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MTMR12 Gene

protein-coding   GIFtS: 57
GCID: GC05M032227

Myotubularin Related Protein 12

(Previous name: phosphatidylinositol-3-phosphate associated protein)
(Previous symbol: PIP3AP)
  See MTMR12-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Myotubularin Related Protein 121 2     KIAA16823 5
PIP3AP1 2 3     3-Phosphatase Adapter Subunit2
Phosphatidylinositol-3-Phosphate Associated Protein1 2     Myotubularin-Related Protein 122
Phosphatidylinositol 3 Phosphate 3-Phosphatase Adapter Subunit2 3     Phosphatidylinositol-3 Phosphate 3-Phosphatase Adapter Subunit2
3-PAP2 3     Phosphatidylinositol-3 Phosphate 3-Phosphatase Adaptor Subunit2
3-Phosphatase Adapter Protein2 3     3PAP5

External Ids:    HGNC: 181911   Entrez Gene: 545452   Ensembl: ENSG000001507127   OMIM: 6065015   UniProtKB: Q9C0I13   

Export aliases for MTMR12 gene to outside databases

Previous GC identifers: GC05M032263 GC05M032194


(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 MTMR12 Gene:
Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol
3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an
adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants
have been identified, but their biological validity has not been determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for MTMR12 Gene:
MTMR12 (myotubularin related protein 12) is a protein-coding gene. Diseases associated with MTMR12 include cri-du-chat syndrome. GO annotations related to this gene include phosphatase activity. An important paralog of this gene is MTMR7.

UniProtKB/Swiss-Prot: MTMRC_HUMAN, Q9C0I1
Function: Catalytically inactive phosphatase that plays a role as an adapter for the phosphatase myotubularin to
regulate myotubularin intracellular location




(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_000005.9  NT_006576.17  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MTMR12 gene promoter:
         c-Fos   AP-1   FosB   HNF-1A   Max   AREB6   COMP1   HNF-1   c-Jun   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MTMR12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MTMR12


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

Entrez Gene cytogenetic band: 5p13.3   Ensembl cytogenetic band:  5p13.3   HGNC cytogenetic band: 5p15.33

MTMR12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTMR12 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M032227:  view genomic region     (about GC identifiers)

Start:
32,227,100 bp from pter      End:
32,313,115 bp from pter
Size:
86,016 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MTMRC_HUMAN, Q9C0I1 (See protein sequence)
Recommended Name: Myotubularin-related protein 12  
Size: 747 amino acids; 86148 Da
Subunit: Interacts with myotubularin MTM1 and myotubularin-related MTMR2
Caution: Lacks the phosphocysteine intermediate Cys active site in position 391 that is replaced by a Glu residue,
preventing the hydrolase activity
Sequence caution: Sequence=BAB21773.1; Type=Erroneous initiation;
Secondary accessions: Q69YJ4 Q6PFW3 Q96QU2 Q9NX27
Alternative splicing: 3 isoforms:  Q9C0I1-1   Q9C0I1-2   Q9C0I1-3   

Explore the universe of human proteins at neXtProt for MTMR12: NX_Q9C0I1

Explore proteomics data for MTMR12 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys138
  • Modification sites at PhosphoSitePlus

  • See MTMR12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001035536.1  
    ENSEMBL proteins: 
     ENSP00000280285   ENSP00000371577   ENSP00000264934   ENSP00000426028   ENSP00000426912  

    MTMR12 Human Recombinant Protein Products:

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    Novus Biologicals MTMR12 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for MTMR12

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

    4 InterPro protein domains:
     IPR017906 Myotubularin_phosphatase_dom
     IPR010569 Myotubularin-like_Pase_dom
     IPR011993 PH_like_dom
     IPR022587 Myotubularin_assoc

    Graphical View of Domain Structure for InterPro Entry Q9C0I1

    ProtoNet protein and cluster: Q9C0I1

    1 Blocks protein domain: IPB010569 Myotubularin-related

    UniProtKB/Swiss-Prot: MTMRC_HUMAN, Q9C0I1
    Similarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily
    Similarity: Contains 1 myotubularin phosphatase domain


    Find genes that share domains with MTMR12           About GenesLikeMe


    (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, 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: MTMRC_HUMAN, Q9C0I1
    Function: Catalytically inactive phosphatase that plays a role as an adapter for the phosphatase myotubularin to
    regulate myotubularin intracellular location

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12847286
    GO:0016791phosphatase activity IEA--
         
