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

FIG4 Gene

protein-coding   GIFtS: 60
GCID: GC06P110012

FIG4 homolog, SAC1 lipid phosphatase domain containing (S....

(Previous names: KIAA0274, FIG4 homolog (S. cerevisiae) )
(Previous symbol: KIAA0274)
 Explore 19 diseases affiliated with
FIG4 via
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 Human Malady Compendium 
Biological research products
for FIG4    

Aliases
for FIG4 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
FIG4 Homolog, SAC1 Lipid Phosphatase Domain Containing (S. Cerevisiae)1 2     HSac31
KIAA02741 2 3 5     FIG4 Homolog, SAC Domain Containing Lipid Phosphatase2
SAC31 2 3 5     FIG4 Homolog, SAC1 Domain Containing Lipid Phosphatase2
ALS111 2 5     Polyphosphoinositide Phosphatase2
CMT4J1 2     Sac Domain-Containing Inositol Phosphatase 32
DJ249I4.11     EC 3.1.3.-3
Phosphatidylinositol 3,5-Bisphosphate 5-Phosphatase2 3     EC 3.1.38
SAC Domain-Containing Protein 32 3     EC 3.1.3.368
FIG4 Homolog (S. Cerevisiae)1     

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


Summaries
for FIG4 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for FIG4:
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)

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)


Genomic Views
for 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
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 plasmid: FIG4 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

Proteins
for FIG4 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q92562

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

    FIG4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055660.1  
    ENSEMBL proteins: 
     ENSP00000230124   ENSP00000412156   ENSP00000357937   ENSP00000405660   ENSP00000396566  
     ENSP00000399443  
    Reactome Protein details: Q92562
    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: FIG4
    OriGene Protein Over-expression Lysate: 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 ProSpec Recombinant Proteins
    Uscn Proteins for FIG4

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005783endoplasmic reticulum ----
    GO:0005794Golgi apparatus ----
    GO:0010008endosome membrane IDA17556371
    GO:0031901early 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: FIG4
    OriGene Custom Antibody Services for FIG4 
    GenScript Custom Superior Antibodies Services for FIG4
    Novus Biologicals FIG4 Antibody
    Abcam antibodies for FIG4 
    Uscn Antibodies for FIG4
    ThermoFisher Antibodies for FIG4

    Assay Products for FIG4: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for FIG4
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for FIG4

    Protein Domains /
    Families
    for FIG4 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FIG4 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002013 Syja_N

    Graphical View of Domain Structure for InterPro Entry Q92562

    ProtoNet protein and cluster: Q92562

    1 Blocks protein family: IPB002013 Synaptojanin

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


    Function
    for FIG4 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: FIG4
    Browse MicroRNA Expression Plasmids
    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 plasmid: FIG4 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FIG4 (see all 4)
    OriGene shRNA RFP: FIG4
    OriGene siRNA: FIG4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FIG4

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FIG4 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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
    Search LifeMap BioReagents cell lines for FIG4

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FIG4

    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:0017120polyphosphatidylinositol phosphatase activity ----
    GO:0042578phosphoric ester hydrolase activity ----
    GO:0043812phosphatidylinositol-4-phosphate phosphatase activity IEA--


    FIG4 for ontologies           About GeneDecksing


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

    Animal Models:
         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


    Pathways & Interactions
    for FIG4 gene

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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Synthesis of PIPs at the Golgi membrane
    		Synthesis of PIPs at the Golgi membrane1.00
    		Synthesis of PIPs at the late endosome membrane0.20
    		Metabolism of lipids and lipoproteins1.00
    		Synthesis of PIPs at the early endosome membrane0.15
    		PI Metabolism1.00
    		Synthesis of PIPs at the Golgi membrane0.12
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    3PI Metabolism
    		PI Metabolism1.00
    		3-phosphoinositide biosynthesis0.48
    4Glycerophospholipid biosynthesis
    		Phospholipid metabolism0.64
    5Inositol phosphate metabolism
    		superpathway of inositol phosphate compounds0.59

