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

MUC12 Gene

protein-coding   GIFtS: 48
GCID: GC07P100612

mucin 12, cell surface associated

(Previous name: mucin 11 )
(Previous symbol: MUC11)
 Explore 11 diseases affiliated with
MUC12 via our new
 Human Malady Compendium 
Biological research products
for MUC12
    

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

Aliases
Mucin 12, Cell Surface Associated1 2     MUC-122 3
MUC111 2 3 5     Mucin-113
Mucin 111 2     Mucin-121
MUC-112 3     Mucin-113

External Ids:    HGNC: 75101   Entrez Gene: 100712   Ensembl: ENSG000002052777   OMIM: 6046095   UniProtKB: Q9UKN13   

Export aliases for MUC12 gene to outside databases

Previous GC identifers: GC07P099131 GC07P100194 GC07P100208 GC07P100240 GC07P100429 GC07P095191


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: MUC12_HUMAN, Q9UKN1
Function: Involved in epithelial cell protection, adhesion modulation, and signaling. May be involved in epithelial
cell growth regulation. Stimulated by both cytokine TNF-alpha and TGF-beta in intestinal epithelium




(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 MUC12
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for MUC12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MUC12


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

Entrez Gene cytogenetic band: 7q22   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q22

MUC12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MUC12 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P100612:  view genomic region     (about GC identifiers)

Start:
100,612,904 bp from pter      End:
100,662,230 bp from pter
Size:
49,327 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 99,971,293-100,020,619     

(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: MUC12_HUMAN, Q9UKN1 (See protein sequence)
Recommended Name: Mucin-12 precursor  
Size: 5478 amino acids; 558164 Da
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)
Miscellaneous: Infection by L.monocytogenes induces increases in mucin secretion and MUC4 and MUC12 transcription. This
may constitute a host cell defense response that inhibits the entry of listeria monocytogenes in the cell
Secondary accessions: A6ND38 Q9UKN0

Explore the universe of human proteins at neXtProt for MUC12: NX_Q9UKN1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UKN1

  • MUC12 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001157934.1  
    ENSEMBL proteins: 
     ENSP00000368755   ENSP00000306919   ENSP00000441929  
    Reactome Protein details: Q9UKN1
    Human Recombinant Protein Products: 
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    Uscn Proteins for MUC12

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005796Golgi lumen TAS--
    GO:0005887integral to plasma membrane NAS10463611


    MUC12 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

    MUC12 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR000082 SEA
     IPR013032 EGF-like_CS

    Graphical View of Domain Structure for InterPro Entry Q9UKN1

    ProtoNet protein and cluster: Q9UKN1

    1 Blocks protein family: IPB000082 SEA domain

    UniProtKB/Swiss-Prot: MUC12_HUMAN, Q9UKN1
    Domain: The proteolytic cleavage occurs within the SEA domain. This domain is not interchangeable, suggesting that it
    is insufficient to mediate efficient cleavage
    Similarity: Contains 1 EGF-like domain
    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,
    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: MUC12_HUMAN, Q9UKN1
    Function: Involved in epithelial cell protection, adhesion modulation, and signaling. May be involved in epithelial
    cell growth regulation. Stimulated by both cytokine TNF-alpha and TGF-beta in intestinal epithelium
    Induction: By listeriolysin O

         Genatlas biochemistry entry for MUC12:
    mucin 12,cell surface glycoprotein,expressed in colon,down-regulated in colorectal cancer,maybe involved in epithelial
    cell regulation

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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:0003674molecular_function ND--


    MUC12 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for MUC12:
     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

    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 MUC12 (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



    MUC12 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MUC12

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

    5/47 Interacting proteins for MUC12 (Q9UKN13 ENSP000003687554) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDC42P609533, ENSP000003144584I2D: score=1 STRING: ENSP00000314458
    MAPK14Q165393, ENSP000002297944I2D: score=1 STRING: ENSP00000229794
    GALNT1ENSP000002691954STRING: ENSP00000269195
    GALNT10ENSP000002971074STRING: ENSP00000297107
    GALNT14ENSP000002889884STRING: ENSP00000288988
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001558regulation of cell growth NAS10463611
    GO:0016266O-glycan processing TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--


    MUC12 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 MUC12
    Search CenterWatch for drugs/clinical trials and news about MUC12 

    (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 MUC12 gene: 
    NM_001164462.1  

    Unigene Cluster for MUC12:

    Mucin 12, cell surface associated
    Hs.489355  [show with all ESTs]
    Unigene Representative Sequence: NM_001164462
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379442 ENST00000305119 ENST00000473098 ENST00000467414 ENST00000474482
    ENST00000536621(uc003uxo.3)

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    Additional cDNA sequence: 

    AF147790.1 AF147791.1 AK024856.1 AK025404.1 AK130455.1 AK296627.1 BC127877.1 BC152481.1 
    BC152482.1 

    24/31 DOTS entries (see all 31):

    DT.95151723  DT.86855004  DT.86846562  DT.95364743  DT.97859163  DT.435400  DT.95121454  DT.91690847 
    DT.95264785  DT.91918837  DT.95362898  DT.100743021  DT.100811954  DT.91734436  DT.95309254  DT.121071776 
    DT.92440543  DT.95070709  DT.95332859  DT.95358994  DT.100036266  DT.100811955  DT.121071780  DT.121071790 

    24/216 AceView cDNA sequences (see all 216):

    BG959491 AI732436 BQ719224 AF147790 BM987949 BX104713 BG982489 AW849376 
    AW849507 AW849669 AI763064 BG982490 BE927962 BG956076 AW843883 BE550265 
    BG983049 AI954628 BF804409 AW938895 AI342785 BF768293 AW572433 BG978643 

