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

MTPN Gene

protein-coding   GIFtS: 49
GCID: GC07M135613

myotrophin

 Explore 7 diseases affiliated with
MTPN via our new
 Human Malady Compendium 
Biological research products
for MTPN
    

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

Aliases
MYOTROPHIN1
Myotrophin1
GCDP1 2
V-11 2
Protein V-12 3
Granule Cell Differentiation Protein2

External Ids:    HGNC: 156671   Entrez Gene: 1363192   Ensembl: ENSG000001058877   OMIM: 6064845   UniProtKB: P585463   

Export aliases for MTPN gene to outside databases

Previous GC identifers: GC07U990334 GC07M133953 GC07M135013 GC07M135027 GC07M135068 GC07M135262


(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 MTPN:
The transcript produced from this gene is bi-cistronic and can encode both myotrophin and leucine zipper protein 6. The
myotrophin protein is associated with cardiac hypertrophy, where it is involved in the conversion of NFkappa B p50-p65
heterodimers to p50-p50 and p65-p65 homodimers. This protein also has a potential function in cerebellar
morphogenesis, and it may be involved in the differentiation of cerebellar neurons, particularly of granule cells. A
cryptic ORF at the 3' end of this transcript uses a novel internal ribosome entry site and a non-AUG translation
initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with
myeloproliferative disease. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: MTPN_HUMAN, P58546
Function: Promotes dimerization of NF-kappa-B subunits and regulates NF-kappa-B transcription factor activity (By
similarity). Plays a role in the regulation of the growth of actin filaments. Inhibits the activity of the
F-actin-capping protein complex formed by the CAPZA1 and CAPZB heterodimer. Promotes growth of cardiomyocytes, but not
cardiomyocyte proliferation. Promotes cardiac muscle hypertrophy

Gene Wiki entry for MTPN


(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_000007.13  NC_018918.1  NT_007933.15  NT_079596.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MTPN
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): MTPN promoter sequence
   Search SABiosciences Chromatin IP Primers for MTPN

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


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

Entrez Gene cytogenetic band: 7q33   Ensembl cytogenetic band:  7q33   HGNC cytogenetic band: 7q33-q35

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

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M135613:  view genomic region     (about GC identifiers)

Start:
135,611,503 bp from pter      End:
135,662,204 bp from pter
Size:
50,702 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 134,955,940-135,006,645     

(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: MTPN_HUMAN, P58546 (See protein sequence)
Recommended Name: Myotrophin  
Size: 118 amino acids; 12895 Da
Subunit: Interacts with RELA (By similarity). Interacts with the heterodimer formed by CAPZA1 and CAPZB
Subcellular location: Cytoplasm (Probable). Nucleus (By similarity). Cytoplasm, perinuclear region (By similarity)
Miscellaneous: This protein is produced by a bicistronic gene which also produces the MPD6 protein from a
non-overlapping reading frame. MPD6 belongs to a group of cryptic antigens without conventional genomic structure. It
is encoded by a cryptic open reading frame located in the 3'-untranslated region of MTPN
1 PDB 3D structure from and Proteopedia for MTPN:
3AAA (3D)    

Explore the universe of human proteins at neXtProt for MTPN: NX_P58546

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P58546

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

    REFSEQ proteins: NP_665807.1  
    ENSEMBL proteins: 
     ENSP00000376800   ENSP00000388321  

    Human Recombinant Protein Products: 
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    Uscn Proteins for MTPN

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm ----
    GO:0005829cytosol ISS--
    GO:0008290F-actin capping protein complex IDA16895918


    MTPN 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

    MTPN for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR020683 Ankyrin_rpt-contain_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry P58546

    ProtoNet protein and cluster: P58546

    1 Blocks protein family: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: MTPN_HUMAN, P58546
    Similarity: Belongs to the myotrophin family
    Similarity: Contains 3 ANK repeats


    (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: MTPN_HUMAN, P58546
    Function: Promotes dimerization of NF-kappa-B subunits and regulates NF-kappa-B transcription factor activity (By
    similarity). Plays a role in the regulation of the growth of actin filaments. Inhibits the activity of the
    F-actin-capping protein complex formed by the CAPZA1 and CAPZB heterodimer. Promotes growth of cardiomyocytes, but not
    cardiomyocyte proliferation. Promotes cardiac muscle hypertrophy
    Induction: Up-regulated in heart left ventricle of patients with severe coronary artery disease and history of
    myocardial ischemia. Up-regulated in heart left ventricle of patients with dilated cardiomyopathy

