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PIP4K2A Gene

protein-coding   GIFtS: 64
GCID: GC10M022823

Phosphatidylinositol-5-Phosphate 4-Kinase, Type II, Alpha

(Previous names: phosphatidylinositol-4-phosphate 5-kinase, type II, alpha)
(Previous symbol: PIP5K2A)
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(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
Phosphatidylinositol-5-Phosphate 4-Kinase, Type II, Alpha1 2     PI5P4KA2 5
PIP5K2A1 2 3 5     1-Phosphatidylinositol-4-Phosphate Kinase2
Phosphatidylinositol-4-Phosphate 5-Kinase, Type II, Alpha1 2     1-phosphatidylinositol-4-phosphate-5-kinase2
Diphosphoinositide Kinase 2-Alpha2 3     1-Phosphatidylinositol-5-Phosphate 4-Kinase 2-Alpha2
Phosphatidylinositol 5-Phosphate 4-Kinase Type II Alpha2 3     PIP5KII-alpha2
PtdIns(4)P-5-Kinase C Isoform2 3     PIP5KIIA2
PtdIns(5)P-4-Kinase Isoform 2-Alpha2 3     PIP5KIIalpha2
1-Phosphatidylinositol 5-Phosphate 4-Kinase 2-Alpha2 3     PIPK2
PIP4KII-alpha2 3     Phosphatidylinositol 5-Phosphate 4-Kinase Type-2 Alpha2
PIP5KIII2 3     Phosphatidylinositol-5-Phosphate 4-Kinase Type-2 Alpha2
PI(5)P 4-Kinase Type II Alpha2 3     Type II Phosphatidylinositol-4-Phosphate 5-Kinase 53 K Isoform2
PtdIns(4)P-5-Kinase B Isoform2 3     PIP5K23
EC 2.7.1.1493 8     EC 2.7.18

External Ids:    HGNC: 89971   Entrez Gene: 53052   Ensembl: ENSG000001508677   OMIM: 6031405   UniProtKB: P484263   

Export aliases for PIP4K2A gene to outside databases

Previous GC identifers: GC10M022866 GC10M022484


(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 PIP4K2A Gene:
Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal
transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation,
differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of
catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol
ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology
to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the
phosphatidylinositol-5-phosphate 4-kinase family. (provided by RefSeq, Jul 2008)

GeneCards Summary for PIP4K2A Gene:
PIP4K2A (phosphatidylinositol-5-phosphate 4-kinase, type II, alpha) is a protein-coding gene. Diseases associated with PIP4K2A include precursor b-cell acute lymphoblastic leukemia, and bipolar disorder. GO annotations related to this gene include 1-phosphatidylinositol-4-phosphate 5-kinase activity and 1-phosphatidylinositol-5-phosphate 4-kinase activity. An important paralog of this gene is PIP5K1B.

UniProtKB/Swiss-Prot: PI42A_HUMAN, P48426
Function: Catalyzes the phosphorylation of phosphatidylinositol 5-phosphate (PtdIns5P) on the fourth hydroxyl of
the myo-inositol ring, to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). May exert its function by
regulating the levels of PtdIns5P, which functions in the cytosol by increasing AKT activity and in the nucleus
signals through ING2. May regulate the pool of cytosolic PtdIns5P in response to the activation of tyrosine
phosphorylation. May negatively regulate insulin-stimulated glucose uptake by lowering the levels of PtdIns5P.
May be involved in thrombopoiesis, and the terminal maturation of megakaryocytes and regulation of their size

Gene Wiki entry for PIP4K2A Gene


(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:
NC_000010.11  NT_008705.17  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PIP4K2A gene promoter:
         COUP-TF1   oct-B3   oct-B2   COUP   HNF-4alpha2   HNF-4alpha1   PPAR-gamma1   POU2F1   COUP-TF   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPIP4K2A promoter sequence
   Search Chromatin IP Primers for PIP4K2A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PIP4K2A


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

Entrez Gene cytogenetic band: 10p12.2   Ensembl cytogenetic band:  10p12.2   HGNC cytogenetic band: 10p12.2

PIP4K2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PIP4K2A gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M022823:  view genomic region     (about GC identifiers)

