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MTMR4 Gene

protein-coding   GIFtS: 64
GCID: GC17M056566

Myotubularin Related Protein 4

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Myotubularin Related Protein 41 2     EC 3.1.3.483 8
Zinc Finger FYVE Domain-Containing Protein 112 3     Myotubularin-Related Protein 42
FYVE-DSP22 3     Zinc Finger, FYVE Domain Containing 112
ZFYVE112 3     KIAA06473
FYVE Domain-Containing Dual Specificity Protein Phosphatase 22 3     

External Ids:    HGNC: 74521   Entrez Gene: 91102   Ensembl: ENSG000001083897   OMIM: 6035595   UniProtKB: Q9NYA43   

Export aliases for MTMR4 gene to outside databases

Previous GC identifers: GC17M056311 GC17M059048 GC17M056908 GC17M057041 GC17M053921 GC17M051927


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MTMR4 Gene:
MTMR4 (myotubularin related protein 4) is a protein-coding gene. Diseases associated with MTMR4 include mulibrey nanism, and myopathy. GO annotations related to this gene include protein tyrosine phosphatase activity and protein serine/threonine phosphatase activity. An important paralog of this gene is MTMR7.

UniProtKB/Swiss-Prot: MTMR4_HUMAN, Q9NYA4
Function: Dephosphorylates proteins phosphorylated on Ser, Thr, and Tyr residues and low molecular weight
phosphatase substrate para-nitrophenylphosphate. Phosphorylates phosphatidylinositol 3,4,5-trisphosphate (PIP3)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MTMR4 gene promoter:
         E2F-4   E2F-3a   E2F-5   Lmo2   E2F-2   C/EBPalpha   CREB   E2F   E2F-1   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTMR4 promoter sequence
   Search Chromatin IP Primers for MTMR4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MTMR4


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

Entrez Gene cytogenetic band: 17q22-q23   Ensembl cytogenetic band:  17q22   HGNC cytogenetic band: 17q22-q23

MTMR4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTMR4 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M056566:  view genomic region     (about GC identifiers)

Start:
56,566,893 bp from pter      End:
56,595,266 bp from pter
Size:
28,374 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MTMR4_HUMAN, Q9NYA4 (See protein sequence)
Recommended Name: Myotubularin-related protein 4  
Size: 1195 amino acids; 133353 Da
Developmental stage: Expressed in fetal brain and fetal liver
Secondary accessions: D3DTZ6 Q8IV27 Q9Y4D5

Explore the universe of human proteins at neXtProt for MTMR4: NX_Q9NYA4

Explore proteomics data for MTMR4 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys202, Lys257
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for MTMR4 (Q9NYA4)
     FMGMANIH  HCSDGWDRT  PQKLLILDARSY 


    See MTMR4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004678.3  
    ENSEMBL proteins: 
     ENSP00000464067   ENSP00000325285   ENSP00000464247   ENSP00000463479   ENSP00000462869  
     ENSP00000463259   ENSP00000464588  
    Reactome Protein details: Q9NYA4

    MTMR4 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for MTMR4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZFYVE: Zinc fingers, FYVE domain containing
    DUSPM: Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins

    Selected InterPro protein domains (see all 8):
     IPR017906 Myotubularin_phosphatase_dom
     IPR010569 Myotubularin-like_Pase_dom
     IPR016130 Tyr_Pase_AS
     IPR000306 Znf_FYVE
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q9NYA4

    ProtoNet protein and cluster: Q9NYA4

    2 Blocks protein domains:
    IPB000306 Zn-finger
    IPB010569 Myotubularin-related


    UniProtKB/Swiss-Prot: MTMR4_HUMAN, Q9NYA4
    Similarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily
    Similarity: Contains 1 FYVE-type zinc finger
    Similarity: Contains 1 myotubularin phosphatase domain


