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FIG4 Gene

protein-coding   GIFtS: 63
GCID: GC06P110012

FIG4 Homolog, SAC1 Lipid Phosphatase Domain Containing (S....

(Previous names: KIAA0274, FIG4 homolog (S. cerevisiae))
(Previous symbol: KIAA0274)
  See FIG4-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
FIG4 Homolog, SAC1 Lipid Phosphatase Domain Containing (S.
Cerevisiae)1 2
     dJ249I4.12
KIAA02741 2 3 5     FIG4 Homolog, SAC Domain Containing Lipid Phosphatase2
SAC32 3 5     FIG4 Homolog, SAC1 Domain Containing Lipid Phosphatase2
Phosphatidylinositol 3,5-Bisphosphate 5-Phosphatase2 3     Polyphosphoinositide Phosphatase2
SAC Domain-Containing Protein 32 3     Sac Domain-Containing Inositol Phosphatase 32
ALS112 5     EC 3.1.3.-3
YVS2 5     EC 3.1.38
FIG4 Homolog (S. Cerevisiae)1     EC 3.1.3.368
CMT4J2     

External Ids:    HGNC: 168731   Entrez Gene: 98962   Ensembl: ENSG000001123677   OMIM: 6093905   UniProtKB: Q925623   

Export aliases for FIG4 gene to outside databases

Previous GC identifers: GC06P110120 GC06P107578


(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 FIG4 Gene:
The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain,
approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess
phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various
phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi
function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules
and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with
Charcot-Marie-Tooth disease, type 4J. (provided by RefSeq, Jul 2008)

GeneCards Summary for FIG4 Gene:
FIG4 (FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)) is a protein-coding gene. Diseases associated with FIG4 include bilateral parasagittal parieto-occipital polymicrogyria, and charcot-marie-tooth neuropathy type 4j. GO annotations related to this gene include phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity and phosphatidylinositol-3-phosphatase activity.

UniProtKB/Swiss-Prot: FIG4_HUMAN, Q92562
Function: The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol
3,5-bisphosphate (PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide
substrates in the order PtdIns(4,5)P2 > PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis of
endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes

Gene Wiki entry for FIG4 (Fig4) 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_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FIG4 gene promoter:
         HOXA9   HOXA9B   Sp1   Meis-1b   c-Myb   Meis-1a   NF-Y   Meis-1   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFIG4 promoter sequence
   Search Chromatin IP Primers for FIG4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FIG4


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

Entrez Gene cytogenetic band: 6q21   Ensembl cytogenetic band:  6q21   HGNC cytogenetic band: 6q21

FIG4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FIG4 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P110012:  view genomic region     (about GC identifiers)

Start:
110,012,424 bp from pter      End:
110,146,634 bp from pter
Size:
134,211 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FIG4_HUMAN, Q92562 (See protein sequence)
Recommended Name: Polyphosphoinositide phosphatase  
Size: 907 amino acids; 103635 Da
Subunit: Component of the PI(3,5)P2 regulatory complex/PAS complex, at least composed of PIKFYVE, FIG4 and VAC14.
VAC14 nucleates the assembly of the complex and serves as a scaffold
Sequence caution: Sequence=BAA13403.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q53H49 Q5TCS6

Explore the universe of human proteins at neXtProt for FIG4: NX_Q92562

Explore proteomics data for FIG4 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys379
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for FIG4 (Q92562)
     TLIARRS  DCLDRTN 


    See FIG4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055660.1  
    ENSEMBL proteins: 
     ENSP00000230124   ENSP00000412156   ENSP00000357937   ENSP00000405660   ENSP00000396566  
     ENSP00000399443  
    Reactome Protein details: Q92562

    FIG4 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for FIG4
    OriGene Protein Over-expression Lysate for FIG4
    OriGene MassSpec for FIG4
    OriGene Custom Protein Services for FIG4
    GenScript Custom Purified and Recombinant Proteins Services for FIG4
    Novus Biologicals FIG4 Protein
    Novus Biologicals FIG4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FIG4

     
    Search eBioscience for Proteins for FIG4 

    FIG4 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for FIG4
    OriGene Custom Antibody Services for FIG4
    Novus Biologicals FIG4 Antibody
    Abcam antibodies for FIG4
    Cloud-Clone Corp. Antibodies for FIG4
    ThermoFisher Antibodies for FIG4
    LSBio Antibodies in human, mouse, rat for FIG4

    FIG4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for FIG4
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for FIG4
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for FIG4
    Cloud-Clone Corp. CLIAs for FIG4
    Search eBioscience for ELISAs for FIG4 