Start:
22,823,766 bp from pter      End:
23,003,503 bp from pter
Size:
179,738 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PI42A_HUMAN, P48426 (See protein sequence)
Recommended Name: Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha  
Size: 406 amino acids; 46225 Da
Subunit: Homodimer (By similarity). Interacts with PIP4K2B. Interaction with PIP4K2B may regulate localization to
the nucleus
Caution: This protein was previously thought to be a phosphatidylinositol 4-phosphate 5-kinase
1 PDB 3D structure from and Proteopedia for PIP4K2A:
2YBX (3D)    
Secondary accessions: B0YJ66 D3DRV1 P53807 Q5VUX3

Explore the universe of human proteins at neXtProt for PIP4K2A: NX_P48426

Explore proteomics data for PIP4K2A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PIP4K2A (P48426) (see all 18)
     KDNDFIN  DYSLLVG  KRFLDFI  NHLFNKEN 


    See PIP4K2A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005019.2  
    ENSEMBL proteins: 
     ENSP00000365757   ENSP00000326294   ENSP00000442098   ENSP00000473858  
    Reactome Protein details: P48426

    PIP4K2A Human Recombinant Protein Products:

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    Novus Biologicals PIP4K2A Proteins
    Novus Biologicals PIP4K2A Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

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    PIP4K2A Assay 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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    5 InterPro protein domains:
     IPR027484 PInositol-4-P-5-kinase_N
     IPR002498 PInositol-4-P-5-kinase_core
     IPR027483 PInositol-4-P-5-kinase_C
     IPR016034 PInositol-4P-5-kinase_core_sub
     IPR023610 PInositol-4-P-5-kinase

    Graphical View of Domain Structure for InterPro Entry P48426

    ProtoNet protein and cluster: P48426

    1 Blocks protein domain: IPB002498 Phosphatidylinositol-4-phosphate 5-kinase

    UniProtKB/Swiss-Prot: PI42A_HUMAN, P48426
    Similarity: Contains 1 PIPK domain


    PIP4K2A 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PI42A_HUMAN, P48426
    Function: Catalyzes the phosphorylation of phosphatidylinositol 5-phosphate (PtdIns5P) on the fourth hydroxyl of
    the myo-inositol ring, to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). May exert its function by
    regulating the levels of PtdIns5P, which functions in the cytosol by increasing AKT activity and in the nucleus
    signals through ING2. May regulate the pool of cytosolic PtdIns5P in response to the activation of tyrosine
    phosphorylation. May negatively regulate insulin-stimulated glucose uptake by lowering the levels of PtdIns5P.
    May be involved in thrombopoiesis, and the terminal maturation of megakaryocytes and regulation of their size
    Catalytic activity: ATP + 1-phosphatidyl-1D-myo-inositol 5-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol
    4,5-bisphosphate
    Biophysicochemical properties: Kinetic parameters: KM=50 uM for phosphatidylinositol-5- phosphate; Vmax=466
    pmol/min/ug enzyme;

         Enzyme Numbers (IUBMB): EC 2.7.1.1491 2 EC 2.7.12

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
    GO:0016307phosphatidylinositol phosphate kinase activity ----
    GO:00163081-phosphatidylinositol-4-phosphate 5-kinase activity NAS7639683
    GO:00163091-phosphatidylinositol-5-phosphate 4-kinase activity IEA--
         
    PIP4K2A for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PIP4K2A:
     Decreased focal adhesion (FA)   Synthetic lethal with Ras 

         1 MGI phenotypic allele for Pip4k2a (no phenotypes)

    PIP4K2A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pip4k2atm1Lex for PIP4K2A

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PIP4K2A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PIP4K2A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PIP4K2A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PIP4K2A

    miRNA
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    miRTarBase miRNAs that target PIP4K2A:
    hsa-mir-193b-3p (MIRT041530), hsa-mir-101-3p (MIRT027258), hsa-mir-122-5p (MIRT023329), hsa-mir-425-5p (MIRT016666), hsa-mir-30b-5p (MIRT023462)

    Block miRNA regulation of human, mouse, rat PIP4K2A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PIP4K2A (see all 55):
    hsa-miR-3685 hsa-miR-4317 hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-640 hsa-miR-3664-5p hsa-miR-188-5p
    SwitchGear 3'UTR luciferase reporter plasmidPIP4K2A 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PIP4K2A
    Predesigned siRNA for gene silencing in human, mouse, rat PIP4K2A

