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

MTMR9 Gene

protein-coding   GIFtS: 52
GCID: GC08P011141

myotubularin related protein 9

(Previous name: myotubularin related protein 8 )
(Previous symbols: C8orf9, MTMR8)
 Explore 10 diseases affiliated with
MTMR9 via our new
 Human Malady Compendium 
Biological research products
for MTMR9
    

(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 91 2     Myotubularin Related Protein 81 2
MTMR81 2 3 5     DKFZp434K1711
C8orf91 2 3     Myotubularin-Related Protein 92
LIP-STYX1 2     

External Ids:    HGNC: 145961   Entrez Gene: 660362   Ensembl: ENSG000001046437   OMIM: 6062605   UniProtKB: Q96QG73   

Export aliases for MTMR9 gene to outside databases

Previous GC identifers: GC08P011205 GC08P011135 GC08P011013 GC08P011179 GC08P010072


(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 MTMR9:
This gene encodes a myotubularin-related protein that is atypical to most other members of the myotubularin-related
protein family because it has no dual-specificity phosphatase domain. The encoded protein contains a double-helical
motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation. In
mouse, a protein similar to the encoded protein binds with MTMR7, and together they dephosphorylate
phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: MTMR9_HUMAN, Q96QG7
Function: Probable pseudophosphatase. Contains a Gly residue instead of a conserved Cys residue in the dsPTPase
catalytic loop which renders it catalytically inactive as a phosphatase (Potential)

Gene Wiki entry for MTMR9


(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_000008.10  NC_018919.1  NT_077531.4  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MTMR9 gene promoter:
         TBP   AML1a   POU3F1   Lmo2   STAT5A   POU3F2   GATA-1   c-Ets-1   NRF-2   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTMR9 promoter sequence
   Search SABiosciences Chromatin IP Primers for MTMR9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTMR9


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

Entrez Gene cytogenetic band: 8p23-p22   Ensembl cytogenetic band:  8p23.1   HGNC cytogenetic band: 8p23-p22

MTMR9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTMR9 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P011141:  view genomic region     (about GC identifiers)

Start:
11,141,925 bp from pter      End:
11,185,655 bp from pter
Size:
43,731 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: MTMR9_HUMAN, Q96QG7 (See protein sequence)
Recommended Name: Myotubularin-related protein 9  
Size: 549 amino acids; 63462 Da
Subunit: Interacts with MTMR6, MTMR7 and MTMR8
Subcellular location: Cytoplasm
Secondary accessions: Q52LU3 Q8WW11 Q96QG6 Q9NX50

Explore the universe of human proteins at neXtProt for MTMR9: NX_Q96QG7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96QG7

  • MTMR9 Protein expression data from MOPED and PaxDb:    About this image 
    MTMR9 Protein Expression
    REFSEQ proteins: NP_056273.2  
    ENSEMBL proteins: 
     ENSP00000221086   ENSP00000436046   ENSP00000433239  

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    Uscn Proteins for MTMR9

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    MTMR9 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

    MTMR9 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR017906 Myotubularin_phosphatase_dom
     IPR010569 Myotub-related
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q96QG7

    ProtoNet protein and cluster: Q96QG7

    1 Blocks protein family: IPB010569 Myotubularin-related

    UniProtKB/Swiss-Prot: MTMR9_HUMAN, Q96QG7
    Similarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily
    Similarity: Contains 1 myotubularin phosphatase domain


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MTMR9_HUMAN, Q96QG7
    Function: Probable pseudophosphatase. Contains a Gly residue instead of a conserved Cys residue in the dsPTPase
    catalytic loop which renders it catalytically inactive as a phosphatase (Potential)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12890864
    GO:0016791phosphatase activity IEA--
    GO:0030234enzyme regulator activity IEA--
         
    MTMR9 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MTMR9 

    miRNA
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    hsa-miR-26a-2* hsa-miR-607 hsa-miR-578 hsa-miR-3921 hsa-miR-4325 hsa-miR-149 hsa-miR-155* hsa-miR-556-3p
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTMR9


