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

INPP5J Gene

protein-coding   GIFtS: 56
GCID: GC22P031518

inositol polyphosphate-5-phosphatase J

(Previous names: phosphatidylinositol (4,5) bisphosphate 5-phosphatase,...)
(Previous symbol: PIB5PA)
 Explore 7 diseases affiliated with
INPP5J via our new
 Human Malady Compendium 
Biological research products
for INPP5J
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Inositol Polyphosphate-5-Phosphatase J1 2     Inositol Polyphosphate 5-Phosphatase J2 3
PIB5PA1 2 3 5     EC 3.1.3.563 8
PIPP2 3 5     Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase A2
INPP51 2     EC 3.1.38
Phosphatidylinositol (4,5) Bisphosphate 5-Phosphatase, A1 2     

External Ids:    HGNC: 89561   Entrez Gene: 271242   Ensembl: ENSG000001851337   OMIM: 6064815   UniProtKB: Q157353   

Export aliases for INPP5J gene to outside databases

Previous GC identifers: GC22P029848 GC22P014480


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

UniProtKB/Swiss-Prot: PI5PA_HUMAN, Q15735
Function: Inositol 5-phosphatase, which converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate. Also
converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate and inositol
1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate in vitro. May be involved in modulation of the function of
inositol and phosphatidylinositol polyphosphate-binding proteins that are present at membranes ruffles (By similarity)

Gene Wiki entry for INPP5J (PIB5PA)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the INPP5J gene promoter:
         Pax-5   Nkx2-5   Tal-1beta   E47   GATA-1   c-Myb   FOXO1a   FOXO1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidINPP5J promoter sequence
   Search SABiosciences Chromatin IP Primers for INPP5J

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat INPP5J


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

Entrez Gene cytogenetic band: 22q12.2   Ensembl cytogenetic band:  22q12.2   HGNC cytogenetic band: 22q12.2

INPP5J Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
INPP5J gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P031518:  view genomic region     (about GC identifiers)

Start:
31,518,717 bp from pter      End:
31,530,683 bp from pter
Size:
11,967 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PI5PA_HUMAN, Q15735 (See protein sequence)
Recommended Name: Phosphatidylinositol 4,5-bisphosphate 5-phosphatase A  
Size: 1006 amino acids; 107197 Da
Subcellular location: Cytoplasm (By similarity). Note=Predominantly localized to membrane ruffles (By similarity)
Sequence caution: Sequence=AAD15618.1; Type=Erroneous gene model prediction;
Secondary accessions: B3KS54 Q32M61 Q6ZTH6 Q8N902 Q9UDT9
Alternative splicing: 3 isoforms:  Q15735-1   Q15735-2   Q15735-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for INPP5J: NX_Q15735

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15735

  • 4/5 DME Specific Peptides for INPP5J (Q15735) (see all 5)
     DYVAYVW  WDWIGLY  AIGLQEV  LWEKDQL 

    INPP5J Protein expression data from MOPED and PaxDb:    About this image 
    INPP5J Protein Expression
    REFSEQ proteins: NP_001002837.1  
    ENSEMBL proteins: 
     ENSP00000401124   ENSP00000333262   ENSP00000406570   ENSP00000383150   ENSP00000384596  
     ENSP00000384534   ENSP00000385264   ENSP00000385343   ENSP00000384540   ENSP00000392924  
    Reactome Protein details: Q15735
    Human Recombinant Protein Products for INPP5J: 
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    Uscn Proteins for INPP5J

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle IDA12536145
    GO:0005737cytoplasm IDA12536145
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IEA--
    GO:0030426growth cone IEA--

    INPP5J for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    INPP5J for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR005135 Endo/exonuclease/phosphatase
     IPR000300 IPPc

