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

INPP5E Gene

protein-coding   GIFtS: 57
GCID: GC09M139323

inositol polyphosphate-5-phosphatase, 72 kDa

(Previous name: Joubert syndrome 1 )
(Previous symbol: JBTS1)
 Explore 26 diseases affiliated with
INPP5E via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for INPP5E    

Aliases
for INPP5E gene

(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, 72 KDa1 2     Joubert Syndrome 11
CORS11 2 5     72 KDa Inositol Polyphosphate 5-Phosphatase2
JBTS11 2 5     CPD42
PPI5PIV1 2     Phosphatidylinositol (4,5) Bisphosphate 5-Phosphatase2
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase2 3     Phosphatidylinositol-4,5-Bisphosphate 5-Phosphatase2
Phosphatidylinositol Polyphosphate 5-Phosphatase Type IV2 3     EC 3.1.3.363
MORMS2 5     

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


Summaries
for INPP5E gene

(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 INPP5E:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_024000.16  
Regulatory elements:
   SABiosciences 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 plasmid: INPP5E promoter sequence
   Search SABiosciences Chromatin IP Primers for INPP5E

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 139,323,071 bp from pter      End:
 139,334,274 bp from pter
Size:
 11,204 bases      Orientation:
 minus strand

Proteins
for INPP5E gene

(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: INP5E_HUMAN, Q9NRR6 (See protein sequence)
Recommended Name: 72 kDa inositol polyphosphate 5-phosphatase  
Size: 644 amino acids; 70205 Da
Subcellular location: 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)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NRR6

    • INPP5E Protein expression data from MOPED and PaxDb:    About this image 
    INPP5E Protein Expression
    REFSEQ proteins: NP_063945.2  
    ENSEMBL proteins: 
     ENSP00000360777  
    Reactome Protein details: Q9NRR6
    Human Recombinant Protein Products for INPP5E: 
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    Uscn Proteins for INPP5E

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane ----
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane ----

    INPP5E for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for INPP5E

    Protein Domains /
    Families
    for INPP5E gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    INPP5E for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry Q9NRR6

    ProtoNet protein and cluster: Q9NRR6

    1 Blocks protein family: 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


    Function
    for INPP5E gene

    (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: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004439phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IEA--
    GO:0004445inositol-polyphosphate 5-phosphatase activity TAS10764818
         
    INPP5E for ontologies           About GeneDecksing


    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 
     limbs/digits/tail  mortality/aging  nervous system  no phenotypic analysis  renal/urinary system 
     skeleton  vision/eye 

    INPP5E for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Inpp5etm1.2Ssch for INPP5E
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for INPP5E 

    miRNA
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    8/12 QIAGEN miScript miRNA 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 plasmid: INPP5E 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INPP5E


    Pathways & Interactions
    for INPP5E gene

    (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 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    2Inositol phosphate metabolism
    		Inositol phosphate metabolism1.00
    		Phosphatidylinositol signaling system0.59
    3PI Metabolism
    		PI Metabolism1.00
    4Glycerophospholipid biosynthesis
    		Phospholipid metabolism0.64
    5D-myo-inositol (1,3,4)-trisphosphate biosynthesis
    		3-phosphoinositide degradation0.33

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for INPP5E 
        3-phosphoinositide degradation

    5        Reactome Pathways for INPP5E
        Metabolism
    Phospholipid metabolism
    Metabolism of lipids and lipoproteins
    PI Metabolism
    Synthesis of PIPs at the Golgi membrane


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


    INPP5E for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for INPP5E

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

    5/42 Interacting proteins for INPP5E (Q9NRR63 ENSP000003607774) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    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): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0008150biological_process ND--
    GO:0010976positive regulation of neuron projection development ----
    GO:0044281small molecule metabolic process TAS--

    INPP5E for ontologies           About GeneDecksing



    Drugs & Compounds
    for INPP5E gene

    (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

    INPP5E for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for INPP5E

    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 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)

    Search CenterWatch for drugs/clinical trials and news about INPP5E / INP5E 

    Transcripts
    for INPP5E gene

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    8/12 QIAGEN miScript miRNA 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 plasmid: INPP5E 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA 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 

    24/88 AceView cDNA sequences (see all 88):

    AA301362 NM_019892 BQ188130 BQ549922 BM766952 AI933447 AA988145 AA916807 
    AI274971 AL047752 F12413 BC028032 AF187891 AI634324 AW204930 CA392343 
    BQ185305 BF197797 BQ614142 BE326482 BQ022306 BI521436 BG533779 BF205976 

    GeneLoc Exon Structure


    Expression
    for INPP5E gene

    (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

    INPP5E expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    INPP5E Expression
    About this image
    See INPP5E Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for INPP5E

    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:     
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    Orthologs
    for INPP5E gene