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: PIP4K2A (NM_005028)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PIP4K2A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PIP4K2A

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIP4K2A


    (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
    PI42A_HUMAN, P48426: Cell membrane (By similarity). Nucleus. Cytoplasm. Note=May translocate from the cytosol to
    the cell membrane upon activation of tyrosine phosphorylation. May translocate from the inner to the outer
    segments of the rod photoreceptor cells in response to light (By similarity). Localization to the nucleus is
    modulated by the interaction with PIP4K2B
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    plasma membrane2
    cytoskeleton1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005634nucleus IEA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IEA--

    PIP4K2A for ontologies           About GeneDecksing


    (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 PIP4K2A About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Inositol phosphate metabolism (KEGG)
    Inositol phosphate metabolism0.61
    D-myo-inositol (1,4,5)-trisphosphate biosynthesis0.36
    Phosphatidylinositol signaling system0.61
    D-myo-inositol-5-phosphate metabolism0.00
    superpathway of inositol phosphate compounds0.60
    2Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    Regulation of Actin Cytoskeleton0.57
    3PI Metabolism
    PI Metabolism0.65
    Synthesis of PIPs at the plasma membrane0.65
    4Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    5Glycerophospholipid biosynthesis
    Phospholipid metabolism0.64

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PIP4K2A (see all 7)
        Rac1 Pathway
    RhoA Pathway
    Actin-Based Motility by Rho Family GTPases
    Integrin Pathway
    Aldosterone Signaling in Epithelial Cells

    1 Cell Signaling Technology (CST) Pathway for PIP4K2A
        Ca, cAMP and Lipid Signaling

    Selected BioSystems Pathways for PIP4K2A (see all 6)
        G13 Signaling Pathway
    Regulation of Actin Cytoskeleton
    B Cell Receptor Signaling Pathway
    D-myo-inositol-5-phosphate metabolism
    D-myo-inositol (1,4,5)-trisphosphate biosynthesis

    1 Reactome Pathway for PIP4K2A
        Synthesis of PIPs at the plasma membrane


    3 Kegg Pathways  (Kegg details for PIP4K2A):
        Inositol phosphate metabolism
    Phosphatidylinositol signaling system
    Regulation of actin cytoskeleton


    PIP4K2A for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PIP4K2A
    Interactions:

        Search GeneGlobe Interaction Network for PIP4K2A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PIP4K2A (P484262, 3 ENSP000003657574) via UniProtKB, MINT, STRING, and/or I2D (see all 118)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TECP426803, ENSP000003709124I2D: score=2 STRING: ENSP00000370912
    RAC1P630003, ENSP000003484614I2D: score=2 STRING: ENSP00000348461
    BTKQ061873, ENSP000003081764I2D: score=2 STRING: ENSP00000308176
    GIT1Q9Y2X73I2D: score=1 
    INPP5BENSP000003621154STRING: ENSP00000362115
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0016310phosphorylation ----
    GO:0035855megakaryocyte development IEA--
    GO:0044281small molecule metabolic process TAS--

    PIP4K2A for ontologies           About GeneDecksing



    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PIP4K2A (PI42A)

    3 HMDB Compounds for PIP4K2A    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Phosphatidyl-D-myo-inositol1-Phosphatidyl-1D-myo-inositol (see all 6)----
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    2 Novoseek inferred chemical compound relationships for PIP4K2A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphoinositide 72.1 3 16801950 (1), 18222042 (1)
    lipid 10.4 1 11087761 (1)



    PIP4K2A for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PIP4K2A gene: 
    NM_005028.4  

    Unigene Cluster for PIP4K2A:

    Phosphatidylinositol-5-phosphate 4-kinase, type II, alpha
    Hs.57079  [show with all ESTs]
    Unigene Representative Sequence: NM_005028
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376573(uc010qcu.2 uc001irl.4) ENST00000323883 ENST00000474335
    ENST00000545335 ENST00000604912 ENST00000422321 ENST00000432610 ENST00000605011


