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INPP5F Gene

protein-coding   GIFtS: 56
GCID: GC10P121485

Inositol Polyphosphate-5-Phosphatase F

Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Inositol Polyphosphate-5-Phosphatase F1 2     EC 3.1.3.-3
Sac Domain-Containing Phosphoinositide 5-Phosphatase 22 3     KIAA09663
SAC22 3     Inositol Polyphosphate 5-Phosphatase F3
hSAC22 3     EC 3.1.38
Sac Domain-Containing Inositol Phosphatase 22 3     EC 3.1.3.168
MSTPO472     EC 3.1.3.368
Phosphatidylinositide Phosphatase SAC22     

External Ids:    HGNC: 170541   Entrez Gene: 228762   Ensembl: ENSG000001988257   OMIM: 6093895   UniProtKB: Q9Y2H23   

Export aliases for INPP5F gene to outside databases

Previous GC identifers: GC10P121616 GC10P121150 GC10P121475 GC10P115115


(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 INPP5F Gene:
The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac
domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and
phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms
have been observed for this gene. (provided by RefSeq, Aug 2011)

GeneCards Summary for INPP5F Gene:
INPP5F (inositol polyphosphate-5-phosphatase F) is a protein-coding gene. Diseases associated with INPP5F include alzheimer's disease, and cerebritis. GO annotations related to this gene include phosphoric ester hydrolase activity. An important paralog of this gene is SACM1L.

UniProtKB/Swiss-Prot: SAC2_HUMAN, Q9Y2H2
Function: Inositol 5-phosphatase which acts on phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol
3,4,5-trisphosphate. Hydrolyzes phosphatidylinositol 4,5-bisphosphate most effectively. Modulates AKT/GSK3B
pathway by decreasing AKT and GSK3B phosphorylation




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the INPP5F gene promoter:
         TBP   AML1a   FOXF2   MIF-1   RORalpha2   S8   PPAR-gamma1   TFIID   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidINPP5F promoter sequence
   Search Chromatin IP Primers for INPP5F

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat INPP5F


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

Entrez Gene cytogenetic band: 10q26.11   Ensembl cytogenetic band:  10q26.11   HGNC cytogenetic band: 10q26.13

INPP5F Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
INPP5F gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P121485:  view genomic region     (about GC identifiers)

Start:
121,485,609 bp from pter      End:
121,588,659 bp from pter
Size:
103,051 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SAC2_HUMAN, Q9Y2H2 (See protein sequence)
Recommended Name: Phosphatidylinositide phosphatase SAC2  
Size: 1132 amino acids; 128407 Da
Miscellaneous: Inositol polyphosphate 5-phosphatases usually have 2 conserved motifs that are essential for
5-phosphatase activity. However, INPP5F does not contain such motifs, and phosphatase activity seems to exist in
the SAC domain, suggesting a new type of phosphoinositide 5-phosphatase
Sequence caution: Sequence=BAA76810.2; Type=Erroneous initiation;
Secondary accessions: B3KRF1 D3DRD1 Q2T9J4 Q5W135 Q5W136 Q6NVY2 Q86U97 Q9H3D9 Q9NT51
Alternative splicing: 4 isoforms:  Q9Y2H2-1   Q9Y2H2-2   Q9Y2H2-3   Q9Y2H2-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for INPP5F: NX_Q9Y2H2

Explore proteomics data for INPP5F at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for INPP5F (Q9Y2H2) (see all 5)
     IGDAYLK  FVQTRGS  QTRGSVP  DCLDRTN 


    See INPP5F Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001230123.1  NP_001230124.1  NP_055752.1  

    ENSEMBL proteins: 
     ENSP00000354519   ENSP00000358077   ENSP00000358076   ENSP00000358079  

    INPP5F Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for INPP5F

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    Cloud-Clone Corp. CLIAs for INPP5F


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR002013 Syja_N
     IPR022158 Inositol_phosphatase

    Graphical View of Domain Structure for InterPro Entry Q9Y2H2

    ProtoNet protein and cluster: Q9Y2H2

    1 Blocks protein domain: IPB002013 Synaptojanin

    UniProtKB/Swiss-Prot: SAC2_HUMAN, Q9Y2H2
    Similarity: Contains 1 SAC domain


    INPP5F for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SAC2_HUMAN, Q9Y2H2
    Function: Inositol 5-phosphatase which acts on phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol
    3,4,5-trisphosphate. Hydrolyzes phosphatidylinositol 4,5-bisphosphate most effectively. Modulates AKT/GSK3B
    pathway by decreasing AKT and GSK3B phosphorylation
    Biophysicochemical properties: Kinetic parameters: KM=14.3 uM for PtdIns(4,5)P2 (at pH 6.0);

         Enzyme Numbers (IUBMB): EC 3.1.3.362 EC 3.1.32 EC 3.1.3.162 EC 3.1.3.-1

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042578phosphoric ester hydrolase activity IEA--
         
    INPP5F for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Inpp5f):
     cardiovascular system  cellular  homeostasis/metabolism  muscle 