    (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 INPP5E gene from 9/23 species (see all 23)    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 77.93(n)1
    77.26(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 66.9(n)
    67.94(a)    		   417135  XM_415418.3  XP_415418.2 
    lizard
    (Anolis carolinensis)    		 Reptilia INPP5E6
    		 --
    		 65(a)
    		 1 ↔ 1
    		 GL344440.1(16413-30873)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia Str.129032 Transcribed sequence with weak similarity to protein refNP_063945.1 (H.sapiens) phosphatidylinositol (4,5) bisphosphate 5-phosphatase homolog; p [Homo sapiens] less 74.24(n)    BX720521.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii inpp5e1 inositol polyphosphate-5-phosphatase 60.17(n)
    58.86(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)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT5PTASE116
    		 Type I inositol-1,4,5-trisphosphate 5-phosphatase ...
    		 24(a)
    		 1 ↔ 1
    		 1(17435565-17438396)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 endonuclease/exonuclease/phosphatase family domain...
    		 26(a)
    		 1 ↔ 1
    		 3(23848144-23850362)


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

    Paralogs
    for INPP5E gene

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

    INPP5E for paralogs           About GeneDecksing



    Genomic Variants
    for INPP5E gene

    (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

    10/288 NCBI SNPs in INPP5E are shown (see all 288)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs132975091,2
    		C,Apathogenic108785354(+) TTTCCA/G/TCATCT 3 R W syn1 mis1 ese30--------
    rs1219181301,2
    		Cpathogenic139327634(-) TCATCC/TGCAGG 2 R C mis11Minor allele frequency- T:0.00NA 4174
    rs802373311,2
    		F--108785343(+) AGGCCC/ATCACC 1 -- int11Minor allele frequency- A:0.50NA 4
    rs132940001,2
    		C--108785350(+) CACCTC/TTCCGC 2 K R mis10--------
    rs340489221,2
    		C--139322576(+) ATGTA-/TTTATT 1 -- ds50010--------
    rs1828599581,2
    		--139322615(+) CCCAGC/GCTGGA 1 -- ds50010--------
    rs1485707551,2
    		--139322639(+) ATCTCA/GGCTCA 1 -- ds50010--------
    rs1429297881,2
    		--139322682(+) CTCCTA/GCCTCA 1 -- ds50010--------
    rs1887569061,2
    		--139322710(+) GATTAC/TAGGCG 1 -- ds50010--------
    rs1932949071,2
    		--139322719(+) CGCCCA/GCCACC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for INPP5E (139323071 - 139334274 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 8 variations for INPP5E
         6 CNVs: 3785 30350 30354 100808 30355 0133
         2 Indels: 29093 70835
    Human Gene Mutation Database (HGMD): INPP5E

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for INPP5E

    Disorders / Diseases
    for INPP5E gene

    (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
    INPP5E for disorders           About GeneDecksing

    OMIM gene information: 613037   
    OMIM disorders: 610156  213300  
    UniProtKB/Swiss-Prot: INP5E_HUMAN, Q9NRR6
  • Defects in INPP5E are the cause of Joubert syndrome type 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
  • Defects in INPP5E are the cause of mental retardation-truncal obesity-retinal dystrophy-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

    20/26 diseases for INPP5E (see all 26):    About MalaCards
    joubert syndrome    nephronophthisis    polydactyly    oculomotor apraxia
    bardet-biedl syndrome    retinitis    micropenis    liver fibrosis
    non-hodgkin lymphoma    apraxia    cohen syndrome    fundus dystrophy
    oculocerebrorenal syndrome    dent disease    hodgkin's lymphoma    fibrosis
    cerebellar ataxia    glanders    fanconi syndrome    protein s deficiency

    4 diseases from the University of Copenhagen DISEASES database for INPP5E:
    Nephronophthisis     Apraxia     DOID:4019     Fundus dystrophy

    1 Novoseek 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
    Joubert Syndrome

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

    Export disorders for INPP5E gene to outside databases

    Publications
    for INPP5E gene

    (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 INPP5E gene, integrated from 9 sources (see all 30):
    (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. (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. (2000)
    3. INPP5E mutations cause primary cilium signaling defec ts, ciliary instability and ciliopathies in human and mouse. (PubMed id 19668215)1, 2 Jacoby M....Schurmans S. (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. (1999)
    5. ARL13B, PDE6D, and CEP164 form a functional network fo r INPP5E ciliary targeting. (PubMed id 23150559)1 Humbert M.C....Seo S. (2012)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. 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. (2011)
    8. Gag localization and virus-like particle release media ted by the matrix domain of human T-lymphotropic virus type 1 Gag are less depen dent on phosphatidylinositol-(4,5)-bisphosphate than those mediated by the matri x domain of HIV-1 Gag. (PubMed id 21289126)1 Inlora J....Ono A. (2011)
    9. Meta-analysis identifies 29 additional ulcerative col itis risk loci, increasing the number of confirmed associations to 47. (PubMed id 21297633)1 Anderson C.A....Rioux J.D. (2011)
    10. Mutation analysis of 18 nephronophthisis associated c iliopathy disease genes using a DNA pooling and next generation sequencing stra tegy. (PubMed id 21068128)1 Otto E.A....Hildebrandt F. (2010)

    External Searches for INPP5E gene

    (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)

    Genome Databases showing INPP5E gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 56623 HGNC: 21474 AceView: INPP5E Ensembl:ENSG00000148384 euGenes: HUgn56623
    ECgene: INPP5E Kegg: 56623 H-InvDB: INPP5E

    Other Databases showing INPP5E gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing INPP5E gene

    (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 INPP5E Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for INPP5E gene

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



    Products
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    About This Section

     
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