    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PIP4K2A (see all 55):
    hsa-miR-3685 hsa-miR-4317 hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-640 hsa-miR-3664-5p hsa-miR-188-5p
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat PIP4K2A
      QuantiFast Probe-based Assays in human, mouse, rat PIP4K2A

    Additional mRNA sequence: 

    AK023329.1 AK294817.1 AK294867.1 BC018034.1 S78798.1 U14957.2 

    8 DOTS entries:

    DT.452504  DT.100780695  DT.92039564  DT.99999778  DT.121216779  DT.417804  DT.95270713  DT.121216739 

    Selected AceView cDNA sequences (see all 52):

    BM828998 H93932 AW500300 NM_005028 U14957 BX283131 BQ939723 AI684735 
    BF115318 BP348857 AW242832 BQ898815 BE766698 BU429163 AA059418 BC018034 
    BX496635 AW614795 BV204907 BM051386 BG744111 BG217124 AI699418 N24948 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PIP4K2A    About this scheme

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


    ECgene alternative splicing isoforms for PIP4K2A

    (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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    PIP4K2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCCGGGCTT
    PIP4K2A Expression
    About this image


    PIP4K2A 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
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
     
     Testis (Reproductive System)
             XY Germ Cells Testis Cord
     
     Kidney (Urinary System)
             Metanephros
    PIP4K2A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PIP4K2A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.57079

    UniProtKB/Swiss-Prot: PI42A_HUMAN, P48426
    Tissue specificity: Expressed ubiquitously, with high levels in the brain. Present in most tissues, except notably
    skeletal muscle and small intestine

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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 animals.

    Orthologs for PIP4K2A gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pip4k2a1 , 5 phosphatidylinositol-5-phosphate 4-kinase, type II, more1, 5 89.47(n)1
    98.27(a)1
      2 (12.93 cM)5
    187181  NM_008845.41  NP_032871.31 
     188422555 
    chicken
    (Gallus gallus)
    Aves PIP4K2A1 phosphatidylinositol-5-phosphate 4-kinase, type II, more 84.53(n)
    93.58(a)
      420504  NM_001030971.1  NP_001026142.1 
    lizard
    (Anolis carolinensis)
    Reptilia PIP4K2A6
    phosphatidylinositol-5-phosphate 4-kinase, type II...
    93(a)
    1 ↔ 1
    6(16137833-16206911)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pip4k2b1 phosphatidylinositol-5-phosphate 4-kinase, type II, more 80.94(n)
    93.2(a)
      100170468  NM_001130251.1  NP_001123723.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pip4k2aa1 phosphatidylinositol-5-phosphate 4-kinase, type II, more 76.84(n)
    87.59(a)
      560360  NM_001128702.1  NP_001122174.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG174716
    --
    56(a)
    1 → many
    4(1213042-1217466)
    worm
    (Caenorhabditis elegans)
    Secernentea ppk-26
    Protein PPK-2 (ppk-2) mRNA, complete cds
    52(a)
    1 → many
    III(2102295-2107470) WBGene00004088


    ENSEMBL Gene Tree for PIP4K2A (if available)
    TreeFam Gene Tree for PIP4K2A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PIP4K2A gene
    PIP5K1B2  PIP4K2B2  PIP4K2C2  PIP5K1C2  PIP5KL12  PIP5K1A2  
    6 SIMAP similar genes for PIP4K2A using alignment to 7 protein entries:     PI42A_HUMAN (see all proteins):
    PIP4K2B    PIP4K2C    PIP5K1A    PIP5K1B    PIPSL    PIP5K1C

    PIP4K2A for paralogs           About GeneDecksing



    (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 PIP4K2A (see all 4263)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1881586551,2
    --22823292(+) ACAATA/TGGGTT 1 -- ds50010--------
    rs110130421,2
    C--22823301(+) TTCGCA/GCTCCT 1 -- ds50010--------
    rs1494957331,2
    --22823353(+) ATAGGC/TGGTAA 1 -- ds50010--------
    rs1178369711,2
    F--22823408(+) CAGGCC/TATGGA 1 -- ds50011Minor allele frequency- T:0.01EA 120
    rs1928939621,2
    --22823434(+) GGCCCA/GGGGTT 1 -- ds50010--------
    rs779893141,2
    F--22823438(+) CGGGGT/CTTGGG 1 -- ds50011Minor allele frequency- C:0.05NA 120
    rs615933251,2
    F--22823538(+) CCAAGT/GGGAAT 1 -- ds50011Minor allele frequency- G:0.12WA 118
    rs1845682691,2
    --22823540(+) AAGTGG/TAATGC 1 -- ds50010--------
    rs1486730831,2
    --22823697(+) TCTTGC/TGGCAA 1 -- ds50010--------
    rs47488091,2
    C,A--22823797(+) ACTTTT/CATTTC 1 -- ut3113Minor allele frequency- C:0.02NA WA CSA EA 375

