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IPPK Gene

protein-coding   GIFtS: 52
GCID: GC09M095375

Inositol 1,3,4,5,6-Pentakisphosphate 2-Kinase

(Previous name: chromosome 9 open reading frame 12)
(Previous symbol: C9orf12)
  See IPPK-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)
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Aliases
Inositol 1,3,4,5,6-Pentakisphosphate 2-Kinase1 2     INSP5K22
C9orf121 2 3     IP5K2
Ins(1,3,4,5,6)P5 2-Kinase2 3     IPK12
InsP5 2-Kinase2 3     bA476B13.12
IPK1 Homolog2 3     BA476B13.1 (Novel Protein)2
EC 2.7.1.1583 8     Inositol-Pentakisphosphate 2-Kinase2
Chromosome 9 Open Reading Frame 121     Inositol-1,3,4,5,6-Pentakisphosphate 2-Kinase3

External Ids:    HGNC: 146451   Entrez Gene: 647682   Ensembl: ENSG000001270807   UniProtKB: Q9H8X23   

Export aliases for IPPK gene to outside databases

Previous GC identifers: GC09M092457 GC09M094415 GC09M065053


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for IPPK Gene:
The protein encoded by this gene is a kinase that phosphorylates position 2 of
inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety
of functions, including stimulation of DNA repair, endocytosis, and mRNA export. (provided by RefSeq, Nov 2010)

GeneCards Summary for IPPK Gene:
IPPK (inositol 1,3,4,5,6-pentakisphosphate 2-kinase) is a protein-coding gene. Diseases associated with IPPK include heart septal defect, and atrial heart septal defect. GO annotations related to this gene include inositol pentakisphosphate 2-kinase activity.

UniProtKB/Swiss-Prot: IPPK_HUMAN, Q9H8X2
Function: Phosphorylates Ins(1,3,4,5,6)P5 at position 2 to form Ins(1,2,3,4,5,6)P6 (InsP6 or phytate). InsP6 is
involved in many processes such as mRNA export, non-homologous end-joining, endocytosis, ion channel regulation.
It also protects cells from TNF-alpha-induced apoptosis




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the IPPK gene promoter:
         GATA-3   XBP-1   Nkx2-5   NF-E2 p45   GATA-1   GATA-2   FOXO1a   NF-E2   Hlf   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIPPK promoter sequence
   Search Chromatin IP Primers for IPPK

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IPPK


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

Entrez Gene cytogenetic band: 9q22.31   Ensembl cytogenetic band:  9q22.31   HGNC cytogenetic band: 9q22.31

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M095375:  view genomic region     (about GC identifiers)

Start:
95,375,466 bp from pter      End:
95,432,547 bp from pter
Size:
57,082 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: IPPK_HUMAN, Q9H8X2 (See protein sequence)
Recommended Name: Inositol-pentakisphosphate 2-kinase  
Size: 491 amino acids; 56017 Da
Sequence caution: Sequence=BAB14866.1; Type=Erroneous initiation; Sequence=CAI12593.1; Type=Erroneous gene model
prediction;
Secondary accessions: Q5T9F7 Q9H7V8

Explore the universe of human proteins at neXtProt for IPPK: NX_Q9H8X2

Explore proteomics data for IPPK at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for IPPK (Q9H8X2)
     LQIDGPYDE  TAKDCSIMI 


    See IPPK Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_073592.1  
    ENSEMBL proteins: 
     ENSP00000287996   ENSP00000364672  
    Reactome Protein details: Q9H8X2

    IPPK Human Recombinant Protein Products:

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    Novus Biologicals IPPK Lysates
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    Cloud-Clone Corp. Proteins for IPPK

     
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    antibodies-online proteins for IPPK (10 products) 

     
    antibodies-online peptides for IPPK

    IPPK Antibody Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR009286 Ins_P5_2-kin

    Graphical View of Domain Structure for InterPro Entry Q9H8X2

    ProtoNet protein and cluster: Q9H8X2

    UniProtKB/Swiss-Prot: IPPK_HUMAN, Q9H8X2
    Domain: The EXKPK motif is conserved in inositol-pentakisphosphate 2-kinases of both family 1 and 2
    Similarity: Belongs to the IPK1 type 2 family


    Find genes that share domains with IPPK           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IPPK_HUMAN, Q9H8X2
    Function: Phosphorylates Ins(1,3,4,5,6)P5 at position 2 to form Ins(1,2,3,4,5,6)P6 (InsP6 or phytate). InsP6 is
    involved in many processes such as mRNA export, non-homologous end-joining, endocytosis, ion channel regulation.
    It also protects cells from TNF-alpha-induced apoptosis
    Catalytic activity: ATP + 1D-myo-inositol 1,3,4,5,6-pentakisphosphate = ADP + 1D-myo-inositol hexakisphosphate
    Biophysicochemical properties: Kinetic parameters: KM=0.43 uM for Ins(1,3,4,5,6)P5; KM=21 uM for ATP; Vmax=31
    nmol/min/mg enzyme;

