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INPP5E Gene

protein-coding   GIFtS: 59
GCID: GC09M139323

Inositol Polyphosphate-5-Phosphatase, 72 KDa

(Previous name: Joubert syndrome 1)
(Previous symbol: JBTS1)
  See INPP5E-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Inositol Polyphosphate-5-Phosphatase, 72 KDa1 2     72 KDa Inositol Polyphosphate 5-Phosphatase2
JBTS11 2 5     CPD42
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase2 3     PPI5PIV2
Phosphatidylinositol Polyphosphate 5-Phosphatase Type IV2 3     Phosphatidylinositol (4,5) Bisphosphate 5-Phosphatase2
CORS12 5     Phosphatidylinositol-4,5-Bisphosphate 5-Phosphatase2
MORMS2 5     EC 3.1.3.363
Joubert Syndrome 11     

External Ids:    HGNC: 214741   Entrez Gene: 566232   Ensembl: ENSG000001483847   OMIM: 6130375   UniProtKB: Q9NRR63   

Export aliases for INPP5E gene to outside databases

Previous GC identifers: GC09P130372 GC09P130994 GC09M132764 GC09M134680 GC09M136598 GC09M138442 GC09M108782


(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 INPP5E Gene:
The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases
hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell
responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze
phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi
membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a
clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and
various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and
polydactyly.(provided by RefSeq, Feb 2011)

GeneCards Summary for INPP5E Gene:
INPP5E (inositol polyphosphate-5-phosphatase, 72 kDa) is a protein-coding gene. Diseases associated with INPP5E include morm syndrome, and inpp5e-related joubert syndrome. GO annotations related to this gene include phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity and inositol-polyphosphate 5-phosphatase activity. An important paralog of this gene is INPP5B.

UniProtKB/Swiss-Prot: INP5E_HUMAN, Q9NRR6
Function: Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2. Specific for lipid
substrates, inactive towards water soluble inositol phosphates

Gene Wiki entry for INPP5E 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 at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the INPP5E gene promoter:
         GR   HTF   GR-beta   Max   AREB6   FOXJ2 (long isoform)   c-Myb   FOXJ2   GR-alpha   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidINPP5E promoter sequence
   Search Chromatin IP Primers for INPP5E

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat INPP5E


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

Entrez Gene cytogenetic band: 9q34.3   Ensembl cytogenetic band:  9q34.3   HGNC cytogenetic band: 9q34.3

INPP5E Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
INPP5E gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M139323:  view genomic region     (about GC identifiers)

Start:
139,323,067 bp from pter      End:
139,334,274 bp from pter
Size:
11,208 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: INP5E_HUMAN, Q9NRR6 (See protein sequence)
Recommended Name: 72 kDa inositol polyphosphate 5-phosphatase  
Size: 644 amino acids; 70205 Da
Sequence caution: Sequence=AAB03215.1; Type=Miscellaneous discrepancy; Note=Several sequencing problems;
1 PDB 3D structure from and Proteopedia for INPP5E:
2XSW (3D)    
Secondary accessions: Q15734 Q6PIV5
Alternative splicing: 2 isoforms:  Q9NRR6-1   Q9NRR6-2   

Explore the universe of human proteins at neXtProt for INPP5E: NX_Q9NRR6

Explore proteomics data for INPP5E at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys521
  • Modification sites at PhosphoSitePlus

  • See INPP5E Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_063945.2  
    ENSEMBL proteins: 
     ENSP00000360777  
    Reactome Protein details: Q9NRR6

    INPP5E Human Recombinant Protein Products:

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    antibodies-online peptides for INPP5E

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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: INPP5E
    Inositol polyphosphate phosphatases

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

    Graphical View of Domain Structure for InterPro Entry Q9NRR6

    ProtoNet protein and cluster: Q9NRR6

    1 Blocks protein domain: IPB000300 Inositol polyphosphate related phosphatase family

    UniProtKB/Swiss-Prot: INP5E_HUMAN, Q9NRR6
    Similarity: Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type IV family


    Find genes that share domains with INPP5E           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: INP5E_HUMAN, Q9NRR6
    Function: Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2. Specific for lipid
    substrates, inactive towards water soluble inositol phosphates
    Catalytic activity: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol
    4-phosphate + phosphate
    Enzyme regulation: Active in the presence of octyl-glucoside or Triton X-100, but completely inhibited by CTAB