    Graphical View of Domain Structure for InterPro Entry Q15735

    ProtoNet protein and cluster: Q15735

    1 Blocks protein family: IPB000300 Inositol polyphosphate related phosphatase family

    UniProtKB/Swiss-Prot: PI5PA_HUMAN, Q15735
    Domain: The 5 Arg-Ser-Xaa-Ser-Xaa-Xaa (RSXSXX) motifs may constitute binding sites for the 14-3-3 protein
    Similarity: Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PI5PA_HUMAN, Q15735
    Function: Inositol 5-phosphatase, which converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate. Also
    converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate and inositol
    1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate in vitro. May be involved in modulation of the function of
    inositol and phosphatidylinositol polyphosphate-binding proteins that are present at membranes ruffles (By similarity)
    Catalytic activity: D-myo-inositol 1,4,5-trisphosphate + H(2)O = myo-inositol 1,4-bisphosphate + phosphate
    Catalytic activity: 1D-myo-inositol 1,3,4,5-tetrakisphosphate + H(2)O = 1D-myo-inositol 1,3,4-trisphosphate + phosphate

         Enzyme Numbers (IUBMB): EC 3.1.3.561 2 EC 3.1.32

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004445inositol-polyphosphate 5-phosphatase activity IEA--
    GO:0017124SH3 domain binding IEA--
    GO:0034485phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity IEA--
    GO:0052658inositol-1,4,5-trisphosphate 5-phosphatase activity IEA--
    GO:0052659inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity IEA--
         
    INPP5J for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for INPP5J:
     Decreased focal adhesion (FA)   Increased apoptosis 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for INPP5J 

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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate INPP5J:
    hsa-miR-27a hsa-miR-219-5p hsa-miR-27b
    SwitchGear 3'UTR luciferase reporter plasmidINPP5J 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1D-myo-inositol (1,3,4)-trisphosphate biosynthesis
    D-myo-inositol (1,3,4)-trisphosphate biosynthesis1.00
    D-myo-inositol (1,4,5)-trisphosphate degradation0.40
    1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)0.76
    3-phosphoinositide degradation0.33
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism0.75
    Synthesis of IP2, IP, and Ins in the cytosol0.24
    2Metabolism
    Metabolism1.00
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.38
    3Inositol phosphate metabolism
    Inositol phosphate metabolism1.00
    Phosphatidylinositol signaling system0.59
    superpathway of inositol phosphate compounds0.59
    4PI Metabolism
    PI Metabolism1.00
    Synthesis of PIPs at the plasma membrane0.66
    5Synthesis of IP3 and IP4 in the cytosol
    Synthesis of IP3 and IP4 in the cytosol1.00
    Inositol phosphate metabolism0.57

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/6 BioSystems Pathways for INPP5J (see all 6
        D-myo-inositol (1,3,4)-trisphosphate biosynthesis
    D-myo-inositol (1,4,5)-trisphosphate degradation
    1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)
    superpathway of inositol phosphate compounds
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism

    5/8        Reactome Pathways for INPP5J (see all 8)
        Synthesis of IP2, IP, and Ins in the cytosol
    Metabolism
    Phospholipid metabolism
    Inositol phosphate metabolism
    Synthesis of IP3 and IP4 in the cytosol


    3         Kegg Pathways  (Kegg details for INPP5J):
        Inositol phosphate metabolism
    Metabolic pathways
    Phosphatidylinositol signaling system


    INPP5J for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for INPP5J

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

    5/30 Interacting proteins for INPP5J (ENSP000003845344) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    INPP1ENSP000003254234STRING: ENSP00000325423
    INPP4AENSP000000743044STRING: ENSP00000074304
    ITPK1ENSP000002676154STRING: ENSP00000267615
    ITPKAENSP000002603864STRING: ENSP00000260386
    PTENENSP000003610214STRING: ENSP00000361021
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0010977negative regulation of neuron projection development IEA--
    GO:0031115negative regulation of microtubule polymerization IEA--
    GO:0033137negative regulation of peptidyl-serine phosphorylation IEA--

    INPP5J for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    INPP5J for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for INPP5J

    6 HMDB Compounds for INPP5J    About this table
    CompoundSynonyms CAS #PubMed Ids
    1D-Myo-inositol 1,4-bisphosphate1D-Myo-inositol 1,4-bisphosphate (see all 5)47055-78-7--
    Inositol 1,3,4,5-tetraphosphate1,3,4,5-tetrakis(dihydrogen phosphate) myo-Inositol (see all 16)102850-29-3--
    Inositol 1,3,4-trisphosphate1,3,4-Itp (see all 8)98102-63-7--
    Inositol 1,4,5-trisphosphate1D-myo-Inositol 1,4,5-trisphosphate (see all 4)88269-39-0--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 DrugBank Compound for INPP5J    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Heme-- --target--10592235