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MTPN
    8/118 QIAGEN miScript miRNA Assays for microRNAs that regulate MTPN (see all 118):
    hsa-miR-140-5p hsa-miR-323-3p hsa-miR-548j hsa-miR-200a hsa-miR-605 hsa-miR-4275 hsa-miR-3162-5p hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmidMTPN 3' UTR sequence
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----


    MTPN for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for MTPN:
     G0/1 arrest  Increased G1 DNA content 


    (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 MTPN

    5/21 Interacting proteins for MTPN (P585463) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK1P284823I2D: score=3 
    CAPZBP477563I2D: score=2 
    DSTYKQ6XUX33I2D: score=2 
    NFKB1P198383I2D: score=2 
    RELAQ042063I2D: score=2 
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006417regulation of translation NAS12031792
    GO:0006584catecholamine metabolic process IEA--
    GO:0010557positive regulation of macromolecule biosynthetic process ISS--
    GO:0010613positive regulation of cardiac muscle hypertrophy IMP10329199
    GO:0016049cell growth IDA10329199


    MTPN 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

    MTPN for compounds           About GeneDecksing

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

    Browse Tocris compounds for MTPN
    2 Novoseek chemical compound relationships for MTPN gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leucine 30.8 4 9633917 (3), 7758156 (1)
    tyrosine 0 2 9633917 (2)

    Search CenterWatch for drugs/clinical trials and news about MTPN 

    (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, 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 MTPN gene: 
    NM_145808.3  

    Unigene Cluster for MTPN:

    Myotrophin
    Hs.602015  [show with all ESTs]
    Unigene Representative Sequence: NM_145808
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000393085(uc003vte.4 uc010lmv.3) ENST00000435723

    miRNA
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    8/118 QIAGEN miScript miRNA Assays for microRNAs that regulate MTPN (see all 118):
    hsa-miR-140-5p hsa-miR-323-3p hsa-miR-548j hsa-miR-200a hsa-miR-605 hsa-miR-4275 hsa-miR-3162-5p hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmidMTPN 3' UTR sequence
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    Additional cDNA sequence: 

    AF106075.1 AF130088.2 AK055660.1 AK056225.1 AK309816.1 AL110137.1 AL834231.1 AY611627.1 
    BC028093.1 BC034722.1 

    16 DOTS entries:

    DT.448286  DT.100011161  DT.100798496  DT.95255802  DT.100798500  DT.100798503  DT.101971329  DT.95074637 
    DT.100798505  DT.102829456  DT.121041651  DT.40219617  DT.120826889  DT.121014771  DT.121041665  DT.454633 

    24/642 AceView cDNA sequences (see all 642):

    AI818116 BP374229 BQ434108 T63872 AA364083 BQ212884 AA293560 AL110137 
    AA385817 BU735373 BU182703 BM852563 CR599361 AA337068 AA714200 BM476367 
    BQ438171 CB242363 CA448801 BI093491 AW304152 CR625657 AA486946 BU183734 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for MTPN    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b
    SP1:                                    
    SP2:              -     -               


    ECgene alternative splicing isoforms for MTPN

    (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

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

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

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

    SOURCE GeneReport for Unigene cluster: Hs.602015

    UniProtKB/Swiss-Prot: MTPN_HUMAN, P58546
    Tissue specificity: Ubiquitous

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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 MTPN gene from 7/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mtpn1 , 5 myotrophin1, 5 97.46(n)1
    99.15(a)1
      6 (15.27 cM)5
    144891  NM_008098.41  NP_032124.11 
     355089065 
    chicken
    (Gallus gallus)
    Aves MTPN1 myotrophin 90.68(n)
    97.46(a)
      395702  NM_204886.1  NP_990217.1 
    lizard
    (Anolis carolinensis)
    Reptilia MTPN6
    --
    84(a)
    1 ↔ 1
    GL343602.1(189480-197300)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.50942 Xenopus laevis transcribed sequence with weak similarity more 83.23(n)    BJ072987.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa10f072 Danio rerio cDNA clone MGC64078 IMAGE6794528, complete more 74.66(n)    BC054609.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG317151 CG31715 60.82(n)
    51.75(a)
      318909  NM_164917.1  NP_723568.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C43H6.31 Protein C43H6.3 51.99(n)
    44.04(a)
      180545  NM_076036.4  NP_508437.1 


