mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for PPIP5K2
Gene summary
Basic gene Info.Gene symbolPPIP5K2
Gene namediphosphoinositol pentakisphosphate kinase 2
SynonymsHISPPD1|IP7K2|VIP2
CytomapUCSC genome browser: 5q21.1
Type of geneprotein-coding
RefGenesNR_074081.1,
NM_001276277.1,NM_001281471.1,NM_015216.3,
DescriptionVIP1 homolog 2histidine acid phosphatase domain-containing protein 1inositol heptaphosphate kinase 2inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2insP6 and PP-IP5 kinase 2
Modification date20141207
dbXrefs MIM : 611648
HGNC : HGNC
Ensembl : ENSG00000145725
HPRD : 13802
Vega : OTTHUMG00000181461
ProteinUniProt: O43314
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PPIP5K2
BioGPS: 23262
PathwayNCI Pathway Interaction Database: PPIP5K2
KEGG: PPIP5K2
REACTOME: PPIP5K2
Pathway Commons: PPIP5K2
ContextiHOP: PPIP5K2
ligand binding site mutation search in PubMed: PPIP5K2
UCL Cancer Institute: PPIP5K2
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for PPIP5K2

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
V185P183LBRCA1
E279G277ECOAD1
N323G324ALUSC1
P149R150HSTAD1
N323G324DUCEC1
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 PPIP5K2
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

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.
LBSAAchange of nsSNVRelative stability change
P149R150H-1.84973
E279G277E-0.89077279
N323G324A-0.4894179
N323G324D-0.40376146
V185P183L-0.30704223
(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 PPIP5K2 from PDB

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Differential gene expression and gene-gene network for PPIP5K2
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)
* Left PPI network was created from samples with mutations in the LBS of PPIP5K2 and the right PPI network was created from samples without mutations in the LBS of PPIP5K2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for PPIP5K2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for PPIP5K2
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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of PPIP5K2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
I7P5-DIPHOSPHO-1D-MYO-INOSITOL PENTAKISPHOSPHATE3t9dAE279
MGMAGNESIUM(2+)3t7aAN323
MGMAGNESIUM(2+)3t99AN323
MGMAGNESIUM(2+)3t9aAN323
MGMAGNESIUM(2+)3t9bAN323
MGMAGNESIUM(2+)3t9cAN323
MGMAGNESIUM(2+)3t9dAN323
I7P5-DIPHOSPHO-1D-MYO-INOSITOL PENTAKISPHOSPHATE3t9eAN323
MGMAGNESIUM(2+)3t9eAN323
MGFTRIFLUOROMAGNESATE(1-)3t9eAN323
I8P1,5-BIS(DIPHOSPHO)-1D-MYO-INOSITOL 2,3,4,6-TETRAKISPHOSPHATE3t9fAN323
MGMAGNESIUM(2+)4hn2AN323
MGMAGNESIUM(2+)4nzmAN323
MGMAGNESIUM(2+)4nznAN323
MGMAGNESIUM(2+)4nzoAN323
I8P1,5-BIS(DIPHOSPHO)-1D-MYO-INOSITOL 2,3,4,6-TETRAKISPHOSPHATE4q4cAN323
MGMAGNESIUM(2+)4q4cAN323
MGMAGNESIUM(2+)4q4dAN323
4WZ{[(1R,3S,4S,5R,6S)-2,4,5,6-TETRAKIS(PHOSPHONOOXY) CYCLOHEXANE-1,3-DIYL]BIS[OXY(HYDROXYPHOSPHORYL) METHANEDIYL]}BIS(PHOSPHONIC ACID)5byaAN323
MGMAGNESIUM(2+)5byaAN323
MGMAGNESIUM(2+)5bybAN323
ADPADP3t7aAP149 V185
ADPADP3t99AP149 V185
ADPADP3t9eAP149 V185
ADPADP3t9fAP149 V185
ADPADP4q4cAP149 V185
ADPADP5byaAP149 V185
ADPADP5bybAP149 V185
ATPATP3t54AP149 V185 N323
ANPAMP-PNP3t9aAP149 V185 N323
ANPAMP-PNP3t9bAP149 V185 N323
ANPAMP-PNP3t9cAP149 V185 N323
ANPAMP-PNP3t9dAP149 V185 N323
ANPAMP-PNP4hn2AP149 V185 N323
ANPAMP-PNP4nzmAP149 V185 N323
ANPAMP-PNP4nznAP149 V185 N323
ANPAMP-PNP4nzoAP149 V185 N323
ANPAMP-PNP4q4dAP149 V185 N323


