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

FIG4 Gene

protein-coding   GIFtS: 62
GCID: GC06P110012

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

(Previous names: KIAA0274, FIG4 homolog (S. cerevisiae))
(Previous symbol: KIAA0274)
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)
About This Section

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
FIG4 Homolog (S. Cerevisiae)1     EC 3.1.38
CMT4J2     EC 3.1.3.368
YVS2     

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

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 amyotrophic lateral sclerosis type 11, and pulsating exophthalmos, and among its related super-pathways are Synthesis of PIPs at the plasma membrane and Metabolism. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_025741.15  NC_018917.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for FIG4

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

UniProtKB/Swiss-Prot: 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
Subcellular location: Endosome membrane. Note=Localization requires VAC14 and PIKFYVE
Sequence caution: Sequence=BAA13403.2; Type=Erroneous initiation;
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92562

  • 2 DME Specific Peptides for FIG4 (Q92562)
     TLIARRS  DCLDRTN 

    FIG4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FIG4 Protein Expression
    REFSEQ proteins: NP_055660.1  
    ENSEMBL proteins: 
     ENSP00000230124   ENSP00000412156   ENSP00000357937   ENSP00000405660   ENSP00000396566  
     ENSP00000399443  
    Reactome Protein details: Q92562
    Human Recombinant Protein Products for FIG4: 
    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 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    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--

    FIG4 for ontologies           About GeneDecksing



    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
    GenScript Custom Superior Antibodies 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 

    Assay Products for FIG4: 
    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


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    FIG4 for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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): 5/6 molecular function terms (GO ID links to tree view) (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--
         
    FIG4 for ontologies           About GeneDecksing


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

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

    FIG4 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FIG4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FIG4
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate FIG4
    SwitchGear 3'UTR luciferase reporter plasmidFIG4 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for FIG4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FIG4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for FIG4
    Sirion Biotech Customized adenovirus for overexpression of FIG4

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for FIG4 (see all 7)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of FIG4 
                         Customized lentivirus expression plasmids for stable overexpression of FIG4 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for FIG4
    Search LifeMap BioReagents cell lines for FIG4
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FIG4


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for FIG4 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1PI Metabolism
    PI Metabolism0.66
    3-phosphoinositide biosynthesis0.48
    2Phospholipid metabolism
    Metabolism of lipids and lipoproteins1.00
    Synthesis of PIPs at the Golgi membrane1.00
    Metabolism1.00
    PI Metabolism1.00
    Synthesis of PIPs at the late endosome membrane1.00
    Synthesis of PIPs at the early endosome membrane1.00
    Phospholipid metabolism1.00
    3Synthesis of PIPs at the early endosome membrane
    Synthesis of PIPs at the early endosome membrane0.64
    Synthesis of PIPs at the Golgi membrane0.36
    Synthesis of PIPs at the late endosome membrane0.64
    4Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    5Glycerophospholipid biosynthesis
    Phospholipid metabolism0.64

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    5/14        Reactome Pathways for FIG4 (see all 14)
        Metabolism
    PI Metabolism
    Metabolism
    Phospholipid metabolism
    Synthesis of PIPs at the Golgi membrane



    FIG4 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FIG4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/19 Interacting proteins for FIG4 (Q925622, 3 ENSP000002301244) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    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): 5/13 biological process terms (GO ID links to tree view) (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--

    FIG4 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for FIG4

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FIG4
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate FIG4
    SwitchGear 3'UTR luciferase reporter plasmidFIG4 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for FIG4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FIG4
    Clone
    Products:
         
    OriGene clones in human, mouse for FIG4 (see all 7)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of FIG4 
                         Customized lentivirus expression plasmids for stable overexpression of FIG4 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for FIG4
    OriGene qSTAR qPCR primer pairs in human, mouse for FIG4
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FIG4
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FIG4
      QIAGEN 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 

    24/161 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™, 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

    FIG4 expression in normal human tissues (normalized intensities)      FIG4 embryonic expression: see
    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 
     5/2 selected tissues (see all 2) fully expand
     