         Enzyme Number (IUBMB): EC 2.7.1.1581 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
    GO:0035299inositol pentakisphosphate 2-kinase activity IDA12084730
         
    Find genes that share ontologies with IPPK           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Ippk):
     mortality/aging 

    Find genes that share phenotypes with IPPK           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for IPPK

    miRNA
    Products:
        
    miRTarBase miRNAs that target IPPK:
    hsa-mir-590-3p (MIRT016168), hsa-mir-103a-3p (MIRT027187), hsa-mir-16-5p (MIRT031925)

    Block miRNA regulation of human, mouse, rat IPPK using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate IPPK (see all 68):
    hsa-miR-140-5p hsa-miR-520f hsa-miR-376b hsa-miR-15a hsa-miR-199a-3p hsa-miR-1224-3p hsa-miR-1260b hsa-miR-1258
    SwitchGear 3'UTR luciferase reporter plasmidIPPK 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IPPK_HUMAN, Q9H8X2: Cytoplasm (By similarity). Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus4

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA12084730
    GO:0005654nucleoplasm TAS--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with IPPK           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for IPPK About    
    See pathways by source

    SuperPathContained pathways About
    1Inositol phosphate metabolism (KEGG)
    Inositol phosphate metabolism0.61
    1D-myo-inositol hexakisphosphate biosynthesis V (from Ins(1,3,4)P3)0.00
    Phosphatidylinositol signaling system0.61
    1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)0.00
    superpathway of inositol phosphate compounds0.60
    2Inositol phosphate metabolism (REACTOME)
    Inositol phosphate metabolism0.59
    inositol pyrophosphates biosynthesis0.00
    Synthesis of IPs in the nucleus0.00
    Synthesis of pyrophosphates in the cytosol0.00
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38


    Find genes that share SuperPaths with IPPK           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for IPPK
        1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)
    inositol pyrophosphates biosynthesis
    1D-myo-inositol hexakisphosphate biosynthesis V (from Ins(1,3,4)P3)
    superpathway of inositol phosphate compounds

    2 Reactome Pathways for IPPK
        Synthesis of IPs in the nucleus
    Synthesis of pyrophosphates in the cytosol


    3 Kegg Pathways  (Kegg details for IPPK):
        Inositol phosphate metabolism
    Metabolic pathways
    Phosphatidylinositol signaling system

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for IPPK
    Interactions:

        Search GeneGlobe Interaction Network for IPPK

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for IPPK (ENSP000002879964) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IP6K1ENSP000003237804STRING: ENSP00000323780
    IP6K2ENSP000003311034STRING: ENSP00000331103
    IP6K3ENSP000002937564STRING: ENSP00000293756
    IPMKENSP000003630464STRING: ENSP00000363046
    ITPK1ENSP000002676154STRING: ENSP00000267615
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0043647inositol phosphate metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0052746inositol phosphorylation IDA12084730

    Find genes that share ontologies with IPPK           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    Browse Tocris compounds for IPPK

    4 HMDB Compounds for IPPK    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Inositol 1,3,4,5,6-pentakisphosphate1D-myo-Inositol 1,3,4,5,6-pentakisphosphate (see all 5)20298-95-7--
    Myo-inositol hexakisphosphate1D-myo-Inositol 1,2,3,4,5,6-hexakisphosphate (see all 9)83-86-3--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for IPPK gene: 
    NM_022755.5  

    Unigene Cluster for IPPK:

    Inositol 1,3,4,5,6-pentakisphosphate 2-kinase
    Hs.459896  [show with all ESTs]
    Unigene Representative Sequence: NM_022755
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000287996(uc004ask.1 uc004asl.1) ENST00000486841 ENST00000375522

    miRNA
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    hsa-miR-140-5p hsa-miR-520f hsa-miR-376b hsa-miR-15a hsa-miR-199a-3p hsa-miR-1224-3p hsa-miR-1260b hsa-miR-1258
    SwitchGear 3'UTR luciferase reporter plasmidIPPK 3' UTR sequence
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    Additional mRNA sequence: 

    AF351200.1 AF351202.1 AF520811.1 AK023225.1 AK024267.1 BC026154.2 

    12 DOTS entries:

    DT.99976581  DT.99977485  DT.95372754  DT.213558  DT.121154288  DT.100747010  DT.95120509  DT.121154194 
    DT.408172  DT.100714130  DT.101960109  DT.95372757 

    Selected AceView cDNA sequences (see all 95):

    AA766264 CF122254 CO403300 AW103047 BM794579 AI935135 AI087226 AW009360 
    BC026154 AI963115 NM_022755 AI922155 BI850493 AU131742 BM476798 BM718532 
    AF351200 AI185364 BG682005 AK023225 AA336588 AF351202 AK096392 AF351201 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for IPPK    About this scheme

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


    ECgene alternative splicing isoforms for IPPK

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    IPPK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    IPPK Expression
    About this image


    IPPK expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Kidney (Urinary System)
             Metanephros
    IPPK Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IPPK Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.459896

