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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PPIP5K2 Gene

protein-coding   GIFtS: 53
GCID: GC05P102455

Diphosphoinositol Pentakisphosphate Kinase 2

(Previous name: histidine acid phosphatase domain containing 1)
(Previous symbol: HISPPD1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Diphosphoinositol Pentakisphosphate Kinase 21 2 3     Histidine Acid Phosphatase Domain Containing 11
HISPPD11 2 3 5     IP7K22
VIP22 3 5     Inositol Heptaphosphate Kinase 22
Histidine Acid Phosphatase Domain-Containing Protein 12 3     Inositol Hexakisphosphate And Diphosphoinositol-Pentakisphosphate Kinase 22
InsP6 And PP-IP5 Kinase 22 3     EC 2.7.4.213
VIP1 Homolog 22 3     EC 2.7.4.243
KIAA04333 5     hsVIP23

External Ids:    HGNC: 290351   Entrez Gene: 232622   Ensembl: ENSG000001457257   OMIM: 6116485   UniProtKB: O433143   

Export aliases for PPIP5K2 gene to outside databases

Previous GC identifer: GC05P097646


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PPIP5K2 Gene:
Inositol phosphates (IPs) and diphosphoinositol phosphates (PP-IPs), also known as inositol pyrophosphates, act as
cell signaling molecules. HISPPD1 has both IP6 kinase (EC 2.7.4.21) and PP-IP5 (also called IP7) kinase (EC
2.7.4.24) activities that produce the high-energy pyrophosphates PP-IP5 and PP2-IP4 (also called IP8),
respectively (Fridy et al., 2007 (PubMed 17690096)).(supplied by OMIM, Mar 2008)

GeneCards Summary for PPIP5K2 Gene: 
PPIP5K2 (diphosphoinositol pentakisphosphate kinase 2) is a protein-coding gene. Diseases associated with PPIP5K2 include mhc class ii deficiency, and priapism, and among its related super-pathways are Synthesis of IPs in the nucleus and Inositol phosphate metabolism. GO annotations related to this gene include inositol hexakisphosphate 1-kinase activity and kinase activity. An important paralog of this gene is PPIP5K1.

UniProtKB/Swiss-Prot: VIP2_HUMAN, O43314
Function: Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to
synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate,
PP-InsP5, and bis-diphosphoinositol tetrakisphosphate, (PP)2-InsP4. PP-InsP5 and (PP)2-InsP4, also respectively
called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking,
cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation. Phosphorylates inositol
hexakisphosphate (InsP6) at positions 1 or 3 to produce PP-InsP5 which is in turn phosphorylated by IP6Ks to
produce (PP)2-InsP4. Alternatively, phosphorylates at position 1 or 3 PP-InsP5, produced by IP6Ks from InsP6, to
produce (PP)2-InsP4




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_034772.6  NC_018916.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for PPIP5K2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPPIP5K2 promoter sequence
   Search SABiosciences Chromatin IP Primers for PPIP5K2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PPIP5K2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q21.1   Ensembl cytogenetic band:  5q21.1   HGNC cytogenetic band: 5q21.1

PPIP5K2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PPIP5K2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P102455:  view genomic region     (about GC identifiers)

Start:
102,455,853 bp from pter      End:
102,548,500 bp from pter
Size:
92,648 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: VIP2_HUMAN, O43314 (See protein sequence)
Recommended Name: Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2  
Size: 1243 amino acids; 140407 Da
Subcellular location: Cytoplasm, cytosol
Sequence caution: Sequence=BAA24863.2; Type=Erroneous initiation; Sequence=EAW49076.1; Type=Erroneous gene model
prediction;
6/10 PDB 3D structures from and Proteopedia for PPIP5K2 (see all 10):
3T54 (3D)        3T7A (3D)        3T99 (3D)        3T9A (3D)        3T9B (3D)        3T9C (3D)    
Secondary accessions: A1NI53 A6NGS8 Q8TB50
Alternative splicing: 2 isoforms:  O43314-1   O43314-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PPIP5K2: NX_O43314