    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

    MUC12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCAGCTGCAA

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

    About this image
    See MUC12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MUC12

    SOURCE GeneReport for Unigene cluster: Hs.489355

    UniProtKB/Swiss-Prot: MUC12_HUMAN, Q9UKN1
    Tissue specificity: Ubiquitous, with higher expression in colon. Down-regulated in colorectal cancer as well as in the
    colon of patients with ulcerative colitis (UC) and Crohn's disease (CD)

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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 MUC12 gene from 3/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5663631 mucin-17-like 42.11(n)
    34.85(a)
      566363  XM_701288.4  XP_706380.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sgs16
    Salivary gland secretion 1
    17(a)
    1 ↔ 1
    2L(4937409-4941424)
    worm
    (Caenorhabditis elegans)
    Secernentea F26C11.36
    Uncharacterized protein F26C11.3
    7(a)
    possible ortholog
    II(9903000-9915040)


    ENSEMBL Gene Tree for MUC12 (if available)
    TreeFam Gene Tree for MUC12 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MUC12 gene
    LOC1001315142  MUC162  MUC3A2  MUC172  MUC222  
    3 SIMAP similar genes for MUC12 using alignment to 5 protein entries:     MUC12_HUMAN (see all proteins):
    MUC17    MUC4    MUC3A

    MUC12 for paralogs           About GeneDecksing



    (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

    10/1338 NCBI SNPs in MUC12 are shown (see all 1338    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs38922901,2
    C,F,--100612122(-) GGCAGA/C/GCCTGA 1 -- us2k14NA CSA 8
    rs737142881,2
    C,F,--100612140(+) TCGAGG/AGTGAT 1 -- us2k14Minor allele frequency- A:0.50WA NA CSA 8
    rs773490681,2
    C,F,--100612174(+) TCTTTG/TGGTGT 1 -- us2k15Minor allele frequency- T:0.50NA WA CSA 10
    rs712527871,2
    C,F--100612188(-) CCTCTG/CCCAAG 1 -- us2k12Minor allele frequency- C:0.50NA 4
    rs748725521,2
    C,--100612199(+) CCCCTG/TTGATC 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs737142891,2
    C,F,,--100612233(+) ATGGCC/ATTTCG 1 -- us2k12Minor allele frequency- A:0.50WA NA 4
    rs731683161,2
    C,,--100612237(+) CATTTC/TGTCAC 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs674608611,2
    C,F,--100612269(+) GGGACC/AAGGAC 1 -- us2k13Minor allele frequency- A:0.50WA NA CSA 6
    rs1815314131,2
    --100612273(+) CCAGGA/TCCATA 1 -- us2k10--------
    rs731683171,2
    C,F,,--100612285(+) AGTCTG/CAGGTG 1 -- us2k12Minor allele frequency- C:0.50NA CSA 4

    HapMap Linkage Disequilibrium report for MUC12 (100612904 - 100662230 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 22 variations for MUC12
         15/21 CNVs (see all 21): 82114 36583 94751 32940 94752 0617 94753 64905 70014 82115 31381 94750 36582 3692 94755
         1 Indel: 70015

    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

    MUC12 for disorders           About GeneDecksing

    OMIM gene information: 604609    OMIM disorders: --

    11 diseases for MUC12:    About MalaCards
    otitis media    inflammatory bowel disease    ulcerative colitis    gastric cancer
    crohn's disease    laryngitis    peritonitis    colorectal cancer
    pneumonia    adenocarcinoma    malaria

    2 Novoseek disease relationships for MUC12 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gastric cancer 40.4 1 17387567 (1)
    tumors 0 2 10463611 (2)


    Export disorders for MUC12 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 MUC12 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with MUC12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Two novel mucin genes down-regulated in colorectal cancer identified by differential display. (PubMed id 10463611)1, 2, 3, 9 Williams S.J....Antalis T.M. (1999)
    2. A human MAP kinase interactome. (PubMed id 20936779)1 Bandyopadhyay S....Ideker T. (2010)
    3. MUC12 mRNA expression is an independent marker of pro gnosis in stage II and stage III colorectal cancer. (PubMed id 20162577)1 Matsuyama T....Sugihara K. (2010)
    4. Mucin gene expression in human laryngeal epithelia: effect of laryngopharyngeal reflux. (PubMed id 18834073)1 Samuels T.L....Johnston N. (2008)
    5. Aberrant intestinal expression and allelic variants of mucin genes associated with inflammatory bowel disease. (PubMed id 17058067)2 Moehle C....Schmitz G. (2006)
    6. The role of the SEA (sea urchin sperm protein, enterokinase and agrin) module in cleavage of membrane-tethered mucins. (PubMed id 15943821)2 Palmai-Pallag T.... Harris A. (2005)
    7. The increase in mucin exocytosis and the upregulation of MUC genes encoding for membrane-bound mucins induced by the thiol-activated exotoxin listeriolysin O is a host cell defence response that inhibits the cell-entry of Listeria monocytogenes. (PubMed id 15953034)2 Lievin-Le Moal V.... Coconnier-Polter M.-H. (2005)
    8. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (2003)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Identification of MUC1 proteolytic cleavage sites in vivo. (PubMed id 11341784)2 Parry S....Harris A. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10071 HGNC: 7510 AceView: MUC12 Ensembl:ENSG00000205277 euGenes: HUgn10071
    ECgene: MUC12 H-InvDB: MUC12

    (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 MUC12 Pharmacogenomics, SNPs, Pathways
    Mucin databasehttp://www.medkem.gu.se/mucinbiology/databases/

    (Patent information from GeneIP,
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    Patent Information for MUC12 gene:
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