    HapMap Linkage Disequilibrium report for PIP4K2A (22823766 - 23003503 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for PIP4K2A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2659118CNV Deletion23128226
    esv2661976CNV Deletion23128226
    esv2733984CNV Deletion23290073
    esv272641CNV Insertion20981092
    nsv831809CNV Gain17160897

    Human Gene Mutation Database (HGMD): PIP4K2A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PIP4K2A
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603140    OMIM disorders: --

    10 diseases for PIP4K2A:    
    About MalaCards
    precursor b-cell acute lymphoblastic leukemia    bipolar disorder    schizophrenia    obesity
    alzheimer's disease    prostate cancer    breast cancer    cerebritis
    neuronitis    prostatitis

    1 disease from the University of Copenhagen DISEASES database for PIP4K2A:
    Schizophrenia

    PIP4K2A for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for PIP4K2A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bipolar disorder 64.9 5 16094259 (2), 16823801 (2)
    schizophrenia 59.3 17 16823801 (4), 17555944 (3), 16094259 (2), 16801950 (1) (see all 6)

    Genetic Association Database (GAD): PIP4K2A
    Human Genome Epidemiology (HuGE) Navigator: PIP4K2A (13 documents)

    Export disorders for PIP4K2A 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 PIP4K2A gene, integrated from 10 sources (see all 53):
    (articles sorted by number of sources associating them with PIP4K2A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A new pathway for synthesis of phosphatidylinositol-4,5- bisphosphate. (PubMed id 9367159)1, 2, 3 Rameh L.E.... Cantley L.C. (Nature 1997)
    2. The sequence of phosphatidylinositol-4-phosphate 5-kinase defines a novel family of lipid kinases. (PubMed id 7852364)1, 2, 3 Boronenkov I.V. and Anderson R.A. (J. Biol. Chem. 1995)
    3. Association analysis of the PIP4K2A gene on chromosome 10p12 and schizophrenia in the Irish study of high density schizophrenia families (ISHDSF) and the Irish case-control study of schizophrenia (ICCSS). (PubMed id 19475563)1, 4, 9 Thiselton D.L....Riley B.P. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    4. Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up. (PubMed id 21041608)1, 4 van Winkel R. (Arch. Gen. Psychiatry 2011)
    5. Association study of NRG1, DTNBP1, RGS4, G72/G30, and PIP5K2A with schizophrenia and symptom severity in a Hungarian sample. (PubMed id 19937977)1, 4 RActhelyi J.M....Bitter I. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    6. PIP4Kbeta interacts with and modulates nuclear localization of the high-activity PtdIns5P-4-kinase isoform PIP4Kalpha. (PubMed id 20583997)1, 2 Bultsma Y.... Divecha N. (Biochem. J. 2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population. (PubMed id 19328558)1, 4 Yosifova A....Nakamura Y. (J Affect Disord 2009)
    9. Regulation of extranuclear PtdIns5P production by phosphatidylinositol phosphate 4-kinase 2alpha. (PubMed id 18364242)1, 2 Wilcox A. and Hinchliffe K.A. (FEBS Lett. 2008)
    10. Association of PIP5K2A with schizophrenia: a study in an indonesian family sample. (PubMed id 18314871)1, 4 Saggers-Gray L....Wildenauer D.B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 5305 HGNC: 8997 AceView: PIP5K2A Ensembl:ENSG00000150867 euGenes: HUgn5305
    ECgene: PIP4K2A Kegg: 5305 H-InvDB: PIP4K2A

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for PIP4K2A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for PIP4K2A gene:
    Search GeneIP for patents involving PIP4K2A

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



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