    10 Novoseek chemical compound relationships for INPP5J gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inositol 1,3,4,5-tetrakisphosphate 90 8 9430698 (1), 9525932 (1), 7556092 (1), 8529643 (1) (see all 8)
    phosphatidylinositol-3,4,5-trisphosphate 86.4 3 9430698 (1), 7556092 (1), 12556481 (1)
    inositol 81.8 20 1321346 (2), 11691828 (1), 15093605 (1), 9038219 (1) (see all 14)
    phosphoinositide 73.1 12 12018403 (2), 7556092 (1), 8968499 (1), 19272022 (1) (see all 9)
    inositol 1,4,5 trisphosphate 69.8 7 9430698 (1), 9525932 (1), 7556092 (1), 8529643 (1) (see all 7)
    phosphatidylinositol 69.2 6 9525932 (1), 19736566 (1), 12676785 (1), 8256286 (1) (see all 6)
    phosphatidylinositol 3-phosphate 58.9 2 16880518 (2)
    tyrosine 32 5 8805618 (1), 9838104 (1), 9009077 (1), 9232445 (1)
    calcium 7.34 4 8529643 (1), 9973602 (1), 1718960 (1)
    lipid 6.41 1 12018403 (1)

    Search CenterWatch for drugs/clinical trials and news about INPP5J / PI5PA 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
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    About This Section

    REFSEQ mRNAs for INPP5J gene (2 alternative transcripts): 
    NM_014422.2  NM_001002837.1  

    Unigene Cluster for INPP5J:

    Inositol polyphosphate-5-phosphatase J
    Hs.517549  [show with all ESTs]
    Unigene Representative Sequence: AK308921
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000463528 ENST00000412985 ENST00000331075(uc003ajt.4 uc003ajs.4 uc011alk.2 uc003aju.4 uc010gwg.3)
    ENST00000461241(uc003ajw.3) ENST00000420017 ENST00000400294 ENST00000405300(uc003ajv.4)
    ENST00000404390 ENST00000402238 ENST00000404453 ENST00000401755 ENST00000412277(uc010gwf.3)


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    Additional cDNA sequence: 

    AK126610.1 AK308921.1 AK309548.1 U45975.1 

    11 DOTS entries:

    DT.311553  DT.100024052  DT.100777877  DT.100753623  DT.100777879  DT.100806091  DT.101982761  DT.100687939 
    DT.100832177  DT.100778863  DT.120648431 

    24/106 AceView cDNA sequences (see all 106):

    CR617561 CR611668 CA868401 CR617784 BP352955 BU507439 BM711841 AI540418 
    AK126610 CR610046 CR615040 CR625511 CR624482 BF436472 CB107367 CR604969 
    CR615918 BU584792 BM994866 BU684668 CR599279 BX102670 BC041652 NM_001002837 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for INPP5J (see all 10)    About this scheme

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

    ExUns: 17b
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for INPP5J

    (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

    INPP5J expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGACTTCAT
    INPP5J Expression
    About this image

    INPP5J expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryAntral FollicleCumulus CellsOvary
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)

    See INPP5J Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for INPP5J

    SOURCE GeneReport for Unigene cluster: Hs.517549
        SABiosciences Custom PCR Arrays for INPP5J
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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 INPP5J gene from 7/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves INPP5J1 inositol polyphosphate-5-phosphatase J 73.13(n)
    74.46(a)
      416996  XM_415287.3  XP_415287.3 
    lizard
    (Anolis carolinensis)
    Reptilia INPP5J6
    --
    70(a)
    1 ↔ 1
    GL343417.1(389773-395842)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5695681 phosphatidylinositol 4,5-bisphosphate 5-phosphatase more 60.15(n)
    58.67(a)
      569568  XM_692965.4  XP_698057.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG97841 CG9784 51.75(n)
    37.85(a)
      32629  NM_132907.1  NP_573135.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T25B9.106
    --
    17(a)
    1 → many
    IV(10770219-10773360)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons 5PTASE111 Type I inositol-1,4,5-trisphosphate 5-phosphatase 11 44.44(n)
    36.7(a)
      841160  NM_103644.2  NP_175182.2 
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 3)
    endonuclease/exonuclease/phosphatase family domain...
    endonuclease/exonuclease/phosphatase family domain...
    (see all 3)
    9(a)
    8(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    9(19363497-19368463)
    8(26059752-26067127)


