Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



MTMR14 Gene

protein-coding   GIFtS: 59
GCID: GC03P009691

Myotubularin Related Protein 14

(Previous name: chromosome 3 open reading frame 29)
(Previous symbol: C3orf29)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Myotubularin Related Protein 141 2     Egg-Derived Tyrosine Phosphatase Homolog2
C3orf291 2 3 5     jumpy2
NS5ATP4ABP12 3     Myotubularin-Related Protein 142
HCV NS5A-Transactivated Protein 4 Splice Variant A-Binding Protein 12 3     EC 3.1.3.-3
Chromosome 3 Open Reading Frame 291     hJumpy3
Egg-Derived Tyrosine Phosphatase Homolog (Drosophila)1     HJUMPY5

External Ids:    HGNC: 261901   Entrez Gene: 644192   Ensembl: ENSG000001637197   OMIM: 6110895   UniProtKB: Q8NCE23   

Export aliases for MTMR14 gene to outside databases

Previous GC identifers: GC03P009668 GC03P009627


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

TryGeneCards Plus

Entrez Gene summary for MTMR14 Gene:
This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that
specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate.
Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results
in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.(provided by RefSeq, Apr
2010)

GeneCards Summary for MTMR14 Gene:
MTMR14 (myotubularin related protein 14) is a protein-coding gene. Diseases associated with MTMR14 include centronuclear myopathy, autosomal, modifier of, and centronuclear myopathy. GO annotations related to this gene include protein tyrosine phosphatase activity and phosphatidylinositol-3-phosphatase activity.

UniProtKB/Swiss-Prot: MTMRE_HUMAN, Q8NCE2
Function: Lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and
PtdIns(3,5)P2; inactive toward PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P3

Gene Wiki entry for MTMR14 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MTMR14 gene promoter:
         Bach1   NRSF form 1   Pax-6   NRSF form 2   Gfi-1   N-Myc   FOXO1a   STAT3   ZIC2/Zic2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTMR14 promoter sequence
   Search Chromatin IP Primers for MTMR14

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MTMR14


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

Entrez Gene cytogenetic band: 3p26   Ensembl cytogenetic band:  3p25.3   HGNC cytogenetic band: 3p26

MTMR14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTMR14 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P009691:  view genomic region     (about GC identifiers)

Start:
9,691,117 bp from pter      End:
9,744,078 bp from pter
Size:
52,962 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, 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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: MTMRE_HUMAN, Q8NCE2 (See protein sequence)
Recommended Name: Myotubularin-related protein 14  
Size: 650 amino acids; 72203 Da
Sequence caution: Sequence=BAB15340.1; Type=Erroneous initiation;
Secondary accessions: Q0JTH5 Q0JU83 Q6PIZ4 Q6QE21 Q86VK9 Q8IYK1 Q8TCM7 Q9H6C0
Alternative splicing: 3 isoforms:  Q8NCE2-1   Q8NCE2-2   Q8NCE2-3   

Explore the universe of human proteins at neXtProt for MTMR14: NX_Q8NCE2

Explore proteomics data for MTMR14 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys409
  • Glycosylation2 at Asn226, Asn519
  • Modification sites at PhosphoSitePlus

  • See MTMR14 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001070993.1  NP_001070994.1  NP_071930.2  

    ENSEMBL proteins: 
     ENSP00000323462   ENSP00000401993   ENSP00000296003   ENSP00000410761   ENSP00000392690  
     ENSP00000334070   ENSP00000412644   ENSP00000408813   ENSP00000411417   ENSP00000392935  
     ENSP00000388746  
    Reactome Protein details: Q8NCE2

    MTMR14 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 Proteins for MTMR14
    OriGene Protein Over-expression Lysate for MTMR14
    OriGene MassSpec for MTMR14
    OriGene Custom Protein Services for MTMR14
    GenScript Custom Purified and Recombinant Proteins Services for MTMR14
    Novus Biologicals MTMR14 Protein
    Novus Biologicals MTMR14 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MTMR14