    MTMR4 for domains           About GeneDecksing


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

         UniProtKB/Swiss-Prot Summary: MTMR4_HUMAN, Q9NYA4
    Function: Dephosphorylates proteins phosphorylated on Ser, Thr, and Tyr residues and low molecular weight
    phosphatase substrate para-nitrophenylphosphate. Phosphorylates phosphatidylinositol 3,4,5-trisphosphate (PIP3)
    Catalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate

         Genatlas biochemistry entry for MTMR4:
    myotubularin related protein 4 ,expressed in brain,related to KIAA0371 putative hyposine phosphatase family

         Enzyme Number (IUBMB): EC 3.1.3.481 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004722protein serine/threonine phosphatase activity TAS--
    GO:0004725protein tyrosine phosphatase activity IEA--
    GO:0005515protein binding IPI--
    GO:0016791phosphatase activity ----
    GO:0046872metal ion binding IEA--
         
    MTMR4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MTMR4:
     Decreased focal adhesion (FA)  

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MTMR4
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    miRNA
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    miRTarBase miRNAs that target MTMR4:
    hsa-mir-130b-3p (MIRT020319), hsa-mir-103a-3p (MIRT027212), hsa-mir-125b-5p (MIRT046004), hsa-mir-193b-3p (MIRT041608)

    Block miRNA regulation of human, mouse, rat MTMR4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MTMR4 (see all 38):
    hsa-miR-124* hsa-miR-136 hsa-miR-3152-3p hsa-miR-15a hsa-miR-29a hsa-miR-128 hsa-miR-765 hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidMTMR4 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MTMR4

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: MTMR4 (NM_004687)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTMR4

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTMR4


    (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
    MTMR4_HUMAN, Q9NYA4: Cytoplasm. Membrane; Peripheral membrane protein. Note=Localized to perinuclear region
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    endosome4
    cytoskeleton1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005829cytosol TAS--
    GO:0031901early endosome membrane TAS--

    MTMR4 for ontologies           About GeneDecksing


    (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 MTMR4 About   (see all 7)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Loss of Function of SMAD2/3 in Cancer
    Loss of Function of SMAD2/3 in Cancer0.60
    TGFBR1 KD Mutants in Cancer0.60
    Loss of Function of SMAD4 in Cancer0.60
    SMAD2/3 MH2 Domain Mutants in Cancer0.60
    TGFBR2 MSI Frameshift Mutants in Cancer0.60
    SMAD2/3 Phosphorylation Motif Mutants in Cancer0.60
    Signaling by TGF-beta Receptor Complex in Cancer0.60
    SMAD4 MH2 Domain Mutants in Cancer0.60
    2PI Metabolism
    PI Metabolism0.65
    Synthesis of PIPs at the early endosome membrane0.00
    Synthesis of PIPs at the late endosome membrane0.00
    3TGF-beta receptor signaling activates SMADs
    Downregulation of TGF-beta receptor signaling0.82
    TGF-beta receptor signaling activates SMADs0.82
    4Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    5Glycerophospholipid biosynthesis
    Phospholipid metabolism0.64

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Reactome Pathways for MTMR4
        Synthesis of PIPs at the late endosome membrane
    Downregulation of TGF-beta receptor signaling
    Synthesis of PIPs at the early endosome membrane



    MTMR4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MTMR4
    Interactions:

        Search GeneGlobe Interaction Network for MTMR4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for MTMR4 (Q9NYA41, 2, 3 ENSP000003252854) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840221, 2, 3, ENSP000003329734EBI-1052346,EBI-347161 MINT-8290861 MINT-8290820 MINT-8290851 MINT-8290872 I2D: score=1 STRING: ENSP00000332973
    SMAD2Q157961, 2, 3, ENSP000002621604EBI-1052346,EBI-1040141 MINT-8290813 MINT-8290882 MINT-8290840 I2D: score=1 STRING: ENSP00000262160
    HIPK3Q9H4222, 3MINT-61741 I2D: score=3 
    NEDD4P469343, ENSP000003455304I2D: score=1 STRING: ENSP00000345530
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
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    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006470protein dephosphorylation TAS9736772
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0007179transforming growth factor beta receptor signaling pathway TAS--
    GO:0014894response to denervation involved in regulation of muscle adaptation IEA--