Explore proteomics data for PPIP5K2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O43314

  • PPIP5K2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PPIP5K2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001263206.1  NP_001268400.1  NP_056031.2  

    ENSEMBL proteins: 
     ENSP00000421513   ENSP00000313070   ENSP00000422525   ENSP00000465165   ENSP00000351126  
     ENSP00000467529   ENSP00000424535   ENSP00000424948   ENSP00000467099   ENSP00000416016  
    Reactome Protein details: O43314
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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    PPIP5K2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR000560 His_Pase_superF_clade-2

    Graphical View of Domain Structure for InterPro Entry O43314

    ProtoNet protein and cluster: O43314

    1 Blocks protein domain: IPB000560 Histidine acid phosphatase

    UniProtKB/Swiss-Prot: VIP2_HUMAN, O43314
    Domain: The polyphosphoinositide-binding domain mediates binding of PtdIns(3,4,5)P3 and InsP6. Despite its
    similarity with the phosphatase domain of histidine acid phosphatases, it has no phosphatase activity
    Similarity: Belongs to the histidine acid phosphatase family. VIP1 subfamily


    PPIP5K2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VIP2_HUMAN, O43314
    Function: Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to
    synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate,
    PP-InsP5, and bis-diphosphoinositol tetrakisphosphate, (PP)2-InsP4. PP-InsP5 and (PP)2-InsP4, also respectively
    called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking,
    cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation. Phosphorylates inositol
    hexakisphosphate (InsP6) at positions 1 or 3 to produce PP-InsP5 which is in turn phosphorylated by IP6Ks to
    produce (PP)2-InsP4. Alternatively, phosphorylates at position 1 or 3 PP-InsP5, produced by IP6Ks from InsP6, to
    produce (PP)2-InsP4
    Catalytic activity: ATP + 1D-myo-inositol hexakisphosphate = ADP + 1D-myo-inositol 5-diphosphate
    1,2,3,4,6-pentakisphosphate
    Catalytic activity: ATP + 1D-myo-inositol 1,3,4,5,6-pentakisphosphate = ADP + 1D-myo-inositol diphosphate
    tetrakisphosphate (isomeric configuration unknown)
    Catalytic activity: ATP + 1D-myo-inositol 5-diphosphate pentakisphosphate = ADP + 1D-myo-inositol bisdiphosphate
    tetrakisphosphate (isomeric configuration unknown)
    Biophysicochemical properties: Kinetic parameters: KM=0.13 uM for InsP6; KM=0.19 uM for InsP7; Vmax=0.39
    nmol/min/mg enzyme with InsP6 as substrate; Vmax=1.38 nmol/min/mg enzyme with InsP7 as substrate;

         Enzyme Numbers (IUBMB): EC 2.7.4.241 EC 2.7.4.211

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000827inositol-1,3,4,5,6-pentakisphosphate kinase activity ISS--
    GO:0000832inositol hexakisphosphate 5-kinase activity ISS--
    GO:0003993acid phosphatase activity IEA--
    GO:0005524ATP binding IEA--
    GO:0016301kinase activity ----
         
    PPIP5K2 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PPIP5K2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1inositol pyrophosphates biosynthesis
    inositol pyrophosphates biosynthesis0.57
    Synthesis of pyrophosphates in the cytosol0.42
    2Inositol phosphate metabolism
    superpathway of inositol phosphate compounds0.60
    3Synthesis of IP3 and IP4 in the cytosol
    Inositol phosphate metabolism0.57
    4Metabolism
    Metabolism0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for PPIP5K2
        inositol pyrophosphates biosynthesis
    superpathway of inositol phosphate compounds

    3        Reactome Pathways for PPIP5K2
        Metabolism
    Synthesis of pyrophosphates in the cytosol
    Inositol phosphate metabolism