    Find genes that share ontologies with MTMR12           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for MTMR12:
     Decreased viability  Increased Salmonella enterica   Increased apoptosis 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MTMR12
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    miRNA
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    miRTarBase miRNAs that target MTMR12:
    hsa-mir-1 (MIRT003764), hsa-mir-125b-5p (MIRT046081), hsa-mir-21-5p (MIRT030932), hsa-mir-192-5p (MIRT026657), hsa-mir-324-5p (MIRT043213), hsa-mir-181a-5p (MIRT025161), hsa-mir-215-5p (MIRT024864)

    Block miRNA regulation of human, mouse, rat MTMR12 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MTMR12 (see all 96):
    hsa-miR-3938 hsa-miR-607 hsa-miR-520f hsa-miR-300 hsa-miR-200a hsa-miR-3653 hsa-miR-890 hsa-miR-29a*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Predesigned siRNA for gene silencing in human, mouse, rat MTMR12

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTMR12

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTMR12


    (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
    MTMRC_HUMAN, Q9C0I1: Cytoplasm. Note=Localizes to punctate vesicles when associated with MTM1
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    mitochondrion1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with MTMR12           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MTMR12
    Interactions:

        Search GeneGlobe Interaction Network for MTMR12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for MTMR12 (Q9C0I11, 2, 3 ENSP000003715774) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MTMR2Q136142, 3, ENSP000003457524MINT-8217155 I2D: score=1 STRING: ENSP00000345752
    MTM1Q134961, 2, 3, ENSP000003594234EBI-2829520,EBI-2864109 MINT-8216994 MINT-8217019 MINT-8217228 MINT-8217008 I2D: score=1 STRING: ENSP00000359423
    KBTBD7Q8WVZ93I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    MED14ENSP000003237204STRING: ENSP00000323720
    About this table

    (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 MTMR12 (MTMRC)

    3 Novoseek inferred chemical compound relationships for MTMR12 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol 3-phosphate 92.3 5 11846405 (2), 11504939 (1), 1656463 (1)
    phosphatidylinositol 58.1 1 1656463 (1)
    lipid 28.2 2 11504939 (1), 12847286 (1)



    Find genes that share compounds with MTMR12           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 MTMR12 gene (2 alternative transcripts): 
    NM_001040446.1  NM_019061.2  

    Unigene Cluster for MTMR12:

    Myotubularin related protein 12
    Hs.481836  [show with all ESTs]
    Unigene Representative Sequence: NM_001040446
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000280285 ENST00000382142(uc003jhq.3 uc010iuk.3 uc010iul.3)
    ENST00000264934 ENST00000510216 ENST00000504049 ENST00000505419 ENST00000513622

    miRNA
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    Block miRNA regulation of human, mouse, rat MTMR12 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MTMR12 (see all 96):
    hsa-miR-3938 hsa-miR-607 hsa-miR-520f hsa-miR-300 hsa-miR-200a hsa-miR-3653 hsa-miR-890 hsa-miR-29a*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Predesigned siRNA for gene silencing in human, mouse, rat MTMR12
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    OriGene ORF clones in mouse, rat for MTMR12
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MTMR12 (NM_001040446)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTMR12
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MTMR12
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MTMR12
      QuantiTect SYBR Green Assays in human, mouse, rat MTMR12
      QuantiFast Probe-based Assays in human, mouse, rat MTMR12

    Additional mRNA sequence: 

    AF085901.1 AK000483.1 AK000967.1 AL833231.1 AY028703.1 BC057393.1 

    7 DOTS entries:

    DT.86839464  DT.91819268  DT.100642802  DT.114764  DT.100778564  DT.91674264  DT.120840639 

    Selected AceView cDNA sequences (see all 144):

    AA954508 AB051469 AU117939 AY028703 CD251040 AI631808 AA775766 BU158943 
    BX099789 AW517923 AW078962 BQ184827 AA370287 AA810041 BM477473 AW264136 
    CD643788 BQ017266 AK000483 BG230593 AA773580 AI741142 BG613924 BF115204 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MTMR12 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for MTMR12

    (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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    MTMR12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACAATTTTTG
    MTMR12 Expression
    About this image

    MTMR12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MTMR12 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.481836

    UniProtKB/Swiss-Prot: MTMRC_HUMAN, Q9C0I1
    Tissue specificity: Ubiquitous with prominent expression in brain, heart, kidney, placenta, and lung

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    In Situ
    Assay Products:
     