         Enzyme Number (IUBMB): EC 3.1.3.361

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004439phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IEA--
    GO:0004445inositol-polyphosphate 5-phosphatase activity TAS10764818
         
    Find genes that share ontologies with INPP5E           About GenesLikeMe


    Phenotypes:
         5 GenomeRNAi human phenotypes for INPP5E:
     Decreased cilium length  Decreased cilium length after   Increased Akt phosphorylation   Increased Erk phosphorylation  
     Increased gamma-H2AX phosphory 

         12 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Inpp5e):
     cellular  craniofacial  digestive/alimentary  embryogenesis  growth/size/body 
     limbs/digits/tail  mortality/aging  nervous system  no phenotypic analysis  renal/urinary system 
     skeleton  vision/eye 

    Find genes that share phenotypes with INPP5E           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Inpp5etm1.2Ssch for INPP5E

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for INPP5E
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for INPP5E
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for INPP5E

    miRNA
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    miRTarBase miRNAs that target INPP5E:
    hsa-mir-425-5p (MIRT039344)

    Block miRNA regulation of human, mouse, rat INPP5E using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate INPP5E (see all 12):
    hsa-miR-28-3p hsa-miR-3688-3p hsa-miR-181c hsa-miR-586 hsa-miR-181a hsa-miR-181d hsa-miR-32* hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidINPP5E 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    INP5E_HUMAN, Q9NRR6: Cytoplasm, cytoskeleton, cilium axoneme. Golgi apparatus, Golgi stack membrane; Peripheral
    membrane protein; Cytoplasmic side (By similarity). Note=Peripheral membrane protein associated with Golgi stacks
    (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytosol4
    cytoskeleton3
    nucleus2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane ----
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton IEA--
    GO:0005930axoneme IDA19668215
    GO:0032580Golgi cisterna membrane IEA--

    Find genes that share ontologies with INPP5E           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for INPP5E About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    2PI Metabolism
    PI Metabolism0.65
    Synthesis of PIPs at the Golgi membrane0.00
    3Inositol phosphate metabolism (KEGG)
    Inositol phosphate metabolism0.61
    Phosphatidylinositol signaling system0.61
    4Glycerophospholipid biosynthesis
    Phospholipid metabolism0.64
    53-phosphoinositide degradation
    3-phosphoinositide degradation


    Find genes that share SuperPaths with INPP5E           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for INPP5E
        3-phosphoinositide degradation

    1 Reactome Pathway for INPP5E
        Synthesis of PIPs at the Golgi membrane


    3 Kegg Pathways  (Kegg details for INPP5E):
        Inositol phosphate metabolism
    Metabolic pathways
    Phosphatidylinositol signaling system

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for INPP5E
    Interactions:

        Search GeneGlobe Interaction Network for INPP5E

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

    Selected Interacting proteins for INPP5E (Q9NRR63 ENSP000003607774) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAGP619813, ENSP000003063304I2D: score=1 STRING: ENSP00000306330
    DENND6BQ8NEG73I2D: score=5 
    TP53P046373I2D: score=1 
    TP63Q9H3D43I2D: score=1 
    TP73O153503I2D: score=1 
    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:0008150biological_process ND--
    GO:0044281small molecule metabolic process TAS--
    GO:0046488phosphatidylinositol metabolic process ----

    Find genes that share ontologies with INPP5E           About GenesLikeMe



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

    Browse Tocris compounds for INPP5E (INP5E)

    3 HMDB Compounds for INPP5E    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Phosphatidyl-D-myo-inositol1-Phosphatidyl-1D-myo-inositol (see all 6)----
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    2 Novoseek inferred chemical compound relationships for INPP5E gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol-3,4,5-trisphosphate 72.4 1 12536145 (1)
    inositol 56.2 4 19668216 (2), 12536145 (1), 16213748 (1)



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    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for INPP5E gene: 
    NM_019892.4  

    Unigene Cluster for INPP5E:

    Inositol polyphosphate-5-phosphatase, 72 kDa
    Hs.120998  [show with all ESTs]
    Unigene Representative Sequence: BC028032
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000371712(uc004cho.3 uc010nbm.3)
    miRNA
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    Additional mRNA sequence: 

    AF187891.1 AL832846.1 BC028032.1 BC109224.1 BC110356.1 U45974.1 

    7 DOTS entries:

    DT.97839981  DT.413151  DT.40307023  DT.91874150  DT.92420423  DT.95083310  DT.100749719 

    Selected AceView cDNA sequences (see all 88):

    AA301362 AA988145 AF187891 BM766952 F12413 AL047752 BQ188130 CA392343 
    BQ549922 BF197797 BQ185305 BC028032 AI634324 AI274971 BQ614142 AI933447 
    AA916807 AW204930 NM_019892 BX107239 U45974 BE044535 BQ022306 BG533779 

    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™, 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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    INPP5E expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    INPP5E Expression
    About this image

    INPP5E Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    INPP5E Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.120998

    UniProtKB/Swiss-Prot: INP5E_HUMAN, Q9NRR6
    Tissue specificity: Detected in brain, heart, pancreas, testis and spleen

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INPP5E

    (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 and fungi.

    Orthologs for INPP5E gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Inpp5e1 , 5 inositol polyphosphate-5-phosphatase E1, 5 78.41(n)1
    78.3(a)1
      2 (18.88 cM)5
    644361  NM_033134.21  NP_149125.11 
     263962495 
    chicken
    (Gallus gallus)
    Aves INPP5E1 inositol polyphosphate-5-phosphatase, 72 kDa 67.02(n)
    67.91(a)
      417135  XM_415418.4  XP_415418.2 
    lizard
    (Anolis carolinensis)
    Reptilia INPP5E6
    inositol polyphosphate-5-phosphatase, 72 kDa
    63(a)
    1 ↔ 1
    GL344440.1(16413-33683)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.129032 Transcribed sequence with weak similarity to protein more 74.24(n)    BX720521.1 
    zebrafish
    (Danio rerio)
    Actinopterygii inpp5e1 inositol polyphosphate-5-phosphatase 65.45(n)
    66.51(a)
      606579  NM_001102619.2  NP_001096089.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG87283 mitochondrial processing peptidase 54(a)   43F3   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y71G12B.243   -- 40(a)   I(1740764-1750945)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes INP516
    Phosphatidylinositol 4,5-bisphosphate 5-phosphatas...
    12(a)
    1 ↔ 1
    IX(350591-353431) YIL002C


    ENSEMBL Gene Tree for INPP5E (if available)
    TreeFam Gene Tree for INPP5E (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for INPP5E gene
    INPP5B2  INPP5J2  SYNJ12  OCRL2  INPP5D2  INPP5K2  INPPL12  SYNJ22  

    Find genes that share paralogs with INPP5E           About GenesLikeMe



    (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 INPP5E (see all 431)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0630174
    Joubert syndrome 1 (JBTS1)4--see VAR_0630172 K E mis40--------
    VAR_0630164
    Joubert syndrome 1 (JBTS1)4--see VAR_0630162 R H mis40--------
    VAR_0630134
    Joubert syndrome 1 (JBTS1)4--see VAR_0630132 R Q mis40--------
    VAR_0630154
    Joubert syndrome 1 (JBTS1)4--see VAR_0630152 R W mis40--------
    VAR_0630124
    Joubert syndrome 1 (JBTS1)4--see VAR_0630122 R C mis40--------
    VAR_0630144
    Joubert syndrome 1 (JBTS1)4--see VAR_0630142 R W mis40--------
    rs132975091,2
    C,Apathogenic1139326282(+) TTTCCA/G/TCATCT 2 R W mis1 ese30--------
    rs1219181301,2
    Cpathogenic1139327634(-) TCATCC/TGCAGG 2 R C mis11Minor allele frequency- T:0.00NA 4174
    rs340489221,2
    C--139322576(+) ATGTA-/TTTATT 1 -- ds50010--------
    rs1828599581,2
    --139322615(+) CCCAGC/GCTGGA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for INPP5E (139323067 - 139334274 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for INPP5E (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1287350CNV Deletion17803354
    esv2426973CNV Deletion19546169
    esv1420798CNV Deletion17803354
    nsv509333CNV Insertion20534489
    nsv6766CNV Insertion18451855
    nsv894367CNV Loss21882294
    nsv894294CNV Loss21882294
    dgv8395n71CNV Loss21882294
    dgv8396n71CNV Loss21882294
    nsv894365CNV Loss21882294

