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PIP4K2B Gene

protein-coding   GIFtS: 61
GCID: GC17M036921

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

(Previous names: phosphatidylinositol-4-phosphate 5-kinase, type II, beta)
(Previous symbol: PIP5K2B)
  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)
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Aliases
Phosphatidylinositol-5-Phosphate 4-Kinase, Type II, Beta1 2     1-Phosphatidylinositol-4-Phosphate Kinase2
PIP5K2B1 2 3     1-Phosphatidylinositol-5-Phosphate 4-Kinase 2-Beta2
Phosphatidylinositol-4-Phosphate 5-Kinase, Type II, Beta1 2     PI5P4KB2
Diphosphoinositide Kinase 2-Beta2 3     PIP5KIIB2
Phosphatidylinositol 5-Phosphate 4-Kinase Type II Beta2 3     PIP5KIIbeta2
PtdIns(5)P-4-Kinase Isoform 2-Beta2 3     PTDINS(4)P-5-kinase2
1-Phosphatidylinositol 5-Phosphate 4-Kinase 2-Beta2 3     Phosphatidylinositol 5-Phosphate 4-Kinase Type-2 Beta2
PIP4KII-beta2 3     Phosphatidylinositol-5-Phosphate 4-Kinase Type-2 Beta2
PI(5)P 4-Kinase Type II Beta2 3     EC 2.7.18
EC 2.7.1.1493 8     

External Ids:    HGNC: 89981   Entrez Gene: 83962   Ensembl: ENSG000001417207   OMIM: 6032615   UniProtKB: P783563   

Export aliases for PIP4K2B gene to outside databases

Previous GC identifers: GC17M034175 GC17M032718


(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 PIP4K2B Gene:
The protein encoded by this gene catalyzes the phosphorylation of phosphatidylinositol-5-phosphate on the fourth
hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. This gene is a member of the
phosphatidylinositol-5-phosphate 4-kinase family. The encoded protein sequence does not show similarity to other
kinases, but the protein does exhibit kinase activity. Additionally, the encoded protein interacts with p55 TNF
receptor. (provided by RefSeq, Jul 2008)

GeneCards Summary for PIP4K2B Gene:
PIP4K2B (phosphatidylinositol-5-phosphate 4-kinase, type II, beta) is a protein-coding gene. Diseases associated with PIP4K2B include labyrinthitis, and ataxia. GO annotations related to this gene include 1-phosphatidylinositol-5-phosphate 4-kinase activity and receptor signaling protein activity. An important paralog of this gene is PIP4K2A.

UniProtKB/Swiss-Prot: PI42B_HUMAN, P78356
Function: Participates in the biosynthesis of phosphatidylinositol 4,5-bisphosphate

Gene Wiki entry for PIP4K2B 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_000017.11  NT_010783.16  NT_187614.1  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PIP4K2B gene promoter:
         Pax-5   AML1a   CUTL1   Nkx2-5   NF-E2 p45   Egr-4   CP2   NF-E2   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPIP4K2B promoter sequence
   Search Chromatin IP Primers for PIP4K2B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PIP4K2B


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

Entrez Gene cytogenetic band: 17q12   Ensembl cytogenetic band:  17q12   HGNC cytogenetic band: 17q21.2

PIP4K2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PIP4K2B gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M036921:  view genomic region     (about GC identifiers)

Start:
36,921,942 bp from pter      End:
36,956,379 bp from pter
Size:
34,438 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: PI42B_HUMAN, P78356 (See protein sequence)
Recommended Name: Phosphatidylinositol 5-phosphate 4-kinase type-2 beta  
Size: 416 amino acids; 47378 Da
Subunit: Homodimer. Binds TNFRSF1A. Interacts with PIP4K2A. Interaction with PIP4K2A suppresses ubiquitination by
the SPOP/ CUL3 complex
1 PDB 3D structure from and Proteopedia for PIP4K2B:
1BO1 (3D)    
Secondary accessions: Q5U0E8 Q8TBP2
Alternative splicing: 2 isoforms:  P78356-1   P78356-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PIP4K2B: NX_P78356

Explore proteomics data for PIP4K2B at MOPED

Post-translational modifications: 

  • Ubiquitinated by the SPOP/CUL3 complex. Ubiquitination is stimulated by PtdIns5P levels1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PIP4K2B (P78356) (see all 17)
     IMDYSLL  DYSLLVG  NHLFNKEN  KTKKKHFV 