    INPP5F for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for INPP5F
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for INPP5F
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for INPP5F

    miRNA
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    miRTarBase miRNAs that target INPP5F:
    hsa-mir-30c-5p (MIRT048003), hsa-mir-186-5p (MIRT045274), hsa-mir-335-5p (MIRT018546), hsa-mir-215-5p (MIRT024458), hsa-mir-192-5p (MIRT026776), hsa-mir-1 (MIRT002802), hsa-mir-155-5p (MIRT020983)

    Block miRNA regulation of human, mouse, rat INPP5F using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate INPP5F (see all 12):
    hsa-miR-142-3p hsa-miR-495 hsa-miR-548d-3p hsa-miR-548am hsa-miR-7-2* hsa-miR-20b* hsa-miR-421 hsa-miR-105
    SwitchGear 3'UTR luciferase reporter plasmidINPP5F 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for INPP5F
    Predesigned siRNA for gene silencing in human, mouse, rat INPP5F

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: INPP5F (NM_014937)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for INPP5F
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INPP5F

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INPP5F


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    cytoskeleton1

    (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 INPP5F About    
    See pathways by source

    SuperPathContained pathways About
    1Inositol phosphate metabolism (KEGG)
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism0.00
    D-myo-inositol (1,4,5)-trisphosphate degradation0.00
    23-phosphoinositide degradation
    3-phosphoinositide degradation


    3 BioSystems Pathways for INPP5F
        D-myo-inositol (1,4,5)-trisphosphate degradation
    3-phosphoinositide degradation
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for INPP5F
    Interactions:

        Search GeneGlobe Interaction Network for INPP5F

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

    Selected Interacting proteins for INPP5F (ENSP000003545194) via UniProtKB, MINT, STRING, and/or I2D (see all 92)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTENENSP000003610214STRING: ENSP00000361021
    SACM1LENSP000003737134STRING: ENSP00000373713
    INPP1ENSP000003254234STRING: ENSP00000325423
    INPP4AENSP000000743044STRING: ENSP00000074304
    INPP4BENSP000002629924STRING: ENSP00000262992
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0014898cardiac muscle hypertrophy in response to stress IEA--
    GO:0031161phosphatidylinositol catabolic process IEA--
    GO:0048015phosphatidylinositol-mediated signaling IEA--
    GO:0051896regulation of protein kinase B signaling IEA--

    INPP5F for ontologies           About GeneDecksing



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

    Browse Tocris compounds for INPP5F (SAC2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for INPP5F gene (3 alternative transcripts): 
    NM_001243194.1  NM_001243195.1  NM_014937.3  

    Unigene Cluster for INPP5F:

    Inositol polyphosphate-5-phosphatase F
    Hs.369755  [show with all ESTs]
    Unigene Representative Sequence: NM_014937
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361976(uc001leo.3 uc001lep.3) ENST00000369081 ENST00000369080
    ENST00000490818 ENST00000369083(uc001len.4)

    miRNA
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    Block miRNA regulation of human, mouse, rat INPP5F using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate INPP5F (see all 12):
    hsa-miR-142-3p hsa-miR-495 hsa-miR-548d-3p hsa-miR-548am hsa-miR-7-2* hsa-miR-20b* hsa-miR-421 hsa-miR-105
    SwitchGear 3'UTR luciferase reporter plasmidINPP5F 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for INPP5F
    Predesigned siRNA for gene silencing in human, mouse, rat INPP5F
    Clone
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    OriGene clones in human, mouse for INPP5F (see all 7)
    OriGene ORF clones in mouse, rat for INPP5F
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: INPP5F (NM_014937)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for INPP5F
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INPP5F
    Primer
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    OriGene qPCR primer pairs and template standards for INPP5F
    OriGene qSTAR qPCR primer pairs in human, mouse for INPP5F
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat INPP5F
      QuantiTect SYBR Green Assays in human, mouse, rat INPP5F
      QuantiFast Probe-based Assays in human, mouse, rat INPP5F

    Additional mRNA sequence: 

    AB023183.1 AF109361.1 AF113227.1 AK091448.1 AK123633.1 AK307758.1 AL137528.1 BC052367.1 
    BC067820.1 BC082755.1 BC111493.1 

    13 DOTS entries:

    DT.451335  DT.100820691  DT.92429218  DT.121262194  DT.100820690  DT.102827673  DT.102827674  DT.102827675 
    DT.121262223  DT.121262227  DT.40124998  DT.92414438  DT.95207495 

    Selected AceView cDNA sequences (see all 177):

    AI399774 BC067820 Z42439 BM929496 NM_198330 AI538500 CB410142 AI492073 
    AA300509 BU165699 AA430333 BU782077 AW771954 BE671713 BU161271 NM_014937 
    AI144177 BX279573 AB023183 AL137528 BU782961 BQ722474 AA677508 BQ937770 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for INPP5F (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^
    SP1:                                                                          -                             -                             -     -     -         
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                  -         
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 19 ^ 20 ^ 21 ^ 22a · 22b
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for INPP5F

