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

MUC13 Gene

protein-coding   GIFtS: 53
GCID: GC03M124651

mucin 13, cell surface associated

(Previous names: down-regulated in colon cancer 1, mucin 13, epithelial...)
(Previous symbol: DRCC1)
 Explore 5 diseases affiliated with
MUC13 via our new
 Human Malady Compendium 
Biological research products
for MUC13
    

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

Aliases
Mucin 13, Cell Surface Associated1 2     MUC-132 3
Down-Regulated In Colon Cancer 11 2 3     Mucin-131
DRCC11 2 3     RECC3
Mucin 13, Epithelial Transmembrane1 2     

External Ids:    HGNC: 75111   Entrez Gene: 566672   Ensembl: ENSG000001737027   OMIM: 6121815   UniProtKB: Q9H3R23   

Export aliases for MUC13 gene to outside databases

Previous GC identifers: GC03P186200 GC03M125905 GC03M125946 GC03M125947 GC03M126106 GC03M121998


(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 MUC13:
Epithelial mucins, such as MUC13, are a family of secreted and cell surface glycoproteins expressed by ductal and
glandular epithelial tissues (Williams et al., 2001 (PubMed 11278439)).(supplied by OMIM, Jul 2008)

UniProtKB/Swiss-Prot: MUC13_HUMAN, Q9H3R2
Function: Epithelial and hemopoietic transmembrane mucin that may play a role in cell signaling




(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_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MUC13 gene promoter:
         STAT5B   POU3F1   MyoD   STAT5A   CUTL1   HNF-4alpha2   GATA-1   HNF-4alpha1   E47   ARP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMUC13 promoter sequence
   Search SABiosciences Chromatin IP Primers for MUC13

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MUC13


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

Entrez Gene cytogenetic band: 3q21.2   Ensembl cytogenetic band:  3q21.2   HGNC cytogenetic band: 3q21.2

MUC13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MUC13 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M124651:  view genomic region     (about GC identifiers)

Start:
124,624,289 bp from pter      End:
124,672,663 bp from pter
Size:
48,375 bases      Orientation:
minus 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: MUC13_HUMAN, Q9H3R2 (See protein sequence)
Recommended Name: Mucin-13 precursor  
Size: 511 amino acids; 54517 Da
Subunit: Homodimer of beta subunits
Subcellular location: Cell membrane; Single-pass type I membrane protein. Apical cell membrane. Secreted. Note=Also
exists as a soluble form
Sequence caution: Sequence=BAA90925.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q6UWD9 Q9NXT5

Explore the universe of human proteins at neXtProt for MUC13: NX_Q9H3R2

Post-translational modifications:

  • Cleaved into two subunits, alpha and beta, probably between the first EGF domain and the SEA domain. Beta subunit
  • contains the cytoplasmic tail and alpha subunit the extracellular tail. The homooligomerization into dimers is
    dependent on intrachain disulfide bonds1
  • Highly N-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H3R2

  • MUC13 Protein expression data from MOPED and PaxDb:    About this image 
    MUC13 Protein Expression
    REFSEQ proteins: NP_149038.3  
    ENSEMBL proteins: 
     ENSP00000312235   ENSP00000418660  
    Reactome Protein details: Q9H3R2
    Human Recombinant Protein Products for MUC13: 
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    Uscn Proteins for MUC13

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005796Golgi lumen TAS--
    GO:0005886plasma membrane ----
    GO:0016021integral to membrane IEA--
    GO:0016324apical plasma membrane IEA--

    MUC13 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

    MUC13 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR000082 SEA
     IPR000742 EG-like_dom
     IPR013032 EGF-like_CS

    Graphical View of Domain Structure for InterPro Entry Q9H3R2

    ProtoNet protein and cluster: Q9H3R2

    1 Blocks protein family: IPB000082 SEA domain

    UniProtKB/Swiss-Prot: MUC13_HUMAN, Q9H3R2
    Similarity: Contains 3 EGF-like domains
    Similarity: Contains 1 SEA 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: MUC13_HUMAN, Q9H3R2
    Function: Epithelial and hemopoietic transmembrane mucin that may play a role in cell signaling

