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

INPP5B Gene

protein-coding   GIFtS: 64
GCID: GC01M038326

Inositol Polyphosphate-5-Phosphatase, 75kDa

(Previous names: inositol polyphosphate-5-phosphatase, 75kD)
  See related disease
at  

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

Aliases
Inositol Polyphosphate-5-Phosphatase, 75kDa1 2     Inositol Polyphosphate-5-Phosphatase, 75kD1
Phosphoinositide 5-Phosphatase2 3     Type II Inositol 1,4,5-Trisphosphate 5-Phosphatase2
5PTase2 3     Type II Inositol-1,4,5-Trisphosphate 5-Phosphatase2
75 KDa Inositol Polyphosphate-5-Phosphatase2 3     OCRL23
EC 3.1.3.363 8     EC 3.1.38

External Ids:    HGNC: 60771   Entrez Gene: 36332   Ensembl: ENSG000002040847   OMIM: 1472645   UniProtKB: P320193   

Export aliases for INPP5B gene to outside databases

Previous GC identifers: GC01M038162 GC01M037382 GC01M037754 GC01M037809 GC01M037807 GC01M037996 GC01M036444


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

Entrez Gene summary for INPP5B Gene:
Cellular calcium signaling is controlled by the production of inositol phosphates (IPs) by phospholipase C in
response to extracellular signals. The IP signaling molecules are inactivated by a family of inositol
polyphosphate-5-phosphatases (5-phosphatases). This gene encodes the type II 5-phosphatase. The protein is
localized to the cytosol and mitochondria, and associates with membranes through an isoprenyl modification near
the C-terminus. Several alternatively spliced transcript variants of this gene have been described, but the
full-length nature of some of these variants has not been determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for INPP5B Gene: 
INPP5B (inositol polyphosphate-5-phosphatase, 75kDa) is a protein-coding gene. Diseases associated with INPP5B include oculocerebrorenal syndrome, and among its related super-pathways are D-myo-inositol (1,3,4)-trisphosphate biosynthesis and Phosphatidylinositol signaling system. GO annotations related to this gene include inositol-1,4,5-trisphosphate 5-phosphatase activity and phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. An important paralog of this gene is INPP5J.

UniProtKB/Swiss-Prot: I5P2_HUMAN, P32019
Function: Hydrolyzes phosphatidylinositol 4,5-bisphosphate (PtIns(4,5)P2) and the signaling molecule
phosphatidylinositol 1,4,5-trisphosphate (PtIns(1,4,5)P3), and thereby modulates cellular signaling events

Gene Wiki entry for INPP5B 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the INPP5B gene promoter:
         GR   Spz1   USF1   Tal-1   GR-beta   CUTL1   E47   NRF-2   USF-1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidINPP5B promoter sequence
   Search SABiosciences Chromatin IP Primers for INPP5B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat INPP5B


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

Entrez Gene cytogenetic band: 1p34   Ensembl cytogenetic band:  1p34.3   HGNC cytogenetic band: 1p34

INPP5B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
INPP5B gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M038326:  view genomic region     (about GC identifiers)

Start:
38,326,369 bp from pter      End:
38,412,729 bp from pter
Size:
86,361 bases      Orientation:
minus strand

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

UniProtKB/Swiss-Prot: I5P2_HUMAN, P32019 (See protein sequence)
Recommended Name: Type II inositol 1,4,5-trisphosphate 5-phosphatase precursor  
Size: 993 amino acids; 112852 Da
Subunit: Interacts with APPL1, FAM109A and FAM109B. Interacts with several Rab GTPases, at least RAB1A, RAB2A,
RAB5A, RAB6A, RAB8A, RAB9A and RAB33B; these interactions may play a dual role in targeting INPP5B to the
specific membranes and stimulating the phosphatase activity
Subcellular location: Cytoplasm, cytosol. Endoplasmic reticulum-Golgi intermediate compartment. Early endosome
membrane. Membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle, phagosome membrane (By
similarity). Golgi apparatus
Sequence caution: Sequence=AAA79207.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for INPP5B:
3MTC (3D)        3N9V (3D)    
Secondary accessions: C9J6U5 Q5VSG9 Q5VSH0 Q5VSH1 Q658Q5 Q6P6D4 Q6PD53 Q86YE1
Alternative splicing: 4 isoforms:  P32019-1   P32019-2   P32019-3   P32019-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for INPP5B: NX_P32019

Explore proteomics data for INPP5B at MOPED 

Post-translational modifications:

  • UniProtKB: Isoprenylation at Cys-990 may be required for localization at the membrane
  • UniProtKB: May be proteolytically cleaved after Lys-320 as inferred from N-terminal protein sequence of the 75 kda form
    (PubMed:1718960)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P32019