    PPIP5K2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PPIP5K2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/18 Interacting proteins for PPIP5K2 (O433143 ENSP000003130704) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    SUMO1P631653, ENSP000003760764I2D: score=1 STRING: ENSP00000376076
    TFIP11Q9UBB93I2D: score=5 
    MEF2DQ148143I2D: score=1 
    IP6K1ENSP000003237804STRING: ENSP00000323780
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006020inositol metabolic process ISS--
    GO:0043647inositol phosphate metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    PPIP5K2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PPIP5K2 (VIP2)

    Search CenterWatch for drugs/clinical trials and news about PPIP5K2 / VIP2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PPIP5K2 gene (3 alternative transcripts): 
    NM_001276277.1  NM_001281471.1  NM_015216.3  

    Unigene Cluster for PPIP5K2:

    Diphosphoinositol pentakisphosphate kinase 2
    Hs.212046  [show with all ESTs]
    Unigene Representative Sequence: NR_074081
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000515845 ENST00000321521(uc010jbo.2 uc003koe.3 uc003kof.3)
    ENST00000507921 ENST00000504275 ENST00000358359(uc011cva.2 uc003kod.4)
    ENST00000513500 ENST00000502481 ENST00000507310 ENST00000509597 ENST00000508935
    ENST00000511724 ENST00000507966 ENST00000511022 ENST00000510672 ENST00000504083
    ENST00000414217
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    Additional mRNA sequence: 

    AB007893.1 AK025159.1 AK027116.1 AK294787.1 BC024591.1 JQ313907.1 NR_074081.1 

    13 DOTS entries:

    DT.97845967  DT.315142  DT.97845969  DT.75154908  DT.99964844  DT.100659469  DT.75106156  DT.92433068 
    DT.95071358  DT.120859894  DT.92433066  DT.92433067  DT.95287244 

    24/173 AceView cDNA sequences (see all 173):

    BE157258 AW027424 AW117893 AA704448 BQ022621 AL521758 BU633495 BM479072 
    BM468670 CB158169 AW663177 CA436909 AL134362 NM_015216 BM802944 BM467990 
    BE674849 BC024591 CA425941 BP338856 BE887323 AL704072 AI057425 BM479657 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for PPIP5K2 (see all 10)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                      -     -                                                                                                               
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25 ^ 26
    SP1:                          -                 -     -               
    SP2:                                                                  
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for PPIP5K2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PPIP5K2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTTGTAAAC
    PPIP5K2 Expression
    About this image


    See PPIP5K2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PPIP5K2

    SOURCE GeneReport for Unigene cluster: Hs.212046
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PPIP5K2 gene from 9/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ppip5k21 , 5 diphosphoinositol pentakisphosphate kinase 21, 5 88.63(n)1
    94.84(a)1
      1 (47.76 cM)5
    2273991  NM_173760.41  NP_776121.31 
     977060485 
    chicken
    (Gallus gallus)
    Aves PPIP5K21 diphosphoinositol pentakisphosphate kinase 2 82.84(n)
    89.17(a)
      427276  XM_424859.3  XP_424859.3 
    lizard
    (Anolis carolinensis)
    Reptilia PPIP5K26
    diphosphoinositol pentakisphosphate kinase 2
    85(a)
    1 ↔ 1
    GL343193.1(1706491-1781399)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.189712 Xenopus laevis transcribed sequence with moderate similarity more 80.03(n)    CA791032.1 
    zebrafish
    (Danio rerio)
    Actinopterygii im:71377781 im:7137778 74.98(n)
    87.67(a)
      449862  XM_002663490.1  XP_002663536.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F46F11.16
    Inositol hexakisphosphate and diphosphoinositol-pe...
    41(a)
    1 → many
    I(5627817-5637617)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VIP16
    Inositol hexakisphosphate (IP6) and inositol hepta...
    28(a)
    1 → many
    XII(937541-940981)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G013101 phosphoglycerate mutase-like-like protein 56.31(n)
    52.62(a)
      821297  NM_001035537.2  NP_001030614.1 
    rice
    (Oryza sativa)
    Liliopsida Os.191642 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.28(n)    AK064988.1 