    (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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    INPP5F expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGATTGAGGC
    INPP5F Expression
    About this image


    INPP5F expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)
             Metencephalon
    INPP5F Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    INPP5F Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.369755

    UniProtKB/Swiss-Prot: SAC2_HUMAN, Q9Y2H2
    Tissue specificity: Ubiquitous

        Custom PCR Arrays for INPP5F
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat INPP5F
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    QuantiFast Probe-based Assays in human, mouse, rat INPP5F
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INPP5F

    (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 INPP5F gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Inpp5f1 , 5 inositol polyphosphate-5-phosphatase F1, 5 86.93(n)1
    90.53(a)1
      7 (70.32 cM)5
    1014901  NM_178641.51  NP_848756.21 
     1286113285 
    chicken
    (Gallus gallus)
    Aves INPP5F1 inositol polyphosphate-5-phosphatase F 78.34(n)
    83.69(a)
      423932  XM_421792.4  XP_421792.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    82(a)
    75(a)
    many → 1
    many → 1
    AAWZ02041012(3412-6185)
    3(66204153-66257764)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia 1420155872   -- 73.59(n)    142015587 
    zebrafish
    (Danio rerio)
    Actinopterygii inpp5f1 inositol polyphosphate-5-phosphatase F 68.85(n)
    74.55(a)
      570007  NM_001126432.1  NP_001119904.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG79561 CG7956 48.53(n)
    42.02(a)
      42545  NM_001170204.2  NP_001163675.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_W09C5.71 CELE_W09C5.7 48.05(n)
    38.68(a)
      173236  NM_001265277.1  NP_001252206.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SAC16
    Phosphatidylinositol phosphate (PtdInsP) phosphata...
    28(a)
    1 → many
    XI(34543-36414) YKL212W


    ENSEMBL Gene Tree for INPP5F (if available)
    TreeFam Gene Tree for INPP5F (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for INPP5F gene
    SACM1L2  

    INPP5F for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for INPP5F
    PGOHUM00000240417


    (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 INPP5F (see all 2074)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1137641051,2
    F--121483582(+) TGATGG/ACATTA 2 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1403961181,2
    C--121483697(+) ATCTG-/GGGA  
            
    GCTTA
    2 -- us2k10--------
    rs1890641421,2
    --121483704(+) GAGCTC/TAGAAA 2 -- us2k10--------
    rs1161391771,2
    C,F--121483799(+) AATTCC/TCCAGG 2 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1928468901,2
    --121483821(+) GGCAGC/TCAGGG 2 -- us2k10--------
    rs1472951851,2
    --121483892(+) ACAGTC/TACAAC 2 -- us2k10--------
    rs1962121,2
    C,F,H--121484123(+) CACCTC/ACCTCG 2 -- us2k1 tfbs325Minor allele frequency- A:0.36NS EA NA WA CSA 2707
    rs37586151,2
    C--121484134(+) ACCTTC/TATGTT 2 -- us2k14Minor allele frequency- T:0.45NA WA EA 360
    rs37586161,2
    C,F,H--121484162(+) CAGAGG/ACATGG 2 -- us2k18Minor allele frequency- A:0.02NS EA NA 544
    rs792567891,2
    F--121484237(+) CTGTGG/CGCTGG 2 -- us2k11Minor allele frequency- C:0.01WA 118

    HapMap Linkage Disequilibrium report for INPP5F (121485609 - 121588659 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for INPP5F:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678096CNV Deletion23128226
    esv1309933CNV Deletion17803354
    nsv896044CNV Gain21882294
    nsv825585CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing INPP5F
    DNA2.0 Custom Variant and Variant Library Synthesis for INPP5F

    (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.)
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    OMIM gene information: 609389    OMIM disorders: --

    3 diseases for INPP5F:    
    About MalaCards
    alzheimer's disease    cerebritis    malaria


    INPP5F for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): INPP5F
    Human Genome Epidemiology (HuGE) Navigator: INPP5F (1 document)

    Export disorders for INPP5F 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 INPP5F gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with INPP5F)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a sac domain-containing phosphoinositide 5-phosphatase. (PubMed id 11274189)1, 2, 3, 9 Minagawa T.... Takenawa T. (J. Biol. Chem. 2001)
    2. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1999)
    3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    6. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    7. Inpp5f is a polyphosphoinositide phosphatase that regulates cardiac hypertrophic responsiveness. (PubMed id 19875726)1 Zhu W....Epstein J.A. (Circ. Res. 2009)
    8. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)
    9. A genome-wide short hairpin RNA screening of jurkat T-cells for human proteins contributing to productive HIV-1 replication. (PubMed id 19460752)1 Yeung M.L....Jeang K.T. (J. Biol. Chem. 2009)
    10. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 22876 HGNC: 17054 AceView: INPP5F Ensembl:ENSG00000198825 euGenes: HUgn22876
    ECgene: INPP5F H-InvDB: INPP5F

    (According to HUGE)
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    HUGE: KIAA0966

    (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 INPP5F 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 INPP5F gene:
    Search GeneIP for patents involving INPP5F

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



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