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

    Graphical View of Domain Structure for InterPro Entry Q92562

    ProtoNet protein and cluster: Q92562

    1 Blocks protein domain: IPB002013 Synaptojanin

    UniProtKB/Swiss-Prot: FIG4_HUMAN, Q92562
    Similarity: Contains 1 SAC domain


    Find genes that share domains with FIG4           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: FIG4_HUMAN, Q92562
    Function: The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol
    3,5-bisphosphate (PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide
    substrates in the order PtdIns(4,5)P2 > PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis of
    endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes

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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004438phosphatidylinositol-3-phosphatase activity IEA--
    GO:0005515protein binding IPI17556371
    GO:0034593phosphatidylinositol bisphosphate phosphatase activity ----
    GO:0042578phosphoric ester hydrolase activity ----
    GO:0043812phosphatidylinositol-4-phosphate phosphatase activity IEA--
         
    Find genes that share ontologies with FIG4           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for FIG4:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 

         13 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Fig4):
     behavior/neurological  cardiovascular system  craniofacial  growth/size/body  hematopoietic system 
     immune system  integument  limbs/digits/tail  mortality/aging  muscle 
     nervous system  pigmentation  skeleton 

    Find genes that share phenotypes with FIG4           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FIG4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FIG4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FIG4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FIG4

    miRNA
    Products:
        
    miRTarBase miRNAs that target FIG4:
    hsa-mir-26b-5p (MIRT030214), hsa-mir-335-5p (MIRT019027), hsa-mir-1 (MIRT024087)

    Block miRNA regulation of human, mouse, rat FIG4 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate FIG4
    SwitchGear 3'UTR luciferase reporter plasmidFIG4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for FIG4
    Predesigned siRNA for gene silencing in human, mouse, rat FIG4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for FIG4

    Clone
    Products:
         
    OriGene clones in human, mouse for FIG4 (see all 6)
    OriGene ORF clones in mouse, rat for FIG4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FIG4 (NM_014845)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FIG4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FIG4

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for FIG4
    Browse ESI BIO Cell Lines and PureStem Progenitors for FIG4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FIG4


    (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
    FIG4_HUMAN, Q92562: Endosome membrane. Note=Localization requires VAC14 and PIKFYVE
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    golgi apparatus4
    cytosol2
    lysosome2
    nucleus2
    vacuole2
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0010008endosome membrane IDA17556371
    GO:0031901early endosome membrane TAS--
    GO:0031902late endosome membrane TAS--

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    (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 FIG4 About    
    See pathways by source

    SuperPathContained pathways About
    1PI Metabolism
    PI Metabolism0.65
    Synthesis of PIPs at the Golgi membrane0.00
    3-phosphoinositide biosynthesis0.47
    Synthesis of PIPs at the early endosome membrane0.00
    Synthesis of PIPs at the late endosome membrane0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3Glycerophospholipid biosynthesis
    Phospholipid metabolism0.64
    4Inositol phosphate metabolism (KEGG)
    superpathway of inositol phosphate compounds0.60


    Find genes that share SuperPaths with FIG4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for FIG4
        3-phosphoinositide biosynthesis
    superpathway of inositol phosphate compounds

    3 Reactome Pathways for FIG4
        Synthesis of PIPs at the late endosome membrane
    Synthesis of PIPs at the early endosome membrane
    Synthesis of PIPs at the Golgi membrane


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FIG4
    Interactions:

        Search GeneGlobe Interaction Network for FIG4

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

    Selected Interacting proteins for FIG4 (Q925622, 3 ENSP000002301244) via UniProtKB, MINT, STRING, and/or I2D (see all 55)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VAC14Q08AM62, 3, ENSP000002617764MINT-7277770 I2D: score=6 STRING: ENSP00000261776
    WIPI1Q5MNZ93, ENSP000002621394I2D: score=1 STRING: ENSP00000262139
    PIKFYVEQ9Y2I73, ENSP000002643804I2D: score=2 STRING: ENSP00000264380
    SACM1LQ9NTJ53, ENSP000003737134I2D: score=1 STRING: ENSP00000373713
    ASF1AQ9Y2943I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0007033vacuole organization IEA--
    GO:0007626locomotory behavior IEA--
    GO:0008219cell death IEA--

    Find genes that share ontologies with FIG4           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 FIG4



    (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 FIG4 gene: 
    NM_014845.5  

    Unigene Cluster for FIG4:

    FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
    Hs.529959  [show with all ESTs]
    Unigene Representative Sequence: NM_014845
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000230124(uc003ptt.2) ENST00000454215 ENST00000368941 ENST00000415980
    ENST00000419951 ENST00000441478(uc011eau.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat FIG4 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate FIG4
    SwitchGear 3'UTR luciferase reporter plasmidFIG4 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for FIG4
    Predesigned siRNA for gene silencing in human, mouse, rat FIG4
    Clone
    Products:
         
    OriGene clones in human, mouse for FIG4 (see all 6)
    OriGene ORF clones in mouse, rat for FIG4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FIG4 (NM_014845)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FIG4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FIG4
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for FIG4
    OriGene qSTAR qPCR primer pairs in human, mouse for FIG4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FIG4
      QuantiTect SYBR Green Assays in human, mouse, rat FIG4
      QuantiFast Probe-based Assays in human, mouse, rat FIG4

    Additional mRNA sequence: 

    AK222732.1 AK291671.1 AK293422.1 BC041338.2 D87464.1 

    6 DOTS entries:

    DT.315436  DT.70102370  DT.86754437  DT.86837335  DT.87012847  DT.91984338 

    Selected AceView cDNA sequences (see all 161):

    AA970898 BM995726 BI859069 BX097795 CA435313 CB850665 BX486626 CA437103 
    CD673374 BI520379 BU734141 NM_014845 BM709652 BF902555 AL547153 AU131753 
    CD366932 CR624197 CD626225 D87464 AL540294 AI675390 AW450140 BM551463 

    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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    FIG4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACCGAGAGT
    FIG4 Expression
    About this image


    FIG4 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
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Intervertebral Disc Nucleus Pulposus Cells Nucleus Pulposus
             Nucleus Pulposus
     
     Primitive Streak (Early Embryonic Tissues)
             Notochord
    FIG4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FIG4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.529959
        Custom PCR Arrays for FIG4
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for FIG4
    OriGene qSTAR qPCR primer pairs in human, mouse for FIG4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FIG4
    QuantiTect SYBR Green Assays in human, mouse, rat FIG4
    QuantiFast Probe-based Assays in human, mouse, rat FIG4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FIG4

    (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 eukaryotes.

    Orthologs for FIG4 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fig41 , 5 FIG4 homolog (S. cerevisiae)1, 5 87.17(n)1
    95.15(a)1
      10 (22.08 cM)5
    1031991  NM_133999.11  NP_598760.11 
     411881725 
    chicken
    (Gallus gallus)
    Aves FIG41 FIG4 homolog, SAC1 lipid phosphatase domain containing more 79.66(n)
    89.25(a)
      421762  NM_001114623.1  NP_001108095.1 
    lizard
    (Anolis carolinensis)
    Reptilia FIG46
    FIG4 homolog, SAC1 lipid phosphatase domain contai...
    90(a)
    1 ↔ 1
    1(191256604-191325261)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fig41 FIG4 homolog, SAC1 lipid phosphatase domain containing 74.75(n)
    81.64(a)
      100379892  XM_004914860.1  XP_004914917.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fig41 FIG4 homolog, SAC1 lipid phosphatase domain containing more 67.95(n)
    74.32(a)
      100334605  XM_002667219.3  XP_002667265.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG178401 CG17840 50.51(n)
    46.96(a)
      33658  NM_134997.4  NP_608841.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C34B7.26
    Protein C34B7.2 (C34B7.2) mRNA, complete cds
    34(a)
    1 ↔ 1
    I(8336982-8341826) WBGene00007912
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FIG4(YNL325C)4
    FIG41
    Phosphatidylinositol 3,5-bisphosphate (PtdIns[3,5]P) more4
    FIG41
    52.63(n)1
    45.14(a)1
      14(31378-28739)4
    8553921, 4  NP_014074.11, 4 
    rice
    (Oryza sativa)
    Liliopsida AK070888.12   -- 75.31(n)    AK070888.1 


    ENSEMBL Gene Tree for FIG4 (if available)
    TreeFam Gene Tree for FIG4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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      --

    (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)
    About This Section

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    Selected SNPs for FIG4 (see all 2737)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219082871,2,,4
    C,FCharcot-Marie-Tooth disease 4J (CMT4J)4 pathogenic1110034464(+) GAAGAT/CTGATA 2 /T /I mis12Minor allele frequency- C:0.00NA EU 5849
    VAR_0548324
    Amyotrophic lateral sclerosis 11 (ALS11)4--see VAR_0548322 D Y mis40--------
    VAR_0700514
    Yunis-Varon syndrome (YVS)4--see VAR_0700512 G D mis40--------
    VAR_0700524
    Yunis-Varon syndrome (YVS)4--see VAR_0700522 L P mis40--------
    rs1219082881,2
    Cpathogenic1110054526(+) TCTTGA/C/TGAATG 2 R * stg10--------
    rs716841001,2
    C--107585277(+) ATCAA-/T/TT  
            