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Conservation information for LBS of PPIP5K2
Multiple alignments for O43314 in multiple species
LBSAA sequence# speciesSpecies
C298IAWKVCLAFKQ2Homo sapiens, Mus musculus
C298IAKKIVLAFGQ1Caenorhabditis elegans
C298ISRKVCLAFKQ1Drosophila melanogaster
C306FKQTVCGFDLL3Homo sapiens, Drosophila melanogaster, Mus musculus
C306FGQTVCGFDLL1Caenorhabditis elegans
C320GQSYVCDVNGF2Homo sapiens, Mus musculus
C320GKSYVCDVNGF2Caenorhabditis elegans, Drosophila melanogaster
D246PTDGTDVKVYT3Homo sapiens, Drosophila melanogaster, Mus musculus
D246PADGTDVKVYA1Caenorhabditis elegans
D309TVCGFDLLRAN4Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Mus musculus
D321QSYVCDVNGFS2Homo sapiens, Mus musculus
D321KSYVCDVNGFS2Caenorhabditis elegans, Drosophila melanogaster
E192KPVSAEDHNVY2Homo sapiens, Mus musculus
E192KPISSEDHNVY1Caenorhabditis elegans
E192KPVSAEDHNIY1Drosophila melanogaster
E237GSYIYEEFMPT2Homo sapiens, Mus musculus
E237GSYIYEEFIPA1Caenorhabditis elegans
E237GSFIYEDFMPT1Drosophila melanogaster
E238SYIYEEFMPTD2Homo sapiens, Mus musculus
E238SYIYEEFIPAD1Caenorhabditis elegans
E238SFIYEDFMPTD1Drosophila melanogaster
E279DSEGKEVRYPV2Homo sapiens, Mus musculus
E279DSDGKEVRYPV1Caenorhabditis elegans
E279DSEGKEIRYPV1Drosophila melanogaster
F239YIYEEFMPTDG2Homo sapiens, Mus musculus
F239YIYEEFIPADG1Caenorhabditis elegans
F239FIYEDFMPTDG1Drosophila melanogaster
F70ERISLF--KYI2Homo sapiens, Mus musculus
F70KKIIDFYGQWV1Caenorhabditis elegans
F70TRLGEF--EFI1Drosophila melanogaster
H101CLISFHSKGFP2Homo sapiens, Mus musculus
H101CLVSFHSTEFP1Caenorhabditis elegans
H101CLVSFHSKGFP1Drosophila melanogaster
H194VSAEDHNVYIY2Homo sapiens, Mus musculus
H194ISSEDHNVYIY1Caenorhabditis elegans
H194VSAEDHNIYIY1Drosophila melanogaster
I73F--KYITVVVF2Homo sapiens, Mus musculus
I73FYGQWVDSFIF1Caenorhabditis elegans
I73F--EFIKLVTF1Drosophila melanogaster
K103ISFHSKGFPLD2Homo sapiens, Mus musculus
K103VSFHSTEFPLE1Caenorhabditis elegans
K103VSFHSKGFPLE1Drosophila melanogaster
K187KPFVEKPVSAE3Homo sapiens, Drosophila melanogaster, Mus musculus
K187KPFVEKPISSE1Caenorhabditis elegans
K214QRLFRKIGSRS3Homo sapiens, Drosophila melanogaster, Mus musculus
K214QRLFRKINNRS1Caenorhabditis elegans
K248DGTDVKVYTVG3Homo sapiens, Drosophila melanogaster, Mus musculus
K248DGTDVKVYAVG1Caenorhabditis elegans
K329GFSFVKNSMKY2Homo sapiens, Mus musculus
K329GFSFVKTSTKY1Caenorhabditis elegans
K329GFSFVKNSNKY1Drosophila melanogaster
K53ICSMAKKSKSK2Homo sapiens, Mus musculus
K53ICAMNRKATSK1Caenorhabditis elegans
K53ICAMAKKTQSK1Drosophila melanogaster
K54CSMAKKSKSKP2Homo sapiens, Mus musculus
