | |
| KEGG: PDE4A | ||
| REACTOME: PDE4A | ||
| Pathway Commons: PDE4A | ||
| Context | iHOP: PDE4A | |
| ligand binding site mutation search in PubMed: PDE4A | ||
| UCL Cancer Institute: PDE4A | ||
| 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:0006198 | cAMP catabolic process | 17404263 |
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| Ligand binding site mutations for PDE4A |
| 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 | D591 | A590V | GBM | 1 | D474 | D474N | HNSC | 1 | F613 | Q615H | KIRC | 1 | D474 | V475L | LUAD | 1 | N594 | N594S | STAD | 1 | H473 | A471V | 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 PDE4A |
| 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 | F613 | Q615H | -1.0745272 | D474 | V475L | -0.90902103 | N594 | N594S | -0.73330091 | H473 | A471V | -0.4219737 | D474 | D474N | -0.40433243 | D591 | A590V | -0.3834742 |
| (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 PDE4A from PDB |
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| Differential gene expression and gene-gene network for PDE4A |
| 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 PDE4A |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0004352 | Autistic Disorder | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PDE4A |
| 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 | DB00277 | Theophylline | Small molecule |  |
| Approved | DB00651 | Dyphylline | Small molecule |  |
| Approved|investigational | DB00806 | Pentoxifylline | Small molecule |  |
| Approved | DB00824 | Enprofylline | Small molecule |  |
| Approved | DB00920 | Ketotifen | Small molecule |  |
| Approved | DB00975 | Dipyridamole | Small molecule |  |
| Approved|investigational | DB01088 | Iloprost | Small molecule |  |
| Approved | DB01303 | Oxtriphylline | Small molecule |  |
| Approved | DB01656 | Roflumilast | Small molecule |  |
| Experimental | DB01791 | Piclamilast | Small molecule |  |
| Investigational | DB05219 | AN2728 | Small molecule |  |
| Approved|investigational | DB05266 | Ibudilast | Small molecule |  |
| Approved|investigational | DB05676 | Apremilast | Small molecule |  |
| Investigational | DB05876 | PDE4 | Small molecule |  |
| Approved | DB06751 | Drotaverine | Small molecule |  |
| Experimental | DB06842 | (4R)-4-(3-butoxy-4-methoxybenzyl)imidazolidin-2-one | Small molecule |  |
| Experimental | DB08299 | 4-[8-(3-nitrophenyl)-1,7-naphthyridin-6-yl]benzoic acid | Small molecule |  |
| Approved | DB08811 | Tofisopam | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of PDE4A 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 PDE4A |
| Multiple alignments for P27815 in multiple species |
| LBS | AA sequence | # species | Species | D429 | DHYHADVAYHN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D474 | AAAIHDVDHPG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D591 | MVHCADLSNPT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F613 | RIMAEFFQQGD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F645 | KSQVGFIDYIV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H427 | LEDHYHADVAY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H433 | ADVAYHNSLHA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H437 | YHNSLHAADVL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H473 | FAAAIHDVDHP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I609 | QWTDRIMAEFF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M546 | VLATDMSKHMT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M610 | WTDRIMAEFFQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M630 | MEISPMCDKHT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N594 | CADLSNPTKPL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q642 | SVEKSQVGFID | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S641 | ASVEKSQVGFI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T544 | DMVLATDMSKH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T606 | LYRQWTDRIMA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y432 | HADVAYHNSLH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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