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

MTMR14 Gene

protein-coding   GIFtS: 54
GCID: GC03P009691

myotubularin related protein 14

(Previous name: chromosome 3 open reading frame 29 )
(Previous symbol: C3orf29)
 Explore 6 diseases affiliated with
MTMR14 via our new
 Human Malady Compendium 
Biological research products
for MTMR14
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Myotubularin Related Protein 141 2     Chromosome 3 Open Reading Frame 291
C3orf291 2 3 5     HEDTP1
HJumpy1     Egg-Derived Tyrosine Phosphatase Homolog2
NS5ATP4ABP12 3     Jumpy1
HCV NS5A-Transactivated Protein 4 Splice Variant A-Binding Protein 12 3     Myotubularin-Related Protein 142
FLJ224051     EC 3.1.3.-3
FLJ903111     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MTMR14:
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)

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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MTMR14

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

UniProtKB/Swiss-Prot: MTMRE_HUMAN, Q8NCE2 (See protein sequence)
Recommended Name: Myotubularin-related protein 14  
Size: 650 amino acids; 72203 Da
Subcellular location: Cytoplasm. Note=Found in reticular structures and plasma membrane ruffles. Concentrated near the
nucleus
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NCE2

  • MTMR14 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Uscn Proteins for MTMR14

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    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



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

    MTMR14 for domains           About GeneDecksing

    1 InterPro domain/family:
     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


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

    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    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


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

    Animal Models:
         Mouse knock-out Mtmr14tm1Ckq for MTMR14
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mtmr14):
     behavior/neurological  cardiovascular system  homeostasis/metabolism  muscle 

    MTMR14 for phenotypes           About GeneDecksing


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

    Unified GeneCards pathways - 5/8 super-pathways (see all 8About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    Metabolism1.00
    Metabolism of lipids and lipoproteins0.34
    2PI Metabolism
    PI Metabolism1.00
    Synthesis of PIPs at the plasma membrane0.66
    3Phosphatases
    Phosphatases1.00
    4Ca, cAMP and Lipid Signaling
    Ca, cAMP and Lipid Signaling1.00
    5D-myo-inositol-5-phosphate metabolism
    D-myo-inositol-5-phosphate metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    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

    5        Reactome Pathways for MTMR14
        Metabolism
    Synthesis of PIPs at the plasma membrane
    Phospholipid metabolism
    Metabolism of lipids and lipoproteins
    PI Metabolism



    MTMR14 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MTMR14

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

    5/16 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 (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MTMR14

    1 HMDB Compound for MTMR14    About this table
    CompoundSynonyms CAS #PubMed Ids
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    Search CenterWatch for drugs/clinical trials and news about MTMR14 / MTMRE 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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
    12 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

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    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
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    Additional cDNA 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 

    24/110 AceView cDNA sequences (see all 110):

    BQ073190 BQ924243 AA308452 BC050626 BC035690 NM_022485 BQ638376 BU528729 
    CB149417 BC001674 BQ052546 BI333069 BQ228797 BQ434354 BI856365 CB138817 
    CB128443 AL713695 AK026058 BF308811 AF289603 BG751022 BG177259 AK074792 

    GeneLoc Exon Structure

    5/13 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MTMR14 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACTTCACAAA

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

    About this image
    See MTMR14 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MTMR14

    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

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

    This gene was present in the common ancestor of animals.

    Orthologs for MTMR14 gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mtmr141 , 5 myotubularin related protein 141, 5 89.87(n)1
    90.59(a)1
      6 (52.74 cM)5
    972871  NM_026849.21  NP_081125.21 
     1132378435 
    chicken
    (Gallus gallus)
    Aves MTMR141 myotubularin related protein 14 77.69(n)
    80.45(a)
      416048  XM_414387.3  XP_414387.3 
    lizard
    (Anolis carolinensis)
    Reptilia MTMR146
    --
    78(a)
    1 ↔ 1
    2(190907236-190996315)
    zebrafish
    (Danio rerio)
    Actinopterygii wufc14d112 wufc14d11 80.67(n)   323929  AI658109.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta EDTP6
    Egg-derived tyrosine phosphatase
    29(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
    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, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/917 NCBI SNPs in MTMR14 are shown (see all 917    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs769464701,2
    F,--9625570(+) AGAAAA/GTATCT 3 -- us2k11Minor allele frequency- G:0.03WA 118
    rs11844671,2
    H--9625861(+) cgtttC/Ttaaaa 3 -- us2k14Minor allele frequency- T:0.00NS EA 410
    rs98256471,2
    C,F,A,H,--9626073(+) GTTTAA/CCAAAA 3 -- us2k116Minor allele frequency- C:0.13NS EA NA WA CSA 1665
    rs283727841,2
    C--9627574(+) GGGTGC/TAGGCA 3 -- ut51 ese34Minor allele frequency- T:0.00MN EA NA 1256
    rs68008521,2
    C,F,A,H,--9627849(+) GAAAGG/CCTGAG 3 -- int1 trp36Minor allele frequency- C:0.06NS EA CSA WA 524
    rs117063401,2
    C,F,H,--9627887(+) GTACCT/CCGCCG 3 -- int15Minor allele frequency- C:0.13NA CSA WA EA 364
    rs622456091,2
    C,F,--9627909(+) GAGAGG/AGAGAG 3 -- int12Minor allele frequency- A:0.50NA 4
    rs748267651,2
    F,--9628097(+) GGTCTA/TTTCCC 3 -- int11Minor allele frequency- T:0.02EA 120
    rs563103671,2
    F,--9628448(+) GTGCGG/ATGGGA 3 -- int13Minor allele frequency- A:0.08WA NA EA 358
    rs67905341,2
    C,F,A,H,--9628510(+) CACCAA/TGTTTT 3 -- int113Minor allele frequency- T:0.06NS EA NA CSA WA 1344

    HapMap Linkage Disequilibrium report for MTMR14 (9691117 - 9744078 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MTMR14: --
    Human Gene Mutation Database (HGMD): MTMR14

    Locus Specific Mutation Databases (LSDB): MTMR14

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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

    MTMR14 for disorders           About GeneDecksing

    OMIM gene information: 611089   
    OMIM disorders: 160150  
    UniProtKB/Swiss-Prot: MTMRE_HUMAN, Q8NCE2
  • Defects in MTMR14 may be a cause of centronuclear myopathy type 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=MTMR14 mutations may act as modifiers of the phenotype in some cases of centronuclear myopathy (PubMed:17008356)

    6 diseases for MTMR14:    About MalaCards
    centronuclear myopathy    centronuclear myopathy, autosomal, modifier of    myopathy    polyhydramnios
    muscle disorders    ptosis

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

    PubMed articles for MTMR14 gene, integrated from 9 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. 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. (2006)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Protein tyrosine phosphatases in the human genome. (PubMed id 15186772)1, 3 Alonso A....Mustelin T. (2004)
    4. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. The role of MTMR14 in autophagy and in muscle disease . (PubMed id 20595810)1 Gibbs E.M....Dowling J.J. (2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    10. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64419 HGNC: 26190 AceView: FLJ22405 Ensembl:ENSG00000163719 euGenes: HUgn64419
    ECgene: MTMR14 H-InvDB: MTMR14

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MTMR14 Pharmacogenomics, SNPs, Pathways

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



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