    Animal Models:

       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MUC13 

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    Inhib. RNA
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    (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  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Addition of GalNAc to the Tn antigen via an alpha-1,6 linkage forms a Core 7 glycoprotein
    Addition of GalNAc to the Tn antigen via an alpha-1,6 linkage forms a Core 7 glycoprotein1.00
    Addition of GlcNAc to the Tn antigen via a beta-1,6 linkage forms a Core 6 glycoprotein1.00
    Addition of galactose to the Tn antigen via an alpha-1,3 linkage forms a Core 8 glycoprotein1.00
    Termination of O-glycan biosynthesis0.69
    Addition of GlcNAc to the Tn antigen via an alpha-1,3 linkage forms a Core 5 glycoprotein1.00
    O-linked glycosylation of mucins0.28
    2Asparagine N-linked glycosylation
    Post-translational protein modification0.44
    Metabolism of proteins0.15

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/8        Reactome Pathways for MUC13 (see all 8)
        Addition of GalNAc to the Tn antigen via an alpha-1,6 linkage forms a Core 7 glycoprotein
    O-linked glycosylation of mucins
    Metabolism of proteins
    Post-translational protein modification
    Addition of galactose to the Tn antigen via an alpha-1,3 linkage forms a Core 8 glycoprotein



    MUC13 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MUC13

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/45 Interacting proteins for MUC13 (Q9H3R23 ENSP000003122354) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CFTRP135693, ENSP000000030844I2D: score=1 STRING: ENSP00000003084
    GALNT14Q96FL93, ENSP000002889884I2D: score=1 STRING: ENSP00000288988
    C1GALT1ENSP000002231224STRING: ENSP00000223122
    GALNT1ENSP000002691954STRING: ENSP00000269195
    GALNT10ENSP000002971074STRING: ENSP00000297107
    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:0016266O-glycan processing TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--

    MUC13 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 MUC13
    Search CenterWatch for drugs/clinical trials and news about MUC13 

    (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 MUC13 gene: 
    NM_033049.3  

    Unigene Cluster for MUC13:

    Mucin 13, cell surface associated
    Hs.5940  [show with all ESTs]
    Unigene Representative Sequence: AY358831
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000311075(uc003ehq.2) ENST00000462728 ENST00000478191 ENST00000490147
    ENST00000497378

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    Additional cDNA sequence: 

    AB035807.1 AF286113.1 AK000070.1 AY358831.1 

    6 DOTS entries:

    DT.75102661  DT.100816391  DT.75102663  DT.91708411  DT.120916907  DT.95175079 

    24/151 AceView cDNA sequences (see all 151):

    AW848659 AW848432 AI828388 AI280846 BM765940 AA601073 BQ317580 AI821845 
    BM836440 BX483818 D25711 AI791951 BG400769 BM829146 AK000070 AA582019 
    CB145364 CB120482 AW848177 NM_033049 AW848580 AW376582 BM821562 CA428668 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MUC13    About this scheme

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


    ECgene alternative splicing isoforms for MUC13

    (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

    MUC13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCCTCCCGAA
    MUC13 Expression
    About this image

    MUC13 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    Yolk SacDefinitive Yolk SacDefinitive Hematopoietic Stem CellsBlood
    Gut TubeMidgutGut Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See MUC13 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MUC13

    SOURCE GeneReport for Unigene cluster: Hs.5940

    UniProtKB/Swiss-Prot: MUC13_HUMAN, Q9H3R2
    Tissue specificity: Highly expressed in epithelial tissues, particularly those of the gastrointestinal and respiratory
    tracts, such as large intestine and trachea, followed by kidney, small intestine, appendix and stomach

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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 chordates.