    MTMR14 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for MTMR14 
    OriGene Antibodies for MTMR14
    OriGene Custom Antibody Services for MTMR14
    Novus Biologicals MTMR14 Antibodies
    Abcam antibodies for MTMR14
    Cloud-Clone Corp. Antibodies for MTMR14
    ThermoFisher Antibody for MTMR14
    LSBio Antibodies in human, mouse, rat for MTMR14

    MTMR14 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MTMR14
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MTMR14
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MTMR14
    Cloud-Clone Corp. CLIAs for MTMR14


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

    TryGeneCards Plus
    HGNC Gene Families:
    DUSPM: Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins

    1 InterPro protein domain:
     IPR016130 Tyr_Pase_AS

    Graphical View of Domain Structure for InterPro Entry Q8NCE2

    ProtoNet protein and cluster: Q8NCE2

    UniProtKB/Swiss-Prot: MTMRE_HUMAN, Q8NCE2
    Similarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily


    MTMR14 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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MTMRE_HUMAN, Q8NCE2
    Function: Lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and
    PtdIns(3,5)P2; inactive toward PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P3

         Enzyme Number (IUBMB): EC 3.1.3.-1

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004438phosphatidylinositol-3-phosphatase activity IDA17008356
    GO:0004725protein tyrosine phosphatase activity IEA--
         
    MTMR14 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for MTMR14:
     G0/1 arrest  Increased G1 DNA content  Increased Salmonella enterica   Increased gamma-H2AX phosphory 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mtmr14):
     behavior/neurological  cardiovascular system  homeostasis/metabolism  muscle 

    MTMR14 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mtmr14tm1Ckq for MTMR14

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MTMR14
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MTMR14

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MTMR14
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MTMR14

    miRNA
    Products:
        
    miRTarBase miRNAs that target MTMR14:
    hsa-mir-877-5p (MIRT037362), hsa-let-7e-5p (MIRT051539), hsa-mir-193b-3p (MIRT041555), hsa-mir-92a-3p (MIRT049480), hsa-mir-145-5p (MIRT021522)

    Block miRNA regulation of human, mouse, rat MTMR14 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MTMR14 (see all 16):
    hsa-miR-148b* hsa-miR-185* hsa-miR-148b hsa-miR-125a-3p hsa-miR-657 hsa-miR-4260 hsa-miR-3119 hsa-miR-24
    SwitchGear 3'UTR luciferase reporter plasmidMTMR14 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MTMR14
    Predesigned siRNA for gene silencing in human, mouse, rat MTMR14

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MTMR14

    Clone
    Products:
         
    OriGene clones in human, mouse for MTMR14 (see all 17)
    OriGene ORF clones in mouse, rat for MTMR14
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): MTMR14 (NM_001077525)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTMR14
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTMR14

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MTMR14
    Browse ESI BIO Cell Lines and PureStem Progenitors for MTMR14 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTMR14


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    MTMRE_HUMAN, Q8NCE2: Cytoplasm. Note=Found in reticular structures and plasma membrane ruffles. Concentrated near
    the nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1
    vacuole1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle IDA17008356
    GO:0005829cytosol TAS--
    GO:0048471perinuclear region of cytoplasm IDA17008356

    MTMR14 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).
    About This Section

    TryGeneCards Plus

    SuperPaths for MTMR14 About   (see all 7)  
    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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for MTMR14
        Phosphatases
    Ca, cAMP and Lipid Signaling

    3 BioSystems Pathways for MTMR14
        D-myo-inositol-5-phosphate metabolism
    3-phosphoinositide degradation
    superpathway of inositol phosphate compounds

    1 Reactome Pathway for MTMR14
        Synthesis of PIPs at the plasma membrane



    MTMR14 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MTMR14
    Interactions:

        Search GeneGlobe Interaction Network for MTMR14

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for MTMR14 (Q8NCE22, 3 ENSP000002960034) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP1LC3BQ9GZQ82, 3, ENSP000002686074MINT-7904094 MINT-7904128 MINT-7904317 MINT-7904271 MINT-7904284 I2D: score=1 STRING: ENSP00000268607
    YWHABP319463I2D: score=1 
    INPP4AENSP000000743044STRING: ENSP00000074304
    PIKFYVEENSP000002643804STRING: ENSP00000264380
    PIP4K2AENSP000003657574STRING: ENSP00000365757
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0044281small molecule metabolic process TAS--

    MTMR14 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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MTMR14 (MTMRE)

    1 HMDB Compound for MTMR14    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,
    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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for MTMR14 gene (3 alternative transcripts): 
    NM_001077525.2  NM_001077526.2  NM_022485.4  

    Unigene Cluster for MTMR14:

    Myotubularin related protein 14
    Hs.475382  [show with all ESTs]
    Unigene Representative Sequence: NM_001077525
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000353332(uc003bsa.3 uc003bsb.3 uc010hcl.3 uc021wss.1)
    ENST00000420925 ENST00000296003(uc003brz.3 uc011ath.2 uc003bsc.3)
    ENST00000447144 ENST00000430020 ENST00000351233 ENST00000416864 ENST00000437997
    ENST00000480578 ENST00000449543 ENST00000414996 ENST00000431250 ENST00000606184

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MTMR14 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MTMR14 (see all 16):
    hsa-miR-148b* hsa-miR-185* hsa-miR-148b hsa-miR-125a-3p hsa-miR-657 hsa-miR-4260 hsa-miR-3119 hsa-miR-24
    SwitchGear 3'UTR luciferase reporter plasmidMTMR14 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MTMR14
    Predesigned siRNA for gene silencing in human, mouse, rat MTMR14
    Clone
    Products:
         
    OriGene clones in human, mouse for MTMR14 (see all 17)
    OriGene ORF clones in mouse, rat for MTMR14
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): MTMR14 (NM_001077525)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTMR14
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTMR14
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MTMR14
    OriGene qSTAR qPCR primer pairs in human, mouse for MTMR14
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MTMR14
      QuantiTect SYBR Green Assays in human, mouse, rat MTMR14
      QuantiFast Probe-based Assays in human, mouse, rat MTMR14

    Additional mRNA sequence: 

    AF289603.1 AK026058.1 AK074792.1 AL713695.1 AY007098.1 AY545552.1 BC001674.1 BC025952.1 
    BC035690.1 BC050626.1 DQ630520.1 

    17 DOTS entries:

    DT.100811440  DT.100028506  DT.100811444  DT.100811437  DT.446443  DT.91972202  DT.95190780  DT.100860928 
    DT.40132283  DT.91798231  DT.100811441  DT.120911144  DT.120911170  DT.120911184  DT.95190785  DT.95190787 
    DT.97846999 

    Selected AceView cDNA sequences (see all 110):

    BQ073190 AF289603 AL713695 BF308811 BI258388 CB128443 BQ638376 AK026058 
    BC050626 AA308452 BC035690 BQ924243 BQ434354 BI333069 CB149417 BU528729 
    BQ052546 AK074792 BI856365 BG751022 CB138817 BG177259 BQ228797 BC001674 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MTMR14 (see all 13)    About this scheme

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

    ExUns: 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
    SP1:                                                
    SP2:                                      -         
    SP3:                                -     -         
    SP4:                                -               
    SP5:                                                


    ECgene alternative splicing isoforms for MTMR14

    (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)
    About This Section

    TryGeneCards Plus

    MTMR14 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTTCACAAA
    MTMR14 Expression
    About this image

    MTMR14 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MTMR14 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.475382