    (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



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MTMR9

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

    5/18 Interacting proteins for MTMR9 (Q96QG73 ENSP000002210864) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EMILIN1Q9Y6C23, ENSP000003696774I2D: score=4 STRING: ENSP00000369677
    MTMR8Q96EF03, ENSP000003639854I2D: score=4 STRING: ENSP00000363985
    MTMR7Q9Y2163, ENSP000001801734I2D: score=3 STRING: ENSP00000180173
    MTMR6Q9Y2173, ENSP000003712214I2D: score=4 STRING: ENSP00000371221
    SPG21Q9NZD83, ENSP000002045664I2D: score=4 STRING: ENSP00000204566
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0050790regulation of catalytic activity ----

    MTMR9 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 MTMR9
    Search CenterWatch for drugs/clinical trials and news about MTMR9 

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    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 MTMR9 gene: 
    NM_015458.3  

    Unigene Cluster for MTMR9:

    Myotubularin related protein 9
    Hs.591395  [show with all ESTs]
    Unigene Representative Sequence: NM_015458
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000221086(uc003wtm.3 uc010lrx.3 uc011kxa.2) ENST00000530200
    ENST00000526292 ENST00000528389

    miRNA
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    8/86 QIAGEN miScript miRNA Assays for microRNAs that regulate MTMR9 (see all 86):
    hsa-miR-26a-2* hsa-miR-607 hsa-miR-578 hsa-miR-3921 hsa-miR-4325 hsa-miR-149 hsa-miR-155* hsa-miR-556-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene shRNA RFP: MTMR9
    OriGene siRNA: MTMR9
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MTMR9
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    Additional cDNA sequence: 

    AF052099.1 AJ291676.1 AJ297823.1 AK000444.1 AK223525.1 AK294463.1 AK303543.1 AL080178.1 
    BC017985.1 BC022003.1 BC034990.2 BC093788.1 BC101623.1 BX538176.1 

    6 DOTS entries:

    DT.109630  DT.101978200  DT.97825382  DT.92046955  DT.112512  DT.91751527 

    24/153 AceView cDNA sequences (see all 153):

    BG028793 BE504298 AI422149 BG195041 BE698236 AL079416 AA720596 AA380660 
    AW025530 AI086268 AW629118 NM_015458 BX538176 BC034990 AI656160 BQ420790 
    AA904667 AJ297823 AA831688 AA418387 AW293844 AA897056 AL080178 AI333021 

    GeneLoc Exon Structure


    (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

    MTMR9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCTTATACAA
    MTMR9 Expression
    About this image
    See MTMR9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MTMR9

    SOURCE GeneReport for Unigene cluster: Hs.591395

    UniProtKB/Swiss-Prot: MTMR9_HUMAN, Q96QG7
    Tissue specificity: Expressed in many tissues

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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MTMR9 gene from 7/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves MTMR91 myotubularin related protein 9 76.66(n)
    82.63(a)
      422033  NM_001031101.1  NP_001026272.1 
    lizard
    (Anolis carolinensis)
    Reptilia MTMR96
    --
    88(a)
    1 ↔ 1
    GL343551.1(226758-249905)
    zebrafish
    (Danio rerio)
    Actinopterygii mtmr91 myotubularin related protein 9 72.98(n)
    81.97(a)
      565063  NM_001045070.1  NP_001038535.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG50261 CG5026 52.41(n)
    49.81(a)
      39026  NM_140014.3  NP_648271.3 
    worm
    (Caenorhabditis elegans)
    Secernentea mtm-91 Protein MTM-9 50.59(n)
    44.73(a)
      178790  NM_071637.3  NP_504038.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G045406
    MTM16
    Myotubularin-like phosphatases II-like protein
    18(a)
    16(a)
    many ↔ many
    many ↔ many
    5(1296442-1302444)
    3(3292899-3298522)
    rice
    (Oryza sativa)
    Liliopsida --
    inositol or phosphatidylinositol phosphatase/ phos...
    18(a)
    1 → many
    8(27856282-27865603)