  • 2 DME Specific Peptides for INPP5B (P32019)
     DTSEKCR  WLGDLNYR 

    INPP5B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    INPP5B Protein Expression
    REFSEQ proteins: NP_005531.2  
    ENSEMBL proteins: 
     ENSP00000362118   ENSP00000362117   ENSP00000362115   ENSP00000362112   ENSP00000362114  
     ENSP00000397748  
    Reactome Protein details: P32019
    Human Recombinant Protein Products for INPP5B: 
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    Cloud-Clone Corp. Proteins for INPP5B 

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IDA--
    GO:0005793endoplasmic reticulum-Golgi intermediate compartment IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0005829cytosol TAS--

    INPP5B for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: INPP5B 
    Inositol polyphosphate phosphatases

    4 InterPro protein domains:
     IPR008936 Rho_GTPase_activation_prot
     IPR000300 IPPc
     IPR005135 Endo/exonuclease/phosphatase
     IPR000198 RhoGAP_dom

    Graphical View of Domain Structure for InterPro Entry P32019

    ProtoNet protein and cluster: P32019

    2 Blocks protein domains:
    IPB000198 RhoGAP domain
    IPB000300 Inositol polyphosphate related phosphatase family


    UniProtKB/Swiss-Prot: I5P2_HUMAN, P32019
    Domain: The ASH (ASPM-SPD2-Hydin) and RhoGAP (Rho GTPase activating) domains form a single folding module. The ASH
    domain has an immunoglobulin-like fold, the Rho-GAP domain lacks the catalytic arginine and is catalytically
    inactive. The ASH-RhoGAP module regulates the majority of the protein-protein interactions currently described.
    The ASH domain mediates association with membrane-targeting Rab GTPases. The Rho-GAP domain interacts with the
    endocytic adapter APPL1, which is then displaced by FAM109A and FAM109B as endosomes mature, all three
    interactions relie on F&H motifs, an approximately 12-13 amino-acid sequence centered around Phe and His residues
    essential for binding (By similarity)
    Similarity: Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 Rho-GAP domain


    INPP5B for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: I5P2_HUMAN, P32019
    Function: Hydrolyzes phosphatidylinositol 4,5-bisphosphate (PtIns(4,5)P2) and the signaling molecule
    phosphatidylinositol 1,4,5-trisphosphate (PtIns(1,4,5)P3), and thereby modulates cellular signaling events
    Catalytic activity: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol
    4-phosphate + phosphate

         Genatlas biochemistry entry for INPP5B:
    inositol 1,4,5-triphosphate 5-phosphatase (75kDa),expressed in megakaryocytes,placenta,signal terminating reaction
    in the inositol signaling pathway

         Enzyme Numbers (IUBMB): EC 3.1.3.361 2 EC 3.1.32

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004439phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IDA7721860
    GO:0005515protein binding IPI--
    GO:0046872metal ion binding IEA--
    GO:0052658inositol-1,4,5-trisphosphate 5-phosphatase activity IDA7721860
         
    INPP5B for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for INPP5B:
     Decreased cilium length after   Decreased focal adhesion (FA)  

         7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Inpp5b):
     endocrine/exocrine gland  growth/size  homeostasis/metabolism  mortality/aging  renal/urinary system 
     reproductive system  vision/eye 

    INPP5B for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for INPP5B: Inpp5btm1Lex Inpp5btm1Nbm Inpp5btm2.1Nbm

       inGenious Targeting Laboratory - Custom generated mouse model solutions for INPP5B 
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    SwitchGear 3'UTR luciferase reporter plasmidINPP5B 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for INPP5B About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1D-myo-inositol (1,3,4)-trisphosphate biosynthesis
    D-myo-inositol (1,3,4)-trisphosphate biosynthesis0.76
    D-myo-inositol (1,4,5)-trisphosphate degradation0.65
    1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)0.76
    Synthesis of IP2, IP, and Ins in the cytosol0.50
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism0.75
    3-phosphoinositide degradation0.33
    2Inositol phosphate metabolism
    Inositol phosphate metabolism0.61
    superpathway of inositol phosphate compounds0.60
    Phosphatidylinositol signaling system0.61
    3Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    4Synthesis of IP3 and IP4 in the cytosol
    Inositol phosphate metabolism0.57
    Synthesis of IP3 and IP4 in the cytosol0.57
    5Rho GTPase cycle
    Signaling by Rho GTPases1.00
    Rho GTPase cycle1.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/6 BioSystems Pathways for INPP5B (see all 6)
        D-myo-inositol (1,4,5)-trisphosphate degradation
    1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)
    D-myo-inositol (1,3,4)-trisphosphate biosynthesis
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism
    3-phosphoinositide degradation