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

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

    (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

    10/872 NCBI SNPs in MTPN are shown (see all 872    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs757186031,2
    F,--135611004(+) CTAACA/GAGATT 2 -- ds50011Minor allele frequency- G:0.06WA 118
    rs762051981,2
    C,--135611085(+) AAATT-/AAACACT 2 -- ds50010--------
    rs1835655251,2
    --135611186(+) AACCAC/TGACTC 2 -- ds50010--------
    rs785659861,2
    C,F,--135611254(+) GCTCCC/TCGTCA 2 -- ds50011Minor allele frequency- T:0.03EA 120
    rs171685231,2
    C,F,H,--135611293(+) AACAAT/GGTCAG 2 -- ds500120Minor allele frequency- G:0.07NA NS EA CSA 2374
    rs1893207731,2
    --135611696(+) CATTAA/CCGCTT 2 -- ut310--------
    rs1809795611,2
    --135611697(+) ATTACA/CGCTTA 2 -- ut310--------
    rs1404294971,2
    --135611754(+) TTAAAC/TTTTTT 2 -- ut310--------
    rs750537191,2
    F,--135611767(+) ATTTTG/CCATGC 2 -- ut311Minor allele frequency- C:0.02EA 120
    rs1438550671,2
    C,--135611884(+) ATTAG-/AAAAAA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for MTPN (135611503 - 135662204 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MTPN: --

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MTPN for disorders           About GeneDecksing

    OMIM gene information: 606484    OMIM disorders: --

    7 diseases for MTPN:    About MalaCards
    muscle hypertrophy    dilated cardiomyopathy    neuronitis    cardiomyopathy
    ischemia    hypertension    pancreatitis

    4 Novoseek disease relationships for MTPN gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cardiac hypertrophy 73.3 17 14970239 (3), 18693253 (2), 9634699 (2), 10329199 (2) (see all 9)
    hypertrophy 59.3 15 15532712 (2), 14970239 (2), 8428777 (2), 9633917 (1) (see all 10)
    heart failure 40.6 12 14970239 (4), 12932609 (2), 15946807 (1), 15385543 (1) (see all 6)
    ventricular hypertrophy 25.1 3 10329199 (1), 11023986 (1)

    Genetic Association Database (GAD): MTPN

    Export disorders for MTPN 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 MTPN gene, integrated from 9 sources (see all 58):
    (articles sorted by number of sources associating them with MTPN)
        Utopia: connect your pdf to the dynamic
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    1. cDNA sequence and characterization of the gene that encodes human myotrophin/V-1 protein, a mediator of cardiac hypertrophy. (PubMed id 10329199)1, 2, 9 Anderson K.M.... Chabot-Fletcher M. (1999)
    2. Assignment of myotrophin to human chromosome band 7q33-->q35 by in situ hybridization. (PubMed id 11474205)1, 3, 9 Mitra S....Sen S. (2001)
    3. Binding of myotrophin/V-1 to actin-capping protein: implications for how capping protein binds to the filament barbed end. (PubMed id 16895918)1, 2 Bhattacharya N....Cooper J.A. (2006)
    4. 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)
    5. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    6. Myotrophin in human cardiomyopathic heart. (PubMed id 8508536)1, 9 Sil P....Sen S. (1993)
    7. Myotrophin in human heart failure. (PubMed id 12932609)4, 9 O'Brien R.J....Ng L.L. (2003)
    8. Cardiac myotrophin exhibits rel/NF-kappa B interacting activity in vitro. (PubMed id 8576259)1, 9 Sivasubramanian N....Sen S. (1996)
    9. Myotrophin induces early response genes and enhances cardiac gene expression. (PubMed id 8428777)1, 9 Mukherjee D.P....Sen S. (1993)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 136319 HGNC: 15667 AceView: MTPN Ensembl:ENSG00000105887 euGenes: HUgn136319
    ECgene: MTPN H-InvDB: MTPN

    (According to HUGE)
    About This Section
      --

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

    (Patent information from GeneIP,
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    Patent Information for MTPN gene:
    Search GeneIP for patents involving MTPN

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