    Human Gene Mutation Database (HGMD): INPP5E
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing INPP5E
    DNA2.0 Custom Variant and Variant Library Synthesis for INPP5E

    (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.)
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    OMIM gene information: 613037   
    OMIM disorders: 610156  213300  
    UniProtKB/Swiss-Prot: INP5E_HUMAN, Q9NRR6
  • Joubert syndrome 1 (JBTS1) [MIM:213300]: A disorder presenting with cerebellar ataxia, oculomotor
    apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is
    characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles,
    and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar
    tooth sign). Additional variable features include retinal dystrophy and renal disease. Note=The disease is caused
    by mutations affecting the gene represented in this entry
  • Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORMS) [MIM:610156]: An autosomal
    recessive disorder characterized by moderate mental retardation, truncal obesity, congenital non-progressive
    retinal dystrophy, and micropenis in males. The phenotype is similar to Bardet-Biedl syndrome and Cohen syndrome
    Distinguishing features are the age of onset, the non-progressive nature of the visual impairment, lack of
    dysmorphic facies, skin or gingival infection, microcephaly, mottled retina, polydactyly, and testicular
    anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 9 diseases for INPP5E:    
    About MalaCards
    morm syndrome    inpp5e-related joubert syndrome    joubert syndrome    oculocerebrorenal syndrome
    doid:4019    joubert syndrome 14    coach syndrome    joubert syndrome and related disorders
    joubert syndrome 21

    5 diseases from the University of Copenhagen DISEASES database for INPP5E:
    Oculocerebrorenal syndrome     Fanconi syndrome     Nephronophthisis     Apraxia
    DOID:4019

    Find genes that share disorders with INPP5E           About GenesLikeMe

    1 Novoseek inferred disease relationship for INPP5E gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lowe syndrome 96.3 6 9593760 (2), 8634694 (1), 9854717 (1), 17162149 (1) (see all 5)

    GeneTests: INPP5E
    GeneReviews: INPP5E
    Human Genome Epidemiology (HuGE) Navigator: INPP5E (2 documents)

    Export disorders for INPP5E 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 INPP5E gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with INPP5E)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. (PubMed id 19668216)1, 2, 3, 9 Bielas S.L....Gleeson J.G. (Nat. Genet. 2009)
    2. The isolation and characterization of a cDNA encoding phospholipid- specific inositol polyphosphate 5-phosphatase. (PubMed id 10764818)1, 2, 3 Kisseleva M.V.... Majerus P.W. (J. Biol. Chem. 2000)
    3. INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. (PubMed id 19668215)1, 2 Jacoby M.... Schurmans S. (Nat. Genet. 2009)
    4. Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. (PubMed id 10577920)1, 3 Saar K....Bayoumi R. (Am. J. Hum. Genet. 1999)
    5. ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting. (PubMed id 23150559)1 Humbert M.C....Seo S. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    6. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (Nature 2012)
    7. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. (PubMed id 21068128)1 Otto E.A.... Hildebrandt F. (J. Med. Genet. 2011)
    8. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    9. Assembly and replication of HIV-1 in T cells with low levels of phosphatidylinositol-(4,5)-bisphosphate. (PubMed id 21270152)1 Monde K....Ono A. (J. Virol. 2011)
    10. Gag localization and virus-like particle release mediated by the matrix domain of human T-lymphotropic virus type 1 Gag are less dependent on phosphatidylinositol-(4,5)-bisphosphate than those mediated by the matrix domain of HIV-1 Gag. (PubMed id 21289126)1 Inlora J....Ono A. (J. Virol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    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: 56623 HGNC: 21474 AceView: INPP5E Ensembl:ENSG00000148384 euGenes: HUgn56623
    ECgene: INPP5E Kegg: 56623 H-InvDB: INPP5E

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for INPP5E Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for INPP5E gene:
    Search GeneIP for patents involving INPP5E

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



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