    ENSEMBL Gene Tree for PPIP5K2 (if available)
    TreeFam Gene Tree for PPIP5K2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PPIP5K2 gene
    PPIP5K12  
    7 SIMAP similar genes for PPIP5K2 using alignment to 8 protein entries:     VIP2_HUMAN (see all proteins):
    MTA3    ZNF568    NSD1    PPIP5K1    HKR1    NSRP1
    ATL2

    PPIP5K2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PPIP5K2
    PGOHUM00000244071


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1553 SNPs in PPIP5K2 are shown (see all 1553)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1167690811,2
    C,F--102457938(+) GGAGGA/TAAAAA 2 -- int11Minor allele frequency- T:0.02NA 120
    rs347851,2
    C,F,H--102458103(+) AATGGC/TGGATA 2 -- int119Minor allele frequency- T:0.26MN NS EA NA CSA WA 2526
    rs347861,2
    C,F,O--102458113(+) AGGAAC/GTTTCA 2 -- int112Minor allele frequency- G:0.22NA MN CSA WA EA 706
    rs800449871,2
    F--102458133(+) GTGAAT/CTCCAG 2 -- int11Minor allele frequency- C:0.03NA 120
    rs1881941331,2
    --102458180(+) ATGAAC/TGTTTG 2 -- int10--------
    rs1924260061,2
    --102458190(+) GAAGAA/GGGAAA 2 -- int10--------
    rs771420981,2
    C,F--102458323(+) CTATTG/AGTGGA 2 -- int12Minor allele frequency- A:0.05WA NA 238
    rs171550751,2
    C,F,H--102458408(+) GCGTTT/CAGGCT 2 -- int114Minor allele frequency- C:0.10NA NS EA CSA WA 1754
    rs1493290141,2
    C--102458468(+) TTTACC/TAGTTT 2 -- int10--------
    rs1435804811,2
    --102458482(+) GTTGGA/GCTCCT 2 -- int10--------

    HapMap Linkage Disequilibrium report for PPIP5K2 (102455853 - 102548500 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PPIP5K2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv882520CNV Loss21882294
    nsv882519CNV Loss21882294
    nsv882521CNV Loss21882294
    nsv830430CNV Gain17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611648    OMIM disorders: --

    2 diseases for PPIP5K2:    About MalaCards
    mhc class ii deficiency    priapism


    PPIP5K2 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: PPIP5K2 (2 documents)

    Export disorders for PPIP5K2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PPIP5K2 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with PPIP5K2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of two human VIP1-like inositol hexakisphosphate and diphosphoinositol pentakisphosphate kinases. (PubMed id 17690096)1, 2, 3 Fridy P.C.... York J.D. (2007)
    2. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9455477)1, 2, 3 Ishikawa K....Ohara O. (1997)
    3. Structural basis for an inositol pyrophosphate kinase surmounting phosphate crowding. (PubMed id 22119861)1, 2 Wang H....Shears S.B. (2012)
    4. Structural analysis and detection of biological inosi tol pyrophosphates reveal that the family of VIP/diphosphoinositol pentakisphos phate kinases are 1/3-kinases. (PubMed id 18981179)1, 3 Lin H....Mayr G.W. (2009)
    5. Purification, sequencing, and molecular identification of a mammalian PP-InsP5 kinase that is activated when cells are exposed to hyperosmotic stress. (PubMed id 17702752)1, 2 Choi J.H.... Shears S.B. (2007)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Receptor-dependent compartmentalization of PPIP5K1, a kinase with a cryptic polyphosphoinositide binding domain. (PubMed id 21222653)2 Gokhale N.A....Shears S.B. (2011)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23262 HGNC: 29035 AceView: KIAA0433 Ensembl:ENSG00000145725 euGenes: HUgn23262
    ECgene: PPIP5K2 H-InvDB: PPIP5K2

    (According to HUGE)
    About This Section
    HUGE: KIAA0433

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PPIP5K2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PPIP5K2 gene:
    Search GeneIP for patents involving PPIP5K2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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