    See PIP4K2B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003550.1  
    ENSEMBL proteins: 
     ENSP00000269554   ENSP00000463831  
    Reactome Protein details: P78356

    PIP4K2B Human Recombinant Protein 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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    IUPHAR Guide to PHARMACOLOGY protein family classification: phosphatidylinositol-5-phosphate 4-kinase, type II, beta
    1-phosphatidylinositol-5-phosphate 4-kinase family

    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 P78356

    ProtoNet protein and cluster: P78356

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

    UniProtKB/Swiss-Prot: PI42B_HUMAN, P78356
    Similarity: Contains 1 PIPK domain


    PIP4K2B 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: PI42B_HUMAN, P78356
    Function: Participates in the biosynthesis of phosphatidylinositol 4,5-bisphosphate
    Catalytic activity: ATP + 1-phosphatidyl-1D-myo-inositol 5-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol
    4,5-bisphosphate
    Biophysicochemical properties: Kinetic parameters: KM=30 uM for phosphatidylinositol-5- phosphate; Vmax=0.2
    pmol/min/ug enzyme;

         Enzyme Numbers (IUBMB): EC 2.7.1.1491 2 EC 2.7.12

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005057receptor signaling protein activity TAS9038203
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
    GO:0016307phosphatidylinositol phosphate kinase activity ----
    GO:00163081-phosphatidylinositol-4-phosphate 5-kinase activity IDA9038203
         
    PIP4K2B for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for PIP4K2B:
     Increased cell death in breast  PARP inhibitor sensitization  Synthetic lethal with c-Myc af 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pip4k2b):
     adipose tissue  growth/size/body  homeostasis/metabolism  limbs/digits/tail  mortality/aging 
     skeleton 

    PIP4K2B for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PIP4K2B
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PIP4K2B
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PIP4K2B

    miRNA
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    miRTarBase miRNAs that target PIP4K2B:
    hsa-mir-16-5p (MIRT051101), hsa-mir-320a (MIRT044592), hsa-mir-186-5p (MIRT021118), hsa-mir-99b-5p (MIRT044205), hsa-mir-192-5p (MIRT026451), hsa-mir-215-5p (MIRT024431)

    Block miRNA regulation of human, mouse, rat PIP4K2B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PIP4K2B (see all 85):
    hsa-miR-4254 hsa-miR-30d hsa-miR-371-5p hsa-miR-3921 hsa-miR-1304 hsa-miR-30a hsa-miR-383 hsa-miR-149
    SwitchGear 3'UTR luciferase reporter plasmidPIP4K2B 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PIP4K2B
    Predesigned siRNA for gene silencing in human, mouse, rat PIP4K2B

    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIP4K2B


    (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
    PI42B_HUMAN, P78356: Endoplasmic reticulum membrane; Peripheral membrane protein (By similarity). Cell membrane;
    Peripheral membrane protein (By similarity). Nucleus. Cytoplasm. Note=Associated with the plasma membrane and the
    endoplasmic reticulum (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    nucleus5
    plasma membrane5
    cytosol4
    mitochondrion3
    peroxisome2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IEA--

    PIP4K2B 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 PIP4K2B About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Inositol phosphate metabolism (KEGG)
    Inositol phosphate metabolism0.61
    superpathway of inositol phosphate compounds0.60
    Phosphatidylinositol signaling system0.61
    D-myo-inositol (1,4,5)-trisphosphate biosynthesis0.36
    2PI Metabolism
    PI Metabolism0.65
    3-phosphoinositide biosynthesis0.47
    Synthesis of PIPs at the plasma membrane0.65
    3Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    Regulation of Actin Cytoskeleton0.57
    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 PIP4K2B (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 PIP4K2B
        Ca, cAMP and Lipid Signaling

    5 BioSystems Pathways for PIP4K2B
        Regulation of Actin Cytoskeleton
    B Cell Receptor Signaling Pathway
    3-phosphoinositide biosynthesis
    D-myo-inositol (1,4,5)-trisphosphate biosynthesis
    superpathway of inositol phosphate compounds

    1 Reactome Pathway for PIP4K2B
        Synthesis of PIPs at the plasma membrane


    3 Kegg Pathways  (Kegg details for PIP4K2B):
        Inositol phosphate metabolism
    Phosphatidylinositol signaling system
    Regulation of actin cytoskeleton


    PIP4K2B for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PIP4K2B
    Interactions:

        Search GeneGlobe Interaction Network for PIP4K2B

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

    Selected Interacting proteins for PIP4K2B (P783562, 3 ENSP000002695544) via UniProtKB, MINT, STRING, and/or I2D (see all 112)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBQLN4Q9NRR52, 3, ENSP000003572924MINT-2864997 MINT-2865016 I2D: score=3 STRING: ENSP00000357292
    BTKQ061873, ENSP000003081764I2D: score=1 STRING: ENSP00000308176
    TNFRSF1AP194383, ENSP000001627494I2D: score=2 STRING: ENSP00000162749
    RNPS1Q152873, ENSP000003158594I2D: score=1 STRING: ENSP00000315859
    RAC1P630003I2D: score=2 
    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:0007166cell surface receptor signaling pathway TAS9038203
    GO:0035556intracellular signal transduction TAS9038203
    GO:0044281small molecule metabolic process TAS--

    PIP4K2B 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 PIP4K2B (PI42B)

    3 HMDB Compounds for PIP4K2B    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--



    (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 PIP4K2B gene (2 alternative transcripts): 
    NM_003559.4  NM_138687.1  

    Unigene Cluster for PIP4K2B:

    Phosphatidylinositol-5-phosphate 4-kinase, type II, beta
    Hs.260603  [show with all ESTs]
    Unigene Representative Sequence: NM_003559
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000269554(uc002hqs.3 uc021twj.1) ENST00000583278 ENST00000311500
    ENST00000581097
    miRNA
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    hsa-miR-4254 hsa-miR-30d hsa-miR-371-5p hsa-miR-3921 hsa-miR-1304 hsa-miR-30a hsa-miR-383 hsa-miR-149
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PIP4K2B
      QuantiTect SYBR Green Assays in human, mouse, rat PIP4K2B
      QuantiFast Probe-based Assays in human, mouse, rat PIP4K2B

    Additional mRNA sequence: 

    AK307169.1 BC027459.1 BC073896.1 BC094858.1 BT019614.1 U85245.1 

    13 DOTS entries:

    DT.92439356  DT.95235928  DT.92439370  DT.92439371  DT.97860523  DT.95274610  DT.219375  DT.120892109 
    DT.120892117  DT.95076456  DT.95222711  DT.97860525  DT.95303157 

    Selected AceView cDNA sequences (see all 426):

    AW575664 BM834517 BM754324 AA864649 CR590530 AA084038 Z42364 BM770797 
    CR624711 NM_003559 BF882336 AA300326 AU280563 BM739249 BE938197 BM770861 
    BC027459 AW151205 BM704230 CB055114 BG750508 BM771362 Z42408 AL046507 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for PIP4K2B    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b
    SP1:                                                                              
    SP2:                                                                              


    ECgene alternative splicing isoforms for PIP4K2B

    (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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    PIP4K2B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTACGATGAA
    PIP4K2B Expression
    About this image


    PIP4K2B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)
             Telencephalon
    PIP4K2B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PIP4K2B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.260603

    UniProtKB/Swiss-Prot: PI42B_HUMAN, P78356
    Tissue specificity: Highly expressed in brain, heart, pancreas, skeletal muscle and kidney. Detected at lower
    levels in placenta, lung and liver

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    QuantiFast Probe-based Assays in human, mouse, rat PIP4K2B
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIP4K2B

    (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 PIP4K2B gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pip4k2b1 , 5 phosphatidylinositol-5-phosphate 4-kinase, type II, more1, 5 91.75(n)1
    99.04(a)1
      11 (61.07 cM)5
    1080831  NM_054051.11  NP_473392.11 
     977151575 
    chicken
    (Gallus gallus)
    Aves PIP4K2B1 phosphatidylinositol-5-phosphate 4-kinase, type II, more 85.4(n)
    95.87(a)
      419999  XM_418120.3  XP_418120.3 
    lizard
    (Anolis carolinensis)
    Reptilia PIP4K2B6
    phosphatidylinositol-5-phosphate 4-kinase, type II...
    93(a)
    1 ↔ 1
    6(63106838-63142079)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.18242 Xenopus laevis phosphatidylinositol-4-phosphate 5-kinase more 81.38(n)    AF495661.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pip4k2ab1 phosphatidylinositol-5-phosphate 4-kinase, type II, more 73.09(n)
    73.66(a)
      555920  XM_005163367.1  XP_005163424.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG174711 CG17471 58.24(n)
    59.57(a)
      3885565  NM_001038717.2  NP_001033806.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ppk-21 ppk-2 55.29(n)
    54.5(a)
      175344  NM_065099.4  NP_497500.1 