    UniProtKB/Swiss-Prot: MTMRE_HUMAN, Q8NCE2
    Tissue specificity: Expressed in various tissues, including heart, skeletal muscle, placenta, liver, lung, kidney
    and pancreas

        Custom PCR Arrays for MTMR14
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MTMR14
    OriGene qSTAR qPCR primer pairs in human, mouse for MTMR14
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MTMR14
    QuantiTect SYBR Green Assays in human, mouse, rat MTMR14
    QuantiFast Probe-based Assays in human, mouse, rat MTMR14
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTMR14

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for MTMR14 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mtmr141 , 5 myotubularin related protein 141, 5 90.06(n)1
    90.75(a)1
      6 (52.74 cM)5
    972871  NM_026849.21  NP_081125.21 
     1132378435 
    chicken
    (Gallus gallus)
    Aves MTMR146
    myotubularin related protein 14
    83(a)
    1 ↔ 1
    12(11415875-11444558)
    lizard
    (Anolis carolinensis)
    Reptilia MTMR146
    myotubularin related protein 14
    75(a)
    1 ↔ 1
    2(190906735-190983762)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mtmr141 myotubularin related protein 14 71.99(n)
    72.65(a)
      100036693  NM_001097244.1  NP_001090713.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc14d112 wufc14d11 80.67(n)   323929  AI658109.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta EDTP6
    Egg-derived tyrosine phosphatase
    30(a)
    1 ↔ 1
    2R(13319615-13332443)


    ENSEMBL Gene Tree for MTMR14 (if available)
    TreeFam Gene Tree for MTMR14 (if available)

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

    TryGeneCards Plus
    Paralogs for MTMR14 gene

    MTMR14 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for MTMR14
    PGOHUM00000234956 PGOHUM00000244010


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for MTMR14 (see all 1193)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs10857191,2
    C,F,H--9623851(-) ATTATT/ATGGtg 3 -- us2k17Minor allele frequency- A:0.41NS EA NA 660
    rs1491587781,2
    C--9623859(+) AATCCA/GGTCAT 3 -- us2k10--------
    rs769464701,2
    F--9623913(+) AGAAAA/GTATCT 3 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1858748891,2
    --9623923(+) TAGTAC/GGCCAG 3 -- us2k10--------
    rs1482747571,2
    C--9624025(+) CATGG-/TGAGAC 3 -- us2k10--------
    rs1908762131,2
    --9624101(+) CTTGGA/GAGGCT 3 -- us2k10--------
    rs11844671,2
    H--9624204(+) cgtttC/Ttaaaa 3 -- us2k14Minor allele frequency- T:0.00NS EA 410
    rs1834259231,2
    --9624281(+) GGATAA/GTGATT 3 -- us2k10--------
    rs1865918901,2
    --9624323(+) GTGGTA/GGGTGG 3 -- us2k10--------
    rs98256471,2
    C,F,A,H--9624416(+) GTTTAA/CCAAAA 3 -- us2k116Minor allele frequency- C:0.13NS EA NA WA CSA 1665

    HapMap Linkage Disequilibrium report for MTMR14 (9691117 - 9744078 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MTMR14:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv269835CNV Insertion20981092

    Human Gene Mutation Database (HGMD): MTMR14
    Locus Specific Mutation Databases (LSDB): MTMR14

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MTMR14
    DNA2.0 Custom Variant and Variant Library Synthesis for MTMR14

    (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

    TryGeneCards Plus
    OMIM gene information: 611089   
    OMIM disorders: 160150  
    UniProtKB/Swiss-Prot: MTMRE_HUMAN, Q8NCE2
  • Myopathy, centronuclear, 1 (CNM1) [MIM:160150]: A congenital muscle disorder characterized by progressive
    muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal
    muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade
    of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high
    frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of
    sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. Note=The gene
    represented in this entry may act as a disease modifier. MTMR14 mutations affecting enzymatic function have been
    found in sporadic cases of centronuclear myopathy, one of them carrying a disease-associated mutation in DNM2
    (PubMed:17008356). This raises the possibility of MTMR14 being a modifier of the phenotype in some cases of
    centronuclear myopathy (PubMed:17008356)