    5/7        Reactome Pathways for INPP5B (see all 7)
        Signaling by Rho GTPases
    Synthesis of IP2, IP, and Ins in the cytosol
    Metabolism
    Signal Transduction
    Inositol phosphate metabolism


    3         Kegg Pathways  (Kegg details for INPP5B):
        Inositol phosphate metabolism
    Metabolic pathways
    Phosphatidylinositol signaling system


    INPP5B for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for INPP5B

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

    5/83 Interacting proteins for INPP5B (P320193 ENSP000003621154) via UniProtKB, MINT, STRING, and/or I2D (see all 83)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMURF1Q9HCE73, ENSP000003546214I2D: score=1 STRING: ENSP00000354621
    FAM109BQ6ICB43I2D: score=4 
    NOTCH2Q047213I2D: score=3 
    INPP1ENSP000003254234STRING: ENSP00000325423
    INPP4AENSP000000743044STRING: ENSP00000074304
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0007165signal transduction ----
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007283spermatogenesis IEA--
    GO:0030317sperm motility IEA--

    INPP5B for ontologies           About GeneDecksing



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

    Browse Tocris compounds for INPP5B (I5P2)

    4 HMDB Compounds for INPP5B    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Phosphatidyl-D-myo-inositol1-Phosphatidyl-1D-myo-inositol (see all 6)----
    CalciumCa (see all 2)7440-70-2--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 DrugBank Compound for INPP5B    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    D-Myo-Inositol-1,4-Bisphosphate-- 47055-78-7target--17139284 17016423 10592235

    Search CenterWatch for drugs/clinical trials and news about INPP5B / I5P2

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

    REFSEQ mRNAs for INPP5B gene: 
    NM_005540.2  

    Unigene Cluster for INPP5B:

    Inositol polyphosphate-5-phosphatase, 75kDa
    Hs.449942  [show with all ESTs]
    Unigene Representative Sequence: NM_005540
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373027(uc001ccf.1) ENST00000373026 ENST00000373024 ENST00000487328
    ENST00000470364 ENST00000474758 ENST00000467066 ENST00000373021(uc001cch.3)
    ENST00000491406 ENST00000373023(uc009vvk.1 uc001ccg.1) ENST00000458109(uc010oij.1)

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    Additional mRNA sequence: 

    AK022846.1 AK093261.1 AK295062.1 AK310824.1 BC042529.2 BC058932.1 BC062317.1 M74161.1 

    12 DOTS entries:

    DT.209060  DT.412855  DT.101964233  DT.97841601  DT.100650948  DT.121337859  DT.95203290  DT.100817069 
    DT.91660584  DT.121337863  DT.92035289  DT.99950670 

    24/104 AceView cDNA sequences (see all 104):

    BU428554 AA022685 BM726587 BM690094 AL602688 BU520778 T26890 BQ435075 
    BG177736 AI658682 AW449256 AA759300 BM049448 BQ050663 AA768217 AW024114 
    BC058932 BE296519 AW300265 M74161 BF795714 AI082304 CD517636 BM561605 

    GeneLoc Exon Structure


    (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

    INPP5B expression in normal human tissues (normalized intensities)      INPP5B embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    INPP5B Expression
    About this image


    INPP5B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Lymph (Hematopoietic System)
             LYMPH NODE   

    See INPP5B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for INPP5B

    SOURCE GeneReport for Unigene cluster: Hs.449942

    UniProtKB/Swiss-Prot: I5P2_HUMAN, P32019
    Tissue specificity: Platelets

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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 animals.

    Orthologs for INPP5B gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Inpp5b1 , 5 inositol polyphosphate-5-phosphatase B1, 5 82.26(n)1
    82.14(a)1
      4 (57.89 cM)5
    163301  NM_008385.31  NP_032411.31 
     1247418505 
    chicken
    (Gallus gallus)
    Aves INPP5B1 inositol polyphosphate-5-phosphatase, 75kDa 71.06(n)
    70.43(a)
      419609  XM_417756.3  XP_417756.3 
    lizard
    (Anolis carolinensis)
    Reptilia INPP5B6
    Uncharacterized protein
    67(a)
    1 ↔ 1
    GL343426.1(579879-587195)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5635431 type II inositol-1,4,5-trisphosphate 5-phosphatase-like 65.71(n)
    66.67(a)
      563543  XM_686908.3  XP_692000.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ocrl6
    Oculocerebrorenal syndrome of Lowe 1 ortholog
    30(a)
    1 → many
    X(1817014-1821557)
    worm
    (Caenorhabditis elegans)
    Secernentea ocrl-11 Protein OCRL-1 43.56(n)
    32.6(a)
      172822  NM_001128948.1  NP_001122420.1 