    MTMR4 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for MTMR4

    1 HMDB Compound for MTMR4    About this table
    CompoundSynonyms CAS #PubMed Ids
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MTMR4 gene: 
    NM_004687.4  

    Unigene Cluster for MTMR4:

    Myotubularin related protein 4
    Hs.514373  [show with all ESTs]
    Unigene Representative Sequence: NM_004687
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000579925 ENST00000323456(uc002iwj.2) ENST00000578259 ENST00000580983
    ENST00000582663 ENST00000583966 ENST00000583656 ENST00000582390(uc010dcx.1)
    ENST00000579921 ENST00000583243
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MTMR4 (see all 38):
    hsa-miR-124* hsa-miR-136 hsa-miR-3152-3p hsa-miR-15a hsa-miR-29a hsa-miR-128 hsa-miR-765 hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidMTMR4 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat MTMR4

    Additional mRNA sequence: 

    AB014547.2 AF264717.1 AK308877.1 BC035609.1 

    14 DOTS entries:

    DT.444297  DT.91751412  DT.120975244  DT.75119836  DT.100682219  DT.102822337  DT.91751395  DT.97766551 
    DT.100783201  DT.102822338  DT.86846464  DT.91712526  DT.95171953  DT.95112364 

    Selected AceView cDNA sequences (see all 271):

    BF059579 AI753511 AI091664 BF059645 BP371957 BE891079 AW902006 T30116 
    AA360931 BU158289 AI652987 AL042220 BF589239 BE041345 BM454531 BF115169 
    CD557325 AW104599 BU556666 BF942418 AI051833 CB216373 BF431832 BF059644 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MTMR4 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a ·
    SP1:                                                  -                             -                                                           -               
    SP2:                                                  -                                                                                                         
    SP3:                                      -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -   
    SP4:                                                                                                                                                            
    SP5:                                                  -                                                                                                         

    ExUns: 19b · 19c · 19d
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for MTMR4

    (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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    MTMR4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAATGTGCTG
    MTMR4 Expression
    About this image

    MTMR4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MTMR4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.514373

    UniProtKB/Swiss-Prot: MTMR4_HUMAN, Q9NYA4
    Tissue specificity: Expressed in brain, heart, kidney, spleen, liver, colon, testis, muscle, placenta, thyroid
    gland, pancreas, ovary, prostate, skin, peripheral blood, and bone marrow

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    QuantiFast Probe-based Assays in human, mouse, rat MTMR4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTMR4

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

    Orthologs for MTMR4 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mtmr41 , 5 myotubularin related protein 41, 5 89.32(n)1
    91.76(a)1
      11 (52.15 cM)5
    1707491  NM_133215.11  NP_573478.11 
     875921625 
    chicken
    (Gallus gallus)
    Aves MTMR41 myotubularin related protein 4 73.22(n)
    78.39(a)
      417472  XM_415720.4  XP_415720.3 
    lizard
    (Anolis carolinensis)
    Reptilia MTMR46
    myotubularin related protein 4
    88(a)
    1 ↔ 1
    GL344704.1(10438-23133)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC045024.12   -- 77.22(n)    BC045024.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc636452 hypothetical protein MGC63645 79.76(n)   393584  BC056794.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG36323 protein amino acid dephosphorylation
    protein tyrosine/serine/threonine
    more
    45(a)     --


    ENSEMBL Gene Tree for MTMR4 (if available)
    TreeFam Gene Tree for MTMR4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MTMR4 gene
    MTMR72  MTMR122  MTMR22  MTMR102  MTM12  MTMR82  MTMR32  MTMR62  
    SBF22  MTMR92  MTMR112  SBF12  MTMR12  
    9 SIMAP similar genes for MTMR4 using alignment to 7 protein entries:     MTMR4_HUMAN (see all proteins):
    MTMR3    MTMR10    MTMR6    MTM1    MTMR1    MTMR9
    MTMR2    MTMR8    WUGSC