  • 6 diseases for MTMR14:    
    About MalaCards
    centronuclear myopathy, autosomal, modifier of    centronuclear myopathy    polyhydramnios    myopathy
    multiple myeloma    myeloma

    1 disease from the University of Copenhagen DISEASES database for MTMR14:
    Centronuclear myopathy

    MTMR14 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MTMR14
    Human Genome Epidemiology (HuGE) Navigator: MTMR14 (1 document)

    Export disorders for MTMR14 gene to outside databases

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

    TryGeneCards Plus

    PubMed articles for MTMR14 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with MTMR14)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. (PubMed id 17008356)1, 2 Tosch V.... Laporte J. (Hum. Mol. Genet. 2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Protein tyrosine phosphatases in the human genome. (PubMed id 15186772)1, 3 Alonso A....Mustelin T. (Cell 2004)
    5. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    6. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    7. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    8. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    9. The role of MTMR14 in autophagy and in muscle disease. (PubMed id 20595810)1 Gibbs E.M....Dowling J.J. (Autophagy 2010)
    10. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)

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

    TryGeneCards Plus
     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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 64419 HGNC: 26190 AceView: FLJ22405 Ensembl:ENSG00000163719 euGenes: HUgn64419
    ECgene: MTMR14 H-InvDB: MTMR14

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for MTMR14 Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for MTMR14 gene:
    Search GeneIP for patents involving MTMR14

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for MTMR14   OriGene RNAi products in human, mouse, rat for MTMR14  
     OriGene qPCR primer pairs and template standards for MTMR14   OriGene Protein Over-expression Lysate for MTMR14  
     OriGene MassSpec something-or-other for MTMR14   OriGene clones in human, mouse for MTMR14  
     OriGene qSTAR qPCR primer pairs in human, mouse for MTMR14   OriGene Purified Protein for MTMR14  
     OriGene ORF clones in mouse, rat for MTMR14   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MTMR14   OriGene Custom Protein Services for MTMR14  

     
     
     Block miRNA regulation of human, mouse, rat MTMR14 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing MTMR14
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MTMR14 Predesigned siRNA for gene silencing in human, mouse, rat MTMR14
     QuantiFast Probe-based Assays in human, mouse, rat MTMR14 QuantiTect SYBR Green Assays in human, mouse, rat MTMR14
     Custom PCR Arrays for MTMR14 Search Chromatin IP Primers for MTMR14
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MTMR14  Search GeneGlobe Interaction Network for MTMR14
     Regulatory tfbs in MTMR14 promoter
     GenScript Custom Purified and Recombinant Proteins Services for MTMR14 GenScript cDNA clones with any tag delivered in your preferred vector for MTMR14
     GenScript Custom Assay Services for MTMR14 GenScript Custom overexpressing Cell Line Services for MTMR14
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Antibodies & Assays for MTMR14 

     Search Tocris compounds for MTMR14 (MTMRE)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     MTMR14 antibodies
     MTMR14 proteins
     MTMR14 lysates
     Antibodies for MTMR14
     See all of Abcam's Antibodies, Kits and Proteins for MTMR14
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for MTMR14
     Antibodies for MTMR14
     ELISAs for MTMR14
     CLIAs for MTMR14



     Browse ESI BIO Cell Lines and PureStem Progenitors for MTMR14
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTMR14
     SwitchGear 3'UTR luciferase reporter plasmids for MTMR14
     SwitchGear Promoter luciferase reporter plasmids for MTMR14
     ThermoFisher Antibody for MTMR14
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTMR14
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MTMR14
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MTMR14
     LSBio Antibodies in human, mouse, rat for MTMR14
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

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


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      MTMR14 gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4