    Orthologs for MUC13 gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves LOC1008592231 uncharacterized LOC100859223 46.24(n)
    34.62(a)
      100859223  XM_003641585.1  XP_003641633.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CR388126.16
    zgc:1751316
    zgc:175131
    9(a)
    16(a)
    1 ↔ many
    1 ↔ many
    3(38700212-38740107)
    12(17177970-17193993)


    ENSEMBL Gene Tree for MUC13 (if available)
    TreeFam Gene Tree for MUC13 (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 NCBI SNPs in MUC13 are shown     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2013978581,2
    --124624065(+) CAACA-/ACAAAAA 1 -- int10--------
    rs681522171,2
    C--124624066(-) TTTTT-/GTTGTT 1 -- int12Minor allele frequency- G:0.00NA CSA 4
    rs1126065691,2
    C--124624066(+) AACAAA/CAAAAA 1 -- int11Minor allele frequency- C:0.00CSA 1
    rs1423172381,2
    C--124626528(+) AGAGA-/GTTGCCT 1 -- int10--------
    rs124957111,2
    C,F,A,H--124644757(+) ATGCTC/TGGCTT 1 -- int13Minor allele frequency- T:0.40NA 10
    rs347553481,2
    C,F--124649196(+) TACGA-/TTTTTT 1 -- int14Minor allele frequency- T:0.38NA CSA 8
    rs626684611,2
    C--124654522(+) TTAAG-/TTTTTTT 1 -- us2k11Minor allele frequency- TT:0.00NA 2
    rs1120193801,2
    ----124646704(+) GGAAAGAA/-GGTGT 1 /FS cds12Minor allele frequency- -:0.00CSA 8
    rs1472331461,2
    ----124654522(+) TTTTT-/TTGAGAC 1 -- us2k10--------
    rs581843251,2
    ----124628362(+) GTGTG-/TGT   
       ATGTG
    AGACA
    1 -- int10--------

    HapMap Linkage Disequilibrium report for MUC13 (124624289 - 124672663 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for MUC13
         1 Indel: 22427
    Human Gene Mutation Database (HGMD): MUC13

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MUC13
    DNA2.0 Custom Variant and Variant Library Synthesis for MUC13

    (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

    MUC13 for disorders           About GeneDecksing

    OMIM gene information: 612181    OMIM disorders: --

    5 diseases for MUC13:    About MalaCards
    colon cancer    inflammatory bowel disease    laryngitis    ovarian cancer
    gastric cancer


    Export disorders for MUC13 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 MUC13 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with MUC13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Muc13, a novel human cell surface mucin expressed by epithelial and hemopoietic cells. (PubMed id 11278439)1, 2, 3, 9 Williams S.J....McGuckin M.A. (2001)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    4. MUC13 mucin augments pancreatic tumorigenesis. (PubMed id 22027689)1 Chauhan S.C....Jaggi M. (2012)
    5. 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)
    6. Increased expression and aberrant localization of muci n 13 in metastatic colon cancer. (PubMed id 22914648)1 Gupta B.K....Chauhan S.C. (2012)
    7. Mucin 13: structure, function, and potential roles in cancer pathogenesis. (PubMed id 21450906)1 Maher D.M....Chauhan S.C. (2011)
    8. Expression and functions of transmembrane mucin MUC13 in ovarian cancer. (PubMed id 19176398)1 Chauhan S.C....Jaggi M. (2009)
    9. Mucin gene expression in human laryngeal epithelia: effect of laryngopharyngeal reflux. (PubMed id 18834073)1 Samuels T.L....Johnston N. (2008)
    10. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 56667 HGNC: 7511 AceView: MUC13 Ensembl:ENSG00000173702 euGenes: HUgn56667
    ECgene: MUC13 H-InvDB: MUC13

    (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 MUC13 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MUC13 Genetics and Cytogenetics in Oncology and Haematology
    Mucin databasehttp://www.medkem.gu.se/mucinbiology/databases/

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MUC13 gene:
    Search GeneIP for patents involving MUC13

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