    ENSEMBL Gene Tree for INPP5J (if available)
    TreeFam Gene Tree for INPP5J (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for INPP5J gene
    INPP5B2  SYNJ12  INPP5D2  OCRL2  INPP5K2  INPP5E2  INPPL12  SYNJ22  
    2 SIMAP similar genes for INPP5J using alignment to 6 protein entries:     PI5PA_HUMAN (see all proteins):
    INPP5K    SYNJ1

    INPP5J for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/236 NCBI SNPs in INPP5J are shown (see all 236    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1848256151,2
    --31516973(+) GATTGA/CATGAA 1 -- us2k10--------
    rs117031581,2
    C,H--31517035(+) tctttC/Tttttt 1 -- us2k1 trp30--------
    rs622361591,2
    --31517057(+) TGAGAA/CAGGGC 1 -- us2k10--------
    rs1895949861,2
    --31517097(+) TGGTAC/TGATCT 1 -- us2k10--------
    rs1456691351,2
    --31517181(+) GACTAC/GAGGCA 1 -- us2k10--------
    rs1176929031,2
    F--31517201(+) ACACCC/TGGCTC 1 -- us2k11Minor allele frequency- T:0.03NA 120
    rs1475526691,2
    --31517316(+) GATTAC/TCCGCA 1 -- us2k10--------
    rs1419800041,2
    --31517328(+) TTTGCC/TAGTAC 1 -- us2k10--------
    rs1457959791,2
    --31517344(+) CAGCCC/TGGGGG 1 -- us2k10--------
    rs1930874981,2
    --31517345(+) AGCCCA/GGGGGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for INPP5J (31518717 - 31530683 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for INPP5J: --

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    INPP5J for disorders           About GeneDecksing

    OMIM gene information: 606481    OMIM disorders: --

    7 diseases for INPP5J:    About MalaCards
    guillain-barre syndrome    developmental disabilities    oculocerebrorenal syndrome    glanders
    lymphoproliferative syndrome    breast cancer    neuronitis

    3 Novoseek disease relationships for INPP5J gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lowe syndrome 95 6 9430698 (1), 15353600 (1), 1321346 (1), 7762303 (1) (see all 5)
    developmental disabilities 25 1 7762303 (1)
    genetic disorder 11 1 9599410 (1)


    Export disorders for INPP5J 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 INPP5J gene, integrated from 9 sources (see all 79):
    (articles sorted by number of sources associating them with INPP5J)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2, 3 Dunham I....O'Brien K.P. (1999)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2004)
    4. Identification of a novel domain in two mammalian inositol- polyphosphate 5-phosphatases that mediates membrane ruffle localization. The inositol 5-phosphatase SKIP localizes to the endoplasmic reticulum and translocates to membrane ruffles following epidermal growth factor stimulation. (PubMed id 12536145)1, 9 Gurung R.... Mitchell C.A. (2003)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    6. The Protein Data Bank. (PubMed id 10592235)7 Berman H.M....Bourne P.E. (2000)
    7. Novel inositol polyphosphate 5-phosphatase localizes at membrane ruffles. (PubMed id 10593988)1 Mochizuki Y. and Takenawa T. (1999)
    8. A novel isoform of the smooth muscle cell differentiation marker smoothelin. (PubMed id 10023782)1 Kraemer J.... Leonhardt H. (1999)
    9. Toward a complete human genome sequence. (PubMed id 9847074)1 Wilson R. (1998)
    10. The inositol polyphosphate 5-phosphatase, PIPP, Is a novel regulator of phosphoinositide 3-kinase-dependent neurite elongation. (PubMed id 16280363)9 Ooms L.M....Mitchell C.A. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 27124 HGNC: 8956 AceView: PIB5PA Ensembl:ENSG00000185133 euGenes: HUgn27124
    ECgene: INPP5J Kegg: 27124 H-InvDB: INPP5J

    (According to HUGE)
    About This Section
      --

    (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 INPP5J 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 INPP5J gene:
    Search GeneIP for patents involving INPP5J

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



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    About This Section

     
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