    TTTTT
    1 -- int11CSA 2
    rs2010126761,2
    C--107585277(+) ATCAA-/TTTTTTT 1 -- int10--------
    rs94810001,2
    --107640363(+) tttaaC/Tccatc 1 -- int10--------
    rs1124808681,2
    C,F--107640632(+) ATGCGG/TTGTTA 1 -- int11Minor allele frequency- T:0.50WA 2
    rs93868401,2
    C--107641366(+) tgagaG/Tagggc 1 -- int11Minor allele frequency- T:0.50NA 2

    HapMap Linkage Disequilibrium report for FIG4 (110012424 - 110146634 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for FIG4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv270954CNV Insertion20981092
    esv272669CNV Insertion20981092
    nsv5437CNV Insertion18451855
    nsv886533CNV Loss21882294
    nsv5436CNV Loss18451855
    nsv830769CNV Gain17160897

    Human Gene Mutation Database (HGMD): FIG4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FIG4
    DNA2.0 Custom Variant and Variant Library Synthesis for FIG4

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

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    OMIM gene information: 609390   
    OMIM disorders: 611228  612577  216340  
    UniProtKB/Swiss-Prot: FIG4_HUMAN, Q92562
  • Charcot-Marie-Tooth disease 4J (CMT4J) [MIM:611228]: A recessive demyelinating form of
    Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness
    and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth
    disease is classified in two main groups on the basis of electrophysiologic properties and histopathology:
    primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary
    peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve
    conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations
    on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow
    feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Amyotrophic lateral sclerosis 11 (ALS11) [MIM:612577]: A neurodegenerative disorder affecting upper motor
    neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis.
    Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal
    tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and
    deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be
    multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Yunis-Varon syndrome (YVS) [MIM:216340]: A severe autosomal recessive disorder characterized by skeletal
    defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal
    loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal
    in infancy. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 8 diseases for FIG4:    
    About MalaCards
    bilateral parasagittal parieto-occipital polymicrogyria    charcot-marie-tooth neuropathy type 4j    amyotrophic lateral sclerosis type 11    lateral sclerosis
    yunis varon syndrome    fig4-related amyotrophic lateral sclerosis    charcot-marie-tooth neuropathy type 4    amyotrophic lateral sclerosis

    2 diseases from the University of Copenhagen DISEASES database for FIG4:
    Neuropathy     Myopathy

    Find genes that share disorders with FIG4           About GenesLikeMe

    GeneTests: FIG4
    GeneReviews: FIG4
    Genetic Association Database (GAD): FIG4
    Human Genome Epidemiology (HuGE) Navigator: FIG4 (4 documents)

    Export disorders for FIG4 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

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    PubMed articles for FIG4 gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with FIG4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. (PubMed id 17572665)1, 2, 3 Chow C.Y....Meisler M.H. (Nature 2007)
    2. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PubMed id 9039502)1, 2, 3 Nagase T.... Nomura N. (DNA Res. 1996)
    3. Yunis-VarA^n syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. (PubMed id 23623387)1, 2 Campeau P.M....Lee B.H. (Am. J. Hum. Genet. 2013)
    4. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. (PubMed id 19820697)1, 4 Soranzo N....Gieger C. (Nat. Genet. 2009)
    5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    6. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. (PubMed id 19118816)1, 2 Chow C.Y.... Meisler M.H. (Am. J. Hum. Genet. 2009)
    7. ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionality. (PubMed id 18950639)1, 2 Sbrissa D.... Shisheva A. (J. Mol. Biol. 2008)
    8. Core protein machinery for mammalian phosphatidylinositol 3,5- bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex. (PubMed id 17556371)1, 2 Sbrissa D....Shisheva A. (J. Biol. Chem. 2007)
    9. 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. (Genome Res. 2004)
    10. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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     ANDOR
    Aliases
    Disorders
    Free Text  

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 9896 HGNC: 16873 AceView: KIAA0274 Ensembl:ENSG00000112367 euGenes: HUgn9896
    ECgene: FIG4 H-InvDB: FIG4

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA0274

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for FIG4 Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for FIG4 gene:
    Search GeneIP for patents involving FIG4

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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