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MTMR3 Gene

protein-coding   GIFtS: 64
GCID: GC22P030279

Myotubularin Related Protein 3

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(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 31 2     EC 3.1.3.483 8
Zinc Finger FYVE Domain-Containing Protein 102 3     FYVE (Fab1 YGLO23 Vsp27 EEA1 Domain) Dual-Specificity Protein Phosphatase2
FYVE-DSP12 3     Myotubularin-Related Protein 32
ZFYVE102 3     Zinc Finger, FYVE Domain Containing 102
FYVE Domain-Containing Dual Specificity Protein Phosphatase 12 3     KIAA03713

External Ids:    HGNC: 74511   Entrez Gene: 88972   Ensembl: ENSG000001003307   OMIM: 6035585   UniProtKB: Q136153   

Export aliases for MTMR3 gene to outside databases

Previous GC identifers: GC22P026975 GC22P028603 GC22P013241


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MTMR3 Gene:
This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded
protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM
domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The
protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze
phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has
been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found
free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Jul 2008)

GeneCards Summary for MTMR3 Gene:
MTMR3 (myotubularin related protein 3) is a protein-coding gene. GO annotations related to this gene include protein tyrosine phosphatase activity and phosphatidylinositol-3-phosphatase activity. An important paralog of this gene is MTMR7.

UniProtKB/Swiss-Prot: MTMR3_HUMAN, Q13615
Function: Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards
phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. May also dephosphorylate proteins
phosphorylated on Ser, Thr, and Tyr residues

Gene Wiki entry for MTMR3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MTMR3 gene promoter:
         SREBP-1a   Pbx1a   AML1a   Pax-5   MAZR   IRF-1   Cdc5   SREBP-1b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTMR3 promoter sequence
   Search Chromatin IP Primers for MTMR3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MTMR3


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

Entrez Gene cytogenetic band: 22q12.2   Ensembl cytogenetic band:  22q12.2   HGNC cytogenetic band: 22q12.2

MTMR3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTMR3 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P030279:  view genomic region     (about GC identifiers)

Start:
30,279,144 bp from pter      End:
30,426,857 bp from pter
Size:
147,714 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MTMR3_HUMAN, Q13615 (See protein sequence)
Recommended Name: Myotubularin-related protein 3  
Size: 1198 amino acids; 133619 Da
Sequence caution: Sequence=BAA20826.2; Type=Erroneous initiation;
Secondary accessions: A5PL26 A7MD32 Q9NYN5 Q9NYN6 Q9UDX6 Q9UEG3
Alternative splicing: 3 isoforms:  Q13615-1   Q13615-2   Q13615-3   

Explore the universe of human proteins at neXtProt for MTMR3: NX_Q13615

Explore proteomics data for MTMR3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MTMR3 (Q13615) (see all 7)
     YRTIEGF  GAVIARC  FMGMANIH  HCSDGWDRT 


    See MTMR3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_066576.1  NP_694690.1  NP_694691.1  

    ENSEMBL proteins: 
     ENSP00000384651   ENSP00000409063   ENSP00000318070   ENSP00000307271   ENSP00000384077  
     ENSP00000331649  
    Reactome Protein details: Q13615

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    antibodies-online proteins for MTMR3 (2 products) 

     
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    antibodies-online kits for MTMR3 (6 products) 


    (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 7):
     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 Q13615

    ProtoNet protein and cluster: Q13615

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


    UniProtKB/Swiss-Prot: MTMR3_HUMAN, Q13615
    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


    Find genes that share domains with MTMR3           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: MTMR3_HUMAN, Q13615
    Function: Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards
    phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. May also dephosphorylate proteins
    phosphorylated on Ser, Thr, and Tyr residues
    Catalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate

         Genatlas biochemistry entry for MTMR3:
    myotubularin related protein 3,expressed in skeletal muscle,heart,placenta,brain,liver and pancreas

         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:0004438phosphatidylinositol-3-phosphatase activity IDA10900271
    GO:0004722protein serine/threonine phosphatase activity IDA10733931
    GO:0004725protein tyrosine phosphatase activity IDA10733931
    GO:0016791phosphatase activity ----
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with MTMR3           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for MTMR3:
     Increased Akt phosphorylation   Increased Erk phosphorylation   Increased focal adhesion (FA)  

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Mtmr3):
     homeostasis/metabolism 

    Find genes that share phenotypes with MTMR3           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MTMR3

    miRNA
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    miRTarBase miRNAs that target MTMR3:
    hsa-mir-27b-3p (MIRT046210), hsa-mir-423-5p (MIRT038158), hsa-mir-125b-5p (MIRT045920), hsa-mir-106b-3p (MIRT038555), hsa-mir-877-5p (MIRT037294), hsa-mir-181a-5p (MIRT006871), hsa-mir-17-5p (MIRT050972), hsa-mir-106a-5p (MIRT048345)