    ENSEMBL Gene Tree for INPP5B (if available)
    TreeFam Gene Tree for INPP5B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for INPP5B gene
    INPP5J2  SYNJ12  OCRL2  INPP5D2  INPP5K2  INPP5E2  INPPL12  SYNJ22  
    1 SIMAP similar gene for INPP5B using alignment to 3 protein entries:     I5P2_HUMAN (see all proteins):
    OCRL

    INPP5B 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) 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

    10/1649 SNPs in INPP5B are shown (see all 1649)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1862092811,2
    --38327317(+) GAATTC/GCTTGA 1 -- ut310--------
    rs1116819501,2
    C,F--38327358(+) GACCAC/TGCCAA 1 -- ut311Minor allele frequency- T:0.50NA 2
    rs1483545021,2
    --38327359(+) ACCACA/GCCAAC 1 -- ut310--------
    rs127299891,2
    C,F--38327384(+) GCAACA/GAGAGT 1 -- ut315Minor allele frequency- G:0.40NA CSA 10
    rs127594001,2
    C,F--38327447(+) TCACAC/TCTGTA 1 -- ut31 ese36Minor allele frequency- T:0.33NA CSA 15
    rs1898919891,2
    --38327449(+) ACATCA/TGTAAT 1 -- ut310--------
    rs1820455091,2
    --38327474(+) AGGCCA/GAGGCA 1 -- ut310--------
    rs96602311,2
    C--38327586(+) GCCTGT/CAGTCC 1 -- ut31 ese37Minor allele frequency- C:0.00NA WA CSA 17
    rs610664121,2
    C--38327673(+) ACCGCA/CCTCCA 1 -- ut310--------
    rs785415701,2
    C--38327849(+) CTTAAT/CTGGGG 1 -- ut312Minor allele frequency- C:0.03CSA WA 119

    HapMap Linkage Disequilibrium report for INPP5B (38326369 - 38412729 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for INPP5B:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1640356CNV Deletion17803354
    esv2747275CNV Deletion23290073
    nsv510CNV Insertion18451855
    nsv870730CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 147264    OMIM disorders: --

    2 diseases for INPP5B:    About MalaCards
    oculocerebrorenal syndrome    

    1 disease from the University of Copenhagen DISEASES database for INPP5B:
    Oculocerebrorenal syndrome

    INPP5B for disorders           About GeneDecksing

    Genetic Association Database (GAD): INPP5B
    Human Genome Epidemiology (HuGE) Navigator: INPP5B (1 document)

    Export disorders for INPP5B 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 INPP5B gene, integrated from 9 sources (see all 32):
    (articles sorted by number of sources associating them with INPP5B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and expression of human 75-kDa inositol polyphosphate-5- phosphatase. (PubMed id 1718960)1, 2, 3 Ross T.S.... Majerus P.W. (1991)
    2. Novel association strategy with copy number variation for identifying new risk Loci of human diseases. (PubMed id 20808825)1, 4 Chen X....Kong X. (2010)
    3. Targeting of the type II inositol polyphosphate 5-phosphatase INPP5B to the early secretory pathway. (PubMed id 17956944)1, 2 Williams C....Lowe M. (2007)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    5. 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)
    6. Properties of type II inositol polyphosphate 5-phosphatase. (PubMed id 7721860)1, 2 Jefferson A.B. and Majerus P.W. (1995)
    7. Mapping of the 75-kDa inositol polyphosphate-5-phosphatase (Inpp5b) to distal mouse chromosome 4 and its exclusion as a candidate gene for dysgenetic lens. (PubMed id 8530037)1, 9 Janne P.A....Nussbaum R.L. (1995)
    8. Lowe syndrome patient fibroblasts display Ocrl1-speci fic cell migration defects that cannot be rescued by the homologous Inpp5b phos phatase. (PubMed id 19700499)1, 9 Coon B.G....Aguilar R.C. (2009)
    9. Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34. (PubMed id 8125013)1, 9 Janne P.A....Nussbaum R.L. (1994)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3633 HGNC: 6077 AceView: INPP5B Ensembl:ENSG00000204084 euGenes: HUgn3633
    ECgene: INPP5B Kegg: 3633 H-InvDB: INPP5B

    (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 INPP5B 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 INPP5B gene:
    Search GeneIP for patents involving INPP5B

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



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