     Primitive Streak (Early Embryonic Tissues)
             Notochord
     
     Cartilage (Muscoskeletal System)
             Intervertebral Disc Nucleus Pulposus Cells Lumbar Intervertebral Disc

    See FIG4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FIG4

    SOURCE GeneReport for Unigene cluster: Hs.529959
        SABiosciences 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
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FIG4
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FIG4
    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for FIG4 gene from 8/20 species (see all 20)    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 80.23(n)
    89.83(a)
      421762  NM_001114623.1  NP_001108095.1 
    lizard
    (Anolis carolinensis)
    Reptilia FIG46
    Uncharacterized protein
    90(a)
    1 ↔ 1
    1(191256604-191325261)
    zebrafish
    (Danio rerio)
    Actinopterygii fig41 FIG4 homolog, SAC1 lipid phosphatase domain containing more 68.04(n)
    74.66(a)
      100334605  XM_002667219.2  XP_002667265.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG178401 CG17840 49.42(n)
    44.86(a)
      33658  NM_134997.3  NP_608841.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C34B7.21 Protein C34B7.2 47.71(n)
    37.68(a)
      172620  NM_059865.3  NP_492266.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FIG4(YNL325C)4
    FIG41
    Phosphatidylinositol 3,5-bisphosphate (PtdIns[3,5]P) more4
    Fig4p1
    52.84(n)1
    44.98(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
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2735 SNPs in FIG4 are shown (see all 2735)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0548324
    Amyotrophic lateral sclerosis 11 (ALS11)4--see VAR_0548322 D Y mis40--------
    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
    rs1219082881,2
    Cpathogenic1110054526(+) TCTTGA/C/TGAATG 2 R * stg10--------
    VAR_0548364
    ----see VAR_0548362 I T mis40--------
    VAR_0548344
    ----see VAR_0548342 I V mis40--------
    VAR_0548334
    ----see VAR_0548332 R G mis40--------
    VAR_0548354
    ----see VAR_0548352 Y C mis40--------
    VAR_0548314
    ----see VAR_0548312 D G mis40--------
    rs716841001,2
    C--107585277(+) ATCAA-/T/TT  
            
    TTTTT
    1 -- int11CSA 2
    rs2010126761,2
    C--107585277(+) ATCAA-/TTTTTTT 1 -- int10--------

    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609390   
    OMIM disorders: 611228  612577  
    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

  • 20 diseases for FIG4:    About MalaCards
    amyotrophic lateral sclerosis type 11    pulsating exophthalmos    charcot-marie-tooth neuropathy type 4j    exophthalmos
    lateral sclerosis    fig4-related amyotrophic lateral sclerosis    cavernous sinus thrombosis    charcot-marie-tooth neuropathy type 4
    charcot-marie-tooth disease type 4    amyotrophic lateral sclerosis    charcot-marie-tooth disease    tooth disease
    charcot-marie-tooth neuropathy    axonal neuropathy    sinusitis    tremor
    neuropathy    paralysis    thrombosis    neuronitis

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

    FIG4 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    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

    PubMed articles for FIG4 gene, integrated from 9 sources (see all 26):
    (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. (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. (1996)
    3. A genome-wide meta-analysis identifies 22 loci associ ated with eight hematological parameters in the HaemGen consortium. (PubMed id 19820697)1, 4 Soranzo N....Gieger C. (2009)
    4. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (2009)
    5. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. (PubMed id 19118816)1, 2 Chow C.Y.... Meisler M.H. (2009)
    6. 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. (2008)
    7. 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. (2007)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    10. Identification and characterization of a sac domain-containing phosphoinositide 5-phosphatase. (PubMed id 11274189)1, 3 Minagawa T.... Takenawa T. (2001)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9896 HGNC: 16873 AceView: KIAA0274 Ensembl:ENSG00000112367 euGenes: HUgn9896
    ECgene: FIG4 H-InvDB: FIG4

    (According to HUGE)
    About This Section
    HUGE: KIAA0274

    (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 FIG4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for 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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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