    Block miRNA regulation of human, mouse, rat MTMR3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MTMR3 (see all 158):
    hsa-miR-520f hsa-miR-1321 hsa-miR-106a hsa-miR-519a hsa-miR-4275 hsa-miR-877* hsa-miR-149 hsa-miR-208b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    (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
    MTMR3_HUMAN, Q13615: Cytoplasm. Membrane; Peripheral membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus4
    golgi apparatus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0016020membrane IDA10733931

    Find genes that share ontologies with MTMR3           About GenesLikeMe


    (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 MTMR3 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1PI Metabolism
    PI Metabolism0.65
    Synthesis of PIPs at the plasma membrane0.65
    2Inositol phosphate metabolism (KEGG)
    superpathway of inositol phosphate compounds0.60
    D-myo-inositol-5-phosphate metabolism0.00
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    4Glycerophospholipid biosynthesis
    Phospholipid metabolism0.64
    5Phosphatases
    Phosphatases


    Find genes that share SuperPaths with MTMR3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for MTMR3
        Phosphatases

    3 BioSystems Pathways for MTMR3
        D-myo-inositol-5-phosphate metabolism
    3-phosphoinositide degradation
    superpathway of inositol phosphate compounds

    1 Reactome Pathway for MTMR3
        Synthesis of PIPs at the plasma membrane


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MTMR3
    Interactions:

        Search GeneGlobe Interaction Network for MTMR3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for MTMR3 (Q136153 ENSP000003846514) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOSC7Q150243, ENSP000002655644I2D: score=2 STRING: ENSP00000265564
    EXOSC1Q9Y3B23, ENSP000003599394I2D: score=1 STRING: ENSP00000359939
    EXOSC8Q96B263, ENSP000003743544I2D: score=2 STRING: ENSP00000374354
    FGFR3P226073I2D: score=1 
    PSEN2P498103I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006470protein dephosphorylation IDA10733931
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0016311dephosphorylation ----
    GO:0035335peptidyl-tyrosine dephosphorylation IDA10733931

    Find genes that share ontologies with MTMR3           About GenesLikeMe



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

    Browse Tocris compounds for MTMR3

    2 HMDB Compounds for MTMR3    About this table
    CompoundSynonyms CAS #PubMed Ids
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    2 Novoseek inferred chemical compound relationships for MTMR3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol 3-phosphate 91.3 5 10900271 (1), 20188094 (1)
    sodium orthovanadate 72.2 1 11302699 (1)



    Find genes that share compounds with MTMR3           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MTMR3 gene (4 alternative transcripts): 
    NM_021090.3  NM_153050.2  NM_153051.2  NM_001013676.1  

    Unigene Cluster for MTMR3:

    Myotubularin related protein 3
    Hs.474536  [show with all ESTs]
    Unigene Representative Sequence: NM_021090
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000401950 ENST00000495098 ENST00000445401 ENST00000323630 ENST00000351488
    ENST00000415511 ENST00000406629 ENST00000480776 ENST00000487907 ENST00000492087
    ENST00000491251 ENST00000333027(uc003agu.4 uc003agv.4 uc003agw.4)

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    hsa-miR-520f hsa-miR-1321 hsa-miR-106a hsa-miR-519a hsa-miR-4275 hsa-miR-877* hsa-miR-149 hsa-miR-208b
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      QuantiFast Probe-based Assays in human, mouse, rat MTMR3

    Additional mRNA sequence: 

    AB002369.1 AF233436.2 AF233437.1 AF233438.1 AK056895.1 AK289581.1 BC142713.1 BC148216.1 
    BC151217.1 BC152455.1 CR456525.1 

    20 DOTS entries:

    DT.92436633  DT.117209  DT.445568  DT.100783326  DT.95205820  DT.97843870  DT.97765791  DT.91993302 
    DT.423228  DT.100783328  DT.40288631  DT.100783325  DT.101959245  DT.92000926  DT.95205818  DT.95300426 
    DT.40254946  DT.91836276  DT.91851590  DT.95337723 

    Selected AceView cDNA sequences (see all 353):

    AI783536 AL713498 AW235954 AI797003 AW206782 AA936077 BF726258 CR608861 
    AW601504 BM694917 BE857377 H55106 AI424053 AA485170 BM974284 AA973514 
    BM712228 AI887839 BQ182105 BX333556 AA436554 BG677680 BQ231958 BM833854 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MTMR3 (see all 9)    About this scheme

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

    ExUns: 17a · 17b · 17c
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for MTMR3

    (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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    MTMR3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGCTCAGAT
    MTMR3 Expression
    About this image


    MTMR3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Eye (Sensory Organs)
             Lens
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebral Cortex
    MTMR3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MTMR3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.474536
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTMR3