    ENSEMBL Gene Tree for MTMR9 (if available)
    TreeFam Gene Tree for MTMR9 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MTMR9 gene
    MTMR42  MTMR72  MTMR122  MTMR22  MTMR102  MTM12  MTMR82  MTMR32  
    SBF22  MTMR62  MTMR112  SBF12  MTMR12  
    9 SIMAP similar genes for MTMR9 using alignment to 3 protein entries:     MTMR9_HUMAN (see all proteins):
    DKFZp434K171    MTM1    MTMR8    MTMR2    MTMR7    MTMR6
    MTMR1    MTMR3    MTMR4

    MTMR9 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for MTMR9
    PGOHUM00000243960 PGOHUM00000243184


    (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

    10/1124 NCBI SNPs in MTMR9 are shown (see all 1124    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1379397801,2
    --11140051(+) AGTGGA/GCCCAC 1 -- us2k10--------
    rs27363831,2
    C--11140181(+) TGTGAG/CGGTTA 1 -- us2k13Minor allele frequency- C:0.10NA WA 122
    rs1921237901,2
    --11140219(+) CTTCAA/GGTTCC 1 -- us2k10--------
    rs1122785421,2
    --11140288(+) TCTGTG/TTATGT 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1439760821,2
    --11140380(+) TCATCC/TTGTCA 1 -- us2k10--------
    rs1838695511,2
    --11140408(+) TCCATA/GCTTTT 1 -- us2k10--------
    rs1859127861,2
    --11140519(+) GATAGC/GGATGG 1 -- us2k10--------
    rs1136494881,2
    C--11140672(+) TGAAGC/TTCTGT 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs69852921,2
    C,A--11140699(+) TTCCCT/AGTATG 1 -- us2k14Minor allele frequency- A:0.29NA WA 124
    rs1903761071,2
    --11140706(+) TATGCA/GGTGTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MTMR9 (11141925 - 11185655 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 17 variations for MTMR9
         1 CNV: 47971
         15/16 Inversions (see all 16): 37318 37316 37307 37317 37311 37319 37320 37315 37312 37321 37304 37313 37314 37305 37306
    Human Gene Mutation Database (HGMD): MTMR9

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MTMR9
    DNA2.0 Custom Variant and Variant Library Synthesis for MTMR9

    (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

    MTMR9 for disorders           About GeneDecksing

    OMIM gene information: 606260    OMIM disorders: --

    10 diseases for MTMR9:    About MalaCards
    keratolytic winter erythema    generalized epilepsy with febrile seizures plus    febrile seizures    generalized epilepsy
    ductal carcinoma in situ    esophagus adenocarcinoma    seizures    obesity
    carcinoma    adenocarcinoma

    Human Genome Epidemiology (HuGE) Navigator: MTMR9 (3 documents)

    Export disorders for MTMR9 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 MTMR9 gene, integrated from 9 sources (see all 29):
    (articles sorted by number of sources associating them with MTMR9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and localization of a new human myotubularin-related protein gene, MTMR8, on 8p22-p23. (PubMed id 11472061)1, 2, 3, 9 Appel S....Hennies H.C. (2001)
    2. Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759. (PubMed id 11896452)1, 3, 9 Appel S.... Rosenthal A. (2002)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9. (PubMed id 12890864)1, 3 Mochizuki Y. and Majerus P.W. (2003)
    6. MTMR9 increases MTMR6 enzyme activity, stability, and role in apoptosis. (PubMed id 19038970)1, 9 Zou J....Majerus P.W. (2009)
    7. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    8. Association of variations in the FTO, SCG3 and MTMR9 g enes with metabolic syndrome in a Japanese population. (PubMed id 21796137)1 Hotta K....Sekine A. (2011)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 66036 HGNC: 14596 AceView: MTMR9 Ensembl:ENSG00000104643 euGenes: HUgn66036
    ECgene: MTMR9 H-InvDB: MTMR9

    (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 MTMR9 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 MTMR9 gene:
    Search GeneIP for patents involving MTMR9

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