    MTMR4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MTMR4 (see all 557)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1151985021,2
    C,F--56567764(+) AGATGA/GAAAAA 1 -- ut311Minor allele frequency- G:0.02WA 118
    rs1920908071,2
    --56567843(+) ACATGC/TTCTTT 1 -- ut310--------
    rs793080601,2
    --56568268(+) AAGAGC/GTGCCA 1 -- ut310--------
    rs1448836641,2
    C--56568331(+) AGGACC/TGAACA 1 -- ut310--------
    rs1841925781,2
    --56568410(+) CACCAA/GTGCTG 1 -- ut310--------
    rs1902467581,2
    --56568502(+) CTAATG/TCAACT 1 -- ut310--------
    rs1811669101,2
    --56568597(+) AATTCC/TTACCT 1 -- ut310--------
    rs30877621,2
    C,F,H--56568680(+) ATATGC/TCTTTC 1 -- ut31 ese315Minor allele frequency- T:0.21MN NS EA NA WA 1210
    rs1849371061,2
    --56568719(+) GCAACA/GTCTAC 1 -- ut310--------
    rs1891088121,2
    --56568846(+) TAGAGA/GACCTC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for MTMR4 (56566893 - 56595266 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MTMR4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv908641CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MTMR4
    DNA2.0 Custom Variant and Variant Library Synthesis for MTMR4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603559    OMIM disorders: --

    4 diseases for MTMR4:    
    About MalaCards
    mulibrey nanism    myopathy    thyroiditis    prostatitis


    MTMR4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MTMR4
    Human Genome Epidemiology (HuGE) Navigator: MTMR4 (1 document)

    Export disorders for MTMR4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MTMR4 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with MTMR4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Phosphoinositide cycle gene polymorphisms affect the plasma lipid profile in the Quebec Family Study. (PubMed id 19329342)1, 4, 9 Dolley G....Vohl M.C. (Mol. Genet. Metab. 2009)
    2. Genome-wide association scan for childhood caries implicates novel genes. (PubMed id 21940522)1, 4 Shaffer J.R....Marazita M.L. (J. Dent. Res. 2011)
    3. FYVE-DSP2, a FYVE domain-containing dual specificity protein phosphatase that dephosphorylates phosphatidylinositol 3-phosphate. (PubMed id 11302699)1, 2 Zhao R.... Zhao Z.J. (Exp. Cell Res. 2001)
    4. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. (PubMed id 9736772)1, 3 Laporte J....Mandel J.-L. (Hum. Mol. Genet. 1998)
    5. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2 Ishikawa K.... Ohara O. (DNA Res. 1998)
    6. MTMR4 attenuates transforming growth factor beta (TGFbeta) signaling by dephosphorylating R-Smads in endosomes. (PubMed id 20061380)1, 9 Yu J....Tang H. (J. Biol. Chem. 2010)
    7. The inositol phosphatase MTMR4 is a novel target of the ubiquitin ligase Nedd4. (PubMed id 19125695)1, 9 Plant P.J....Batt J. (Biochem. J. 2009)
    8. Myotubularin-related protein 4 (MTMR4) attenuates BMP/Dpp signaling by dephosphorylation of Smad proteins. (PubMed id 23150675)1 Yu J....Tang H. (J. Biol. Chem. 2013)
    9. The myotubularin phosphatase MTMR4 regulates sorting from early endosomes. (PubMed id 20736309)1 Naughtin M.J....Mitchell C.A. (J. Cell. Sci. 2010)
    10. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9110 HGNC: 7452 AceView: MTMR4 Ensembl:ENSG00000108389 euGenes: HUgn9110
    ECgene: MTMR4 H-InvDB: MTMR4

    (According to HUGE)
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    HUGE: KIAA0647

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MTMR4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MTMR4 gene:
    Search GeneIP for patents involving MTMR4

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



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