    (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 MTMR3 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mtmr31 , 5 myotubularin related protein 31, 5 86.86(n)1
    87.69(a)1
      11 (2.94 cM)5
    743021  NM_028860.21  NP_083136.21 
     44808755 
    chicken
    (Gallus gallus)
    Aves MTMR31 myotubularin related protein 3 76.01(n)
    79.09(a)
      417015  XM_415304.4  XP_415304.3 
    African clawed frog
    (Xenopus laevis)
    Amphibia Mtmr32 myotubularin-related protein 3 76.96(n)    BC059312.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC062866.12   -- 77.43(n)   393838  BC062866.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG36323 protein amino acid dephosphorylation
    protein tyrosine/serine/threonine
    more
    48(a)     --


    ENSEMBL Gene Tree for MTMR3 (if available)
    TreeFam Gene Tree for MTMR3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MTMR3 gene
    MTMR72  MTMR42  MTMR122  MTMR22  MTMR102  MTM12  MTMR82  MTMR62  
    SBF22  MTMR92  MTMR112  SBF12  MTMR12  
    10 SIMAP similar genes for MTMR3 using alignment to 4 protein entries:     MTMR3_HUMAN (see all proteins):
    MTMR4    MTMR10    MTM1    MTMR2    MTMR1    MTMR6
    MTMR8    MTMR9    ZFYVE28    WUGSC

    Find genes that share paralogs with MTMR3           About GenesLikeMe



    (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 MTMR3 (see all 3295)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0356564
    A breast cancer sample4--see VAR_0356562 V L mis40--------
    rs585043801,2
    --30277244(+) GTGCAA/CCACCA 3 -- us2k10--------
    rs1477133251,2
    C--30277375(+) TCAGGA/CATGAG 3 -- us2k10--------
    rs773680861,2
    C,F--30277423(+) TTTTAC/TTTCAG 3 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1159751341,2
    F--30277531(+) TACACG/TCAATT 3 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1901405811,2
    --30277667(+) TGAGAA/CGGAGT 3 -- us2k10--------
    rs1465259221,2
    --30277676(+) GTCTTG/TCTCTG 3 -- us2k10--------
    rs1820937401,2
    --30277685(+) TGTCGA/CCCAGG 3 -- us2k10--------
    rs1861702101,2
    --30277723(+) CACTGC/TAACCT 3 -- us2k10--------
    rs1908811311,2
    --30277824(+) ATTTTC/TAGTAG 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for MTMR3 (30279144 - 30426857 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for MTMR3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2667111CNV Deletion23128226
    esv2724133CNV Deletion23290073
    esv271834CNV Insertion20981092
    nsv829163CNV Loss20364138
    esv26961CNV Loss19812545
    nsv3591CNV Loss18451855
    nsv523696CNV Gain19592680
    dgv760n67CNV Gain20364138
    esv27258CNV Gain19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MTMR3
    DNA2.0 Custom Variant and Variant Library Synthesis for MTMR3

    (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.)
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    OMIM gene information: 603558    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for MTMR3:
    Centronuclear myopathy

    Find genes that share disorders with MTMR3           About GenesLikeMe

    Genetic Association Database (GAD): MTMR3
    Human Genome Epidemiology (HuGE) Navigator: MTMR3 (1 document)

    Export disorders for MTMR3 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 MTMR3 gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with MTMR3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. (PubMed id 9736772)1, 2, 3 Laporte J....Mandel J.-L. (Hum. Mol. Genet. 1998)
    2. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. (PubMed id 8640223)1, 2, 3 Laporte J.... Dahl N. (Nat. Genet. 1996)
    3. FYVE-DSP1, a dual-specificity protein phosphatase containing an FYVE domain. (PubMed id 10733931)1, 2, 9 Zhao R.... Zhao Z.J. (Biochem. Biophys. Res. Commun. 2000)
    4. A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy. (PubMed id 22197929)1, 4 Yu X.Q....Liu J.J. (Nat. Genet. 2012)
    5. A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese. (PubMed id 21725308)1, 4 Hu Z....Shen H. (Nat. Genet. 2011)
    6. Mutational analysis of mononucleotide repeats in dual specificity tyrosine phosphatase genes in gastric and colon carcinomas with microsatellite instability. (PubMed id 20477815)1, 4 Song S.Y....Lee S.H. (APMIS 2010)
    7. Common variants at five new loci associated with early-onset inflammatory bowel disease. (PubMed id 19915574)1, 4 Imielinski M....Hakonarson H. (Nat. Genet. 2009)
    8. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    9. Characterization of MTMR3. an inositol lipid 3-phosphatase with novel substrate specificity. (PubMed id 11676921)1, 2 Walker D.M.... Clague M.J. (Curr. Biol. 2001)
    10. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)

    (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: 8897 HGNC: 7451 AceView: MTMR3 Ensembl:ENSG00000100330 euGenes: HUgn8897
    ECgene: MTMR3 H-InvDB: MTMR3

    (According to HUGE)
    About This Section

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    HUGE: KIAA0371

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

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    NameDescription
    PharmGKB entry for MTMR3 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 MTMR3 gene:
    Search GeneIP for patents involving MTMR3

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



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