K54CAMNRKATSKP1Caenorhabditis elegans
K54CAMAKKTQSKP1Drosophila melanogaster
L211GGSQRLFRKIG3Homo sapiens, Drosophila melanogaster, Mus musculus
L211GGSQRLFRKIN1Caenorhabditis elegans
L311CGFDLLRANGQ2Homo sapiens, Mus musculus
L311CGFDLLRANGK2Caenorhabditis elegans, Drosophila melanogaster
M240IYEEFMPTDGT2Homo sapiens, Mus musculus
M240IYEEFIPADGT1Caenorhabditis elegans
M240IYEDFMPTDGT1Drosophila melanogaster
N323YVCDVNGFSFV4Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Mus musculus
P149EGILLPRYAIL2Homo sapiens, Mus musculus
P149NGIEHPRHGYV1Caenorhabditis elegans
P149EGIEIPRYAVL1Drosophila melanogaster
P265EARKSPALDGK3Homo sapiens, Drosophila melanogaster, Mus musculus
P265EARKAPGLDGK1Caenorhabditis elegans
Q303CLAFKQTVCGF3Homo sapiens, Drosophila melanogaster, Mus musculus
Q303VLAFGQTVCGF1Caenorhabditis elegans
R134YLIQDRREVYS1Homo sapiens
R134YDLLDRRTVFK1Caenorhabditis elegans
R134YDIQDRRRVYA1Drosophila melanogaster
R134YLIQDRRDVYS1Mus musculus
R213SQRLFRKIGSR3Homo sapiens, Drosophila melanogaster, Mus musculus
R213SQRLFRKINNR1Caenorhabditis elegans
R262AHAEARKSPAL3Homo sapiens, Drosophila melanogaster, Mus musculus
R262AHAEARKAPGL1Caenorhabditis elegans
R273DGKVERDSEGK3Homo sapiens, Drosophila melanogaster, Mus musculus
R273DGKVERDSDGK1Caenorhabditis elegans
R281EGKEVRYPVIL2Homo sapiens, Mus musculus
R281DGKEVRYPVIL1Caenorhabditis elegans
R281EGKEIRYPVIL1Drosophila melanogaster
S102LISFHSKGFPL2Homo sapiens, Mus musculus
S102LVSFHSTEFPL1Caenorhabditis elegans
S102LVSFHSKGFPL1Drosophila melanogaster
S264AEARKSPALDG3Homo sapiens, Drosophila melanogaster, Mus musculus
S264AEARKAPGLDG1Caenorhabditis elegans
S326DVNGFSFVKNS3Homo sapiens, Drosophila melanogaster, Mus musculus
S326DVNGFSFVKTS1Caenorhabditis elegans
S68ILERISLF--K2Homo sapiens, Mus musculus
S68IMKKIIDFYGQ1Caenorhabditis elegans
S68ILTRLGEF--E1Drosophila melanogaster
T251DVKVYTVGPDY3Homo sapiens, Drosophila melanogaster, Mus musculus
T251DVKVYAVGPFY1Caenorhabditis elegans
T304LAFKQTVCGFD3Homo sapiens, Drosophila melanogaster, Mus musculus
T304LAFGQTVCGFD1Caenorhabditis elegans
V185FQKPFVEKPVS2Homo sapiens, Mus musculus
V185FNKPFVEKPIS1Caenorhabditis elegans
V185FNKPFVEKPVS1Drosophila melanogaster
V196AEDHNVYIYYP2Homo sapiens, Mus musculus
V196SEDHNVYIYYP1Caenorhabditis elegans
V196AEDHNIYIYYP1Drosophila melanogaster
V305AFKQTVCGFDL3Homo sapiens, Drosophila melanogaster, Mus musculus
V305AFGQTVCGFDL1Caenorhabditis elegans
Y250TDVKVYTVGPD3Homo sapiens, Drosophila melanogaster, Mus musculus
Y250TDVKVYAVGPF1Caenorhabditis elegans


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