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    5/10        Reactome Pathways for FIG4 (see all 10)
        PI Metabolism
    Metabolism
    Phospholipid metabolism
    Synthesis of PIPs at the Golgi membrane
    Synthesis of PIPs at the early endosome 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



    Drugs & Compounds
    for FIG4 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    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 

    Transcripts
    for FIG4 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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:             		 OriGene 3'-UTR Clone: FIG4
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: FIG4 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FIG4 (see all 4)
    OriGene shRNA RFP: FIG4
    OriGene siRNA: FIG4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FIG4
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FIG4 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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 genome-wide validated SYBR primer pairs in human, mouse, rat for FIG4
    Browse OriGene validated miRNA SYBR primer pairs
    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 cDNA 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):

    BM709652 NM_014845 BM995726 BI859069 BX097795 CB850665 CA437103 BX486626 
    AA970898 CD673374 BC041338 AW450139 CD518373 AI352681 AU123846 BM551463 
    CB160984 AW268655 AW450140 AI675390 AL540294 D87464 CD626225 CR624197 

    GeneLoc Exon Structure


    Expression
    for FIG4 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FIG4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TACCGAGAGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    FIG4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageLumbar Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
    Primitive StreakNotochordPrimitive Streak
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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 genome-wide validated SYBR primer pairs in human, mouse, rat for FIG4
    Browse OriGene validated miRNA SYBR primer pairs
    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
    for FIG4 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for FIG4 gene from 8/32 species (see all 32)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 89(a)
    		 1 ↔ 1
    		 1(191256908-191322381)
    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 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT3G142056
    AT3G432206
    (see all 5)    		 Phosphoinositide phosphatase family protein
    (see all 5)    		 30(a)
    30(a)
    (see all 5)    		 1 ↔ many
    1 ↔ many
    (see all 5)    		 3(4715707-4720951)
    3(15196863-15203062)
    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
    for FIG4 gene

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

    Genomic Variants
    for FIG4 gene

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

    10/2311 NCBI SNPs in FIG4 are shown (see all 2311)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219082881,2
    		C,pathogenic202623247(+) TCTTGA/C/TGAATG 3 R * syn1 stg10--------
    rs1219082871,2
    		C,F,pathogenic202643310(+) GAAGAT/CTGATA 2 /T /I mis12Minor allele frequency- C:0.00NA EU 5849
    rs735314211,2
    		C,--107576895(+) CTTCAT/CCCAAT 1 -- us2k13Minor allele frequency- C:0.05WA CSA 121
    rs9271281,2
    		C,F,H,--107576918(+) TTGGCG/AAATAA 1 -- us2k113Minor allele frequency- A:0.06NA NS EA WA 1152
    rs126648301,2
    		C,H--107577110(+) TCTTAG/AGATCT 1 -- us2k14Minor allele frequency- A:0.00NS EA 416
    rs735314251,2
    		C,--107578003(+) CTTTGC/TCATTT 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs77522321,2
    		H--107578191(+) ACTTCA/CAGTGG 1 -- us2k1 tfbs34Minor allele frequency- C:0.00NS EA 420
    rs49470121,2
    		C,F,H,--107578456(+) TTTCCA/GAAGAG 1 -- us2k1 trp313Minor allele frequency- G:0.04NS EA NA 2094
    rs558730831,2
    		C,F,--107578639(+) GGGGCG/AGGGCT 1 -- ut511Minor allele frequency- A:0.03NA 120
    rs755097521,2
    		F,--107578700(+) TTAGTG/ACCTAA 1 -- ut511Minor allele frequency- A:0.04WA 118

    HapMap Linkage Disequilibrium report for FIG4 (110012424 - 110146634 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FIG4: --
    Human Gene Mutation Database (HGMD): FIG4

