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mutLBSgeneDB |
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| Gene summary for PI4K2A |
 Gene summary |
| Basic gene Info. | Gene symbol | PI4K2A |
| Gene name | phosphatidylinositol 4-kinase type 2 alpha | |
| Synonyms | PI4KII|PIK42A | |
| Cytomap | UCSC genome browser: 10q24 | |
| Type of gene | protein-coding | |
| RefGenes | NM_018425.3, | |
| Description | phosphatidylinositol 4-kinase type 2-alphaphosphatidylinositol 4-kinase type II (PI4KII)phosphatidylinositol 4-kinase type II-alpha | |
| Modification date | 20141218 | |
| dbXrefs | MIM : 609763 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000155252 | ||
| HPRD : 11431 | ||
| Vega : OTTHUMG00000018863 | ||
| Protein | UniProt: Q9BTU6 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PI4K2A | |
| BioGPS: 55361 | ||
| Pathway | NCI Pathway Interaction Database: PI4K2A | |
| KEGG: PI4K2A | ||
| REACTOME: PI4K2A | ||
| Pathway Commons: PI4K2A | ||
| Context | iHOP: PI4K2A | |
| ligand binding site mutation search in PubMed: PI4K2A | ||
| UCL Cancer Institute: PI4K2A | ||
| 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:0006661 | phosphatidylinositol biosynthetic process | 11279162 | GO:0046854 | phosphatidylinositol phosphorylation | 25168678 |
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| Ligand binding site mutations for PI4K2A |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F139 | F139V | KIRC | 1 | Q261 | S259L | STAD | 1 | V264 | E265K | 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 PI4K2A |
| 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 | Q261 | S259L | 0.031448733 | F139 | F139V | -1.172222 | V264 | E265K | -0.3776353 |
| (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 PI4K2A from PDB |
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| Differential gene expression and gene-gene network for PI4K2A |
| 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 PI4K2A |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PI4K2A |
| 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 PI4K2A go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ADP | ADP | 4hnd | A | F139 Q261 V264 | ADP | ADP | 4hne | A | F139 Q261 V264 | ADP | ADP | 4hnd | B | Q261 V264 | ADP | ADP | 4hne | B | Q261 V264 | ATP | ATP | 4pla | A | Q261 V264 | M59 | [(1S,3S,4S)-3-(6-AMINO-9H-PURIN-9-YL) BICYCLO[2.2.1]HEPT-1-YL]METHANOL | 4yc4 | A | Q261 V264 |
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| Conservation information for LBS of PI4K2A |
| Multiple alignments for Q9BTU6 in multiple species |
| LBS | AA sequence | # species | Species | A367 | YPFYWAWLPQA | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus | D312 | TDRGNDNWLIK | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus | D346 | KVAAIDNGLAF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D346 | KLAAIDNGLAF | 1 | Danio rerio | D346 | KIAAIDNGLAF | 1 | Xenopus tropicalis | F139 | SSGSYFVKDSQ | 2 | Mus musculus, Rattus norvegicus | F139 | SSGSYFVKDPQ | 1 | Homo sapiens | F139 | SSGSYFVKDSA | 1 | Danio rerio | F139 | SSGSYFVKNEQ | 1 | Xenopus tropicalis | F263 | GSFQLFVEGYK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F263 | GSFQIFVEGYK | 1 | Danio rerio | F263 | GSFQLFVKGYK | 1 | Xenopus tropicalis | F364 | WRAYPFYWAWL | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus | G133 | ERIYQGSSGSY | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | G133 | ERISQGSSGSY | 1 | Xenopus tropicalis | I130 | IYPERIYQGSS | 3 | Danio rerio, Mus musculus, Rattus norvegicus | I130 | IFPERIYQGSS | 1 | Homo sapiens | I130 | ILPERISQGSS | 1 | Xenopus tropicalis | I345 | IKVAAIDNGLA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I345 | IKLAAIDNGLA | 1 | Danio rerio | I345 | IKIAAIDNGLA | 1 | Xenopus tropicalis | K152 | IIAVFKPKNEE | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | K152 | IIGVFKPKNEE | 1 | Danio rerio | K152 | IVAVFKPKNEE | 1 | Mus musculus | L262 | VGSFQLFVEGY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L262 | VGSFQIFVEGY | 1 | Danio rerio | L262 | VGSFQLFVKGY | 1 | Xenopus tropicalis | P209 | ELNIVPRTKVV | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus | P363 | SWRAYPFYWAW | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus | P448 | LVQMPPVIVET | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | P448 | LVQTPPVIVET | 1 | Xenopus tropicalis | Q132 | PERIYQGSSGS | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | Q132 | PERISQGSSGS | 1 | Xenopus tropicalis | Q261 | KVGSFQLFVEG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q261 | KVGSFQIFVEG | 1 | Danio rerio | Q261 | KVGSFQLFVKG | 1 | Xenopus tropicalis | Q445 | PLHLVQMPPVI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q445 | PLQLVQMPPVI | 1 | Danio rerio | Q445 | PLQLVQTPPVI | 1 | Xenopus tropicalis | R360 | HPDSWRAYPFY | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus | S134 | RIYQGSSGSYF | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | S134 | RISQGSSGSYF | 1 | Xenopus tropicalis | S137 | QGSSGSYFVKD | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | S137 | QGSSGSYFVKN | 1 | Xenopus tropicalis | V150 | GRIIAVFKPKN | 2 | Homo sapiens, Rattus norvegicus | V150 | GKIIGVFKPKN | 1 | Danio rerio | V150 | GEIIAVFKPKN | 1 | Xenopus tropicalis | V150 | GRIVAVFKPKN | 1 | Mus musculus | V264 | SFQLFVEGYKD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V264 | SFQIFVEGYKD | 1 | Danio rerio | V264 | SFQLFVKGYKD | 1 | Xenopus tropicalis | V444 | SPLHLVQMPPV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V444 | TPLQLVQMPPV | 1 | Danio rerio | V444 | SPLQLVQTPPV | 1 | Xenopus tropicalis | W359 | KHPDSWRAYPF | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus | W368 | PFYWAWLPQAK | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus | Y131 | YPERIYQGSSG | 3 | Danio rerio, Mus musculus, Rattus norvegicus | Y131 | FPERIYQGSSG | 1 | Homo sapiens | Y131 | LPERISQGSSG | 1 | Xenopus tropicalis | Y365 | RAYPFYWAWLP | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus |
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