    UniProtKB/Swiss-Prot: IPPK_HUMAN, Q9H8X2
    Tissue specificity: Ubiquitously expressed, with high expression in heart, brain, testis and placenta

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    In Situ
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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for IPPK gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ippk1 , 5 inositol 1,3,4,5,6-pentakisphosphate 2-kinase1, 5 87.8(n)1
    91.41(a)1
      13 (25.25 cM)5
    756781  NM_199056.31  NP_951011.11 
     494213115 
    chicken
    (Gallus gallus)
    Aves IPPK1 inositol 1,3,4,5,6-pentakisphosphate 2-kinase 74.88(n)
    79.84(a)
      415951  XM_414295.3  XP_414295.1 
    lizard
    (Anolis carolinensis)
    Reptilia IPPK6
    inositol 1,3,4,5,6-pentakisphosphate 2-kinase
    76(a)
    1 ↔ 1
    2(156015859-156059081)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.97672 Transcribed sequence with moderate similarity to protein more 75.85(n)    BX692344.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ippk1 inositol 1,3,4,5,6-pentakisphosphate 2-kinase 61.8(n)
    56.78(a)
      541511  NM_001014324.1  NP_001014346.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ipk16
    Ipk1
    17(a)
    1 ↔ 1
    2R(16758296-16766632)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons IPK11 IPK1 46.94(n)
    38.48(a)
      834292  NM_123646.3  NP_568613.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g06612001 Os04g0661200 48.99(n)
    34.88(a)
      4337286  NM_001060682.1  NP_001054147.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IPPK gene

    Find genes that share paralogs with IPPK           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for IPPK
    PGOHUM00000248321


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for IPPK (see all 1083)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs113652461,2
    C--65077294(+) ATTTA-/AAAAAA 1 -- int1 trp31Minor allele frequency- A:0.00NA 2
    rs2005602161,2
    C--65112726(+) AGGCG-/TGGGGG 1 -- us2k10--------
    rs1813799981,2
    --95392875(+) TCAAAA/GGGCAA 1 -- ds50010--------
    rs413015311,2
    C,F--95393026(+) CAGCCG/ATAGGT 1 -- ds50012Minor allele frequency- A:0.04WA NA 238
    rs22818881,2
    C,F,A,H--95393050(-) GGAGAT/CGGAGT 1 -- ds500122Minor allele frequency- C:0.42EA NS NA WA CSA 3846
    rs1432783121,2
    --95393139(+) AAAACA/GAAAGA 1 -- ds50010--------
    rs2014216291,2
    C--95393176(+) TACCCG/AGTTTA 1 -- ds50011Minor allele frequency- A:0.00EU 1305
    rs2009752191,2
    C,F--95393229(+) TAGAAA/GCTGCT 1 -- ds50011Minor allele frequency- G:0.00EU 1319
    rs1476932211,2
    C,F--95393313(+) GTGCAG/CAGGAG 1 -- ds50012Minor allele frequency- C:0.00NA EU 5839
    rs727544951,2
    C--95393344(+) TGAACG/ATGGAG 1 -- ds50011Minor allele frequency- A:0.00EU 1185

    HapMap Linkage Disequilibrium report for IPPK (95375466 - 95432547 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for IPPK: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IPPK
    DNA2.0 Custom Variant and Variant Library Synthesis for IPPK

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    2 diseases for IPPK:    
    About MalaCards
    heart septal defect    atrial heart septal defect

    2 diseases from the University of Copenhagen DISEASES database for IPPK:
    Tetralogy of Fallot     Atrial heart septal defect

    Find genes that share disorders with IPPK           About GenesLikeMe

    Genetic Association Database (GAD): IPPK

    Export disorders for IPPK 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)
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    PubMed articles for IPPK gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with IPPK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The synthesis of inositol hexakisphosphate. Characterization of human inositol 1,3,4,5,6-pentakisphosphate 2-kinase. (PubMed id 12084730)1, 2, 3, 9 Verbsky J.W.... Wente S.R. (J. Biol. Chem. 2002)
    2. Increased levels of inositol hexakisphosphate (InsP6) protect HEK293 cells from tumor necrosis factor (alpha)- and Fas-induced apoptosis. (PubMed id 15967797)1, 2, 9 Verbsky J. and Majerus P.W. (J. Biol. Chem. 2005)
    3. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PubMed id 20881960)1, 4 Lango Allen H....Hirschhorn J.N. (Nature 2010)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    7. Conformational stability of inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPK1) dictates its substrate selectivity. (PubMed id 24165122)1 Gosein V. and Miller G.J. (J. Biol. Chem. 2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    10. Physiological levels of PTEN control the size of the cellular Ins(1,3,4,5,6)P(5) pool. (PubMed id 15979280)1 Deleu S....Shears S.B. (Cell. Signal. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 64768 HGNC: 14645 AceView: C9orf12 Ensembl:ENSG00000127080 euGenes: HUgn64768
    ECgene: IPPK Kegg: 64768 H-InvDB: IPPK

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for IPPK Pharmacogenomics, SNPs, Pathways

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

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



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