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FIG4
    DNA2.0 Custom Variant and Variant Library Synthesis for FIG4

    Disorders / Diseases
    for FIG4 gene

    (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
    FIG4 for disorders           About GeneDecksing

    OMIM gene information: 609390   
    OMIM disorders: 611228  612577  
    UniProtKB/Swiss-Prot: FIG4_HUMAN, Q92562
  • Defects in FIG4 are the cause of Charcot-Marie-Tooth disease type 4J (CMT4J) [MIM:611228]. CMT4J is a
    • recessive demyelinating, severe form of Charcot-Marie-Tooth disease, the most common inherited disorder of the
    peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of
    electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by
    severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and
    remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic
    axonal degeneration and regeneration on nerve biopsy
  • Defects in FIG4 are the cause of amyotrophic lateral sclerosis type 11 (ALS11) [MIM:612577]. ALS is 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. Death usually occurs within 2 to 5 years.
    The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental
    factors. The disease is inherited in 5-10%

    19 diseases for FIG4:    About MalaCards
    charcot-marie-tooth disease type 4    charcot-marie-tooth disease    charcot-marie-tooth neuropathy    charcot-marie-tooth neuropathy type 4
    tooth disease    pulsating exophthalmos    amyotrophic lateral sclerosis type 11    amyotrophic lateral sclerosis
    cavernous sinus thrombosis    lateral sclerosis    exophthalmos    axonal neuropathy
    neuropathy    sinusitis    thrombosis    tremor
    neurodegeneration    malaria    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for FIG4:
    Charcot-Marie-Tooth disease     Amyotrophic lateral sclerosis
    GeneTests: FIG4
    Charcot-Marie-Tooth Neuropathy Type 4

    Human Genome Epidemiology (HuGE) Navigator: FIG4 (4 documents)

    Export disorders for FIG4 gene to outside databases

    Publications
    for FIG4 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FIG4 gene, integrated from 9 sources (see all 24):
    (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. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. (PubMed id 19118816)1, 2 Chow C.Y.... Meisler M.H. (2009)
    4. 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)
    5. 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)
    6. 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)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    8. Identification and characterization of a sac domain-containing phosphoinositide 5-phosphatase. (PubMed id 11274189)1, 3 Minagawa T.... Takenawa T. (2001)
    9. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)
    10. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)

    External Searches for FIG4 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing FIG4 gene

    (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

    Other Databases showing FIG4 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0274

    Specialized Databases showing FIG4 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FIG4 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for FIG4 gene

    (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



    Products
    for FIG4 gene

    (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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    Advanced Cell Diagnostics
    About This Section

     
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     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FIG4   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FIG4  
     OriGene Protein Over-expression Lysate for FIG4   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for FIG4   OriGene 3'-UTR Clone for FIG4  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FIG4   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FIG4  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for FIG4   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for FIG4   OriGene Custom Protein Services for FIG4  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FIG4
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FIG4
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FIG4
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     GenScript Custom Purified and Recombinant Proteins Services for FIG4 GenScript cDNA clones with any tag delivered in your preferred vector for FIG4
     GenScript Custom Assay Services for FIG4 GenScript Custom Superior Antibodies Services for FIG4
     GenScript Custom overexpressing Cell Line Services for FIG4 CloneReady with Over 120,000 Genes
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     Regulatory tfbs in FIG4 promoter
     Search Chromatin IP Primers for FIG4
     RT2 qPCR Primer Assay in human, mouse, rat FIG4
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     SABiosciences Custom PCR Arrays for FIG4
     Search Tocris compounds for FIG4
     Browse Sino Biological Proteins and Antibodies
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     Novus Tissue Slides
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     FIG4 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for FIG4
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FIG4
     SwitchGear 3'UTR luciferase reporter plasmids for FIG4
     SwitchGear Promoter luciferase reporter plasmids for FIG4
     ThermoFisher Antibodies for FIG4
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FIG4
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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