     
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for MTMR12 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mtmr121 , 5 myotubularin related protein 121, 5 87.06(n)1
    89.65(a)1
      15 (5.90 cM)5
    2687831  NM_172958.31  NP_766546.11 
     122050285 
    chicken
    (Gallus gallus)
    Aves MTMR121 myotubularin related protein 12 73.86(n)
    75.41(a)
      427423  XM_424996.4  XP_424996.3 
    lizard
    (Anolis carolinensis)
    Reptilia MTMR126
    myotubularin related protein 12
    69(a)
    1 ↔ 1
    GL343335.1(188408-213995)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.174892 Transcribed sequence with weak similarity to protein more 76.81(n)    142013633 
    zebrafish
    (Danio rerio)
    Actinopterygii mtmr121 myotubularin related protein 12 59.14(n)
    53.84(a)
      569130  NM_001113613.1  NP_001107085.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG144116
    --
    25(a)
    1 → many
    X(14726671-14730295)


    ENSEMBL Gene Tree for MTMR12 (if available)
    TreeFam Gene Tree for MTMR12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MTMR12 gene
    MTMR72  MTMR42  MTMR22  MTMR102  MTM12  MTMR82  MTMR32  MTMR62  
    SBF22  MTMR92  MTMR112  SBF12  MTMR12  
    1 SIMAP similar gene for MTMR12 using alignment to 3 protein entries:     MTMRC_HUMAN (see all proteins):
    MTMR10

    Find genes that share paralogs with MTMR12           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for MTMR12
    PGOHUM00000242876


    (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 MTMR12 (see all 1779)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs761378281,2
    F--32226676(+) TTTAGC/ATCCCA 1 -- ds50011Minor allele frequency- A:0.03EA 120
    rs1862734031,2
    --32226686(+) ACTTAC/TGAGAA 1 -- ds50010--------
    rs1154001621,2
    F--32226762(+) ATGTTG/ACCGCA 1 -- ds50011Minor allele frequency- A:0.01NA 120
    rs1895315641,2
    C--32226885(+) TTGCTA/GTTGTG 1 -- ds50010--------
    rs18739231,2
    C,F,A--32226951(+) GTTATT/CGGTTC 1 -- ds50018Minor allele frequency- C:0.47WA NA CSA EA 366
    rs1385563041,2
    --32227071(+) TGAAAC/TGGATT 1 -- ds50010--------
    rs1814014461,2
    --32227104(+) CACCAA/GGTACA 1 -- ds50010--------
    rs1995636321,2
    C--32227249(+) TAAAG-/AAAAAA 1 -- ut310--------
    rs1865425111,2
    --32227462(+) AAATCA/CATTGA 1 -- ut310--------
    rs1905908871,2
    C--32227476(+) TTCTGC/TACACA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for MTMR12 (32227100 - 32313115 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for MTMR12:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2659915CNV Deletion23128226
    nsv10692CNV Loss18304495
    esv24020CNV Loss19812545
    dgv942n67CNV Loss20364138
    nsv10693CNV Gain18304495
    dgv203e55CNV Gain17911159
    dgv1792e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): MTMR12
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MTMR12
    DNA2.0 Custom Variant and Variant Library Synthesis for MTMR12

    (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: 606501    OMIM disorders: --

    1 disease for MTMR12:    
    About MalaCards
    cri-du-chat syndrome

    1 disease from the University of Copenhagen DISEASES database for MTMR12:
    Cri-Du-Chat syndrome

    Find genes that share disorders with MTMR12           About GenesLikeMe

    Genetic Association Database (GAD): MTMR12
    Human Genome Epidemiology (HuGE) Navigator: MTMR12 (1 document)

    Export disorders for MTMR12 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 MTMR12 gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with MTMR12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of an adapter subunit to a phosphatidylinositol (3)P 3-phosphatase: identification of a myotubularin-related protein lacking catalytic activity. (PubMed id 11504939)1, 2, 3, 9 Nandurkar H.H.... Mitchell C.A. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    2. Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP. (PubMed id 12847286)1, 2, 9 Nandurkar H.H.... Mitchell C.A. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease. (PubMed id 12495846)1, 3 Wishart M.J. and Dixon J.E. (Trends Cell Biol. 2002)
    6. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11214970)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    7. Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. (PubMed id 23818870)1 Gupta V.A....Beggs A.H. (PLoS Genet. 2013)
    8. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    10. Mutation screening of PDZD2, GOLPH3, and MTMR12 genes in patients with schizophrenia. (PubMed id 21451436)1 Ritter B.P....Bespalova I.N. (Psychiatr. Genet. 2012)

    (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: 54545 HGNC: 18191 AceView: PIP3AP Ensembl:ENSG00000150712 euGenes: HUgn54545
    ECgene: MTMR12 H-InvDB: MTMR12

    (According to HUGE)
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    HUGE: KIAA1682

    (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 MTMR12 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for MTMR12 gene:
    Search GeneIP for patents involving MTMR12

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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