    ENSEMBL Gene Tree for PIP4K2B (if available)
    TreeFam Gene Tree for PIP4K2B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for PIP4K2B gene
    PIP4K2A2  PIP5K1B2  PIP4K2C2  PIP5K1C2  PIP5KL12  PIP5K1A2  
    6 SIMAP similar genes for PIP4K2B using alignment to 2 protein entries:     PI42B_HUMAN (see all proteins):
    PIP4K2A    PIP4K2C    PIP5K1A    PIP5K1C    PIPSL    PIP5K1B

    PIP4K2B 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)
    About This Section

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    Selected SNPs for PIP4K2B (see all 711)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2282841,2
    C,F,A--36921648(+) agagaC/Tggggt 1 -- ds50019Minor allele frequency- T:0.39EA NA WA 416
    rs7589761,2
    C,F--36921651(+) GACGGG/CGTCTC 1 -- ds50017Minor allele frequency- C:0.33EA NA CSA WA 386
    rs1158474271,2
    C,F--36921854(+) TAGCCG/AAAGCT 1 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1995040981,2
    C--36921899(+) AAAAA-/AGGTTC 1 -- ds50010--------
    rs1449638171,2
    C--36921960(+) TTTTGA/GGTTTT 1 -- ut310--------
    rs1490559811,2
    C--36922182(+) TTCACA/GTTTTT 1 -- ut310--------
    rs1420865441,2
    C--36922188(+) TTTTTG/TAATTT 1 -- ut310--------
    rs10435151,2
    C,F,A,H--36922196(-) GATCAT/CTGAAA 1 -- ut31113Minor allele frequency- C:0.34NS MN EA NA PA EU CA WA CSA 7076
    rs748699461,2
    C,F--36922244(+) CTCCCC/GCAAGG 1 -- ut311Minor allele frequency- G:0.03WA 118
    rs1162217171,2
    C,F--36922424(+) GTCACT/AGACCC 1 -- ut311Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for PIP4K2B (36921942 - 36956379 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PIP4K2B:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678000CNV Deletion23128226
    nsv833439CNV Loss17160897
    nsv833438CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PIP4K2B
    DNA2.0 Custom Variant and Variant Library Synthesis for PIP4K2B

    (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

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    OMIM gene information: 603261    OMIM disorders: --

    5 diseases for PIP4K2B:    
    About MalaCards
    labyrinthitis    ataxia    alzheimer's disease    cerebritis
    breast cancer


    PIP4K2B for disorders           About GeneDecksing

    Genetic Association Database (GAD): PIP4K2B
    Human Genome Epidemiology (HuGE) Navigator: PIP4K2B (1 document)

    Export disorders for PIP4K2B 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 PIP4K2B gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with PIP4K2B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel interaction between the juxtamembrane region of the p55 tumor necrosis factor receptor and phosphatidylinositol-4-phosphate 5- kinase. (PubMed id 9038203)1, 2, 3, 9 Castellino A.M....Chao M.V. (J. Biol. Chem. 1997)
    2. Overexpression of the amplified Pip4k2beta gene from 17q11-12 in breast cancer cells confers proliferation advantage. (PubMed id 14691457)1, 3 Luoh S.W....Tripathi R. (Oncogene 2004)
    3. 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)
    4. Structure of type IIbeta phosphatidylinositol phosphate kinase: a protein kinase fold flattened for interfacial phosphorylation. (PubMed id 9753329)1, 2 Rao V.D.... Hurley J.H. (Cell 1998)
    5. A new pathway for synthesis of phosphatidylinositol-4,5- bisphosphate. (PubMed id 9367159)1, 3 Rameh L.E.... Cantley L.C. (Nature 1997)
    6. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    7. Low PIP4K2B expression in human breast tumors correlates with reduced patient survival: A role for PIP4K2B in the regulation of E-cadherin expression. (PubMed id 24127122)1 Keune W.J....Divecha N. (Cancer Res. 2013)
    8. Depletion of a putatively druggable class of phosphatidylinositol kinases inhibits growth of p53-null tumors. (PubMed id 24209622)1 Emerling B.M....Cantley L.C. (Cell 2013)
    9. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (J. Proteome Res. 2012)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (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: 8396 HGNC: 8998 AceView: PIP5K2B Ensembl:ENSG00000141720 euGenes: HUgn8396
    ECgene: PIP4K2B Kegg: 8396 H-InvDB: PIP4K2B

    (According to HUGE)
    About This Section

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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 PIP4K2B 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 PIP4K2B gene:
    Search GeneIP for patents involving PIP4K2B

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



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