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MUC12 Gene

protein-coding   GIFtS: 51
GCID: GC07P100612

Mucin 12, Cell Surface Associated

(Previous name: mucin 11)
(Previous symbol: MUC11)
  See related diseases
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
Mucin 12, Cell Surface Associated1 2     MUC-122 3
MUC111 2 3 5     mucin-112
Mucin 111 2     mucin-122
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MUC12 Gene:
MUC12 (mucin 12, cell surface associated) is a protein-coding gene. Diseases associated with MUC12 include otitis media, and ulcerative colitis. An important paralog of this gene is MUC3A.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007933.16  
Regulatory elements:
   Search for regulatory transcription factor binding sites for MUC12
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: MUC12_HUMAN, Q9UKN1 (See protein sequence)
Recommended Name: Mucin-12 precursor  
Size: 5478 amino acids; 558164 Da
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

Explore proteomics data for MUC12 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn154, Asn170, Asn176, Asn382, Asn738, Asn1793, Asn3350, Asn4433, Asn4571, Asn5169,
                                 Asn5182, Asn5197, Asn5228, Asn5264
  • Modification sites at PhosphoSitePlus

  • See MUC12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001157934.1  
    ENSEMBL proteins: 
     ENSP00000368755   ENSP00000306919   ENSP00000441929  
    Reactome Protein details: Q9UKN1

    MUC12 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for MUC12


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MUC: Mucins

    2 InterPro protein domains:
     IPR000082 SEA_dom
     IPR013032 EGF-like_CS

    Graphical View of Domain Structure for InterPro Entry Q9UKN1

    ProtoNet protein and cluster: Q9UKN1

    1 Blocks protein domain: 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


    MUC12 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    MUC12 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MUC12:
     G0/1 arrest  Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MUC12
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    (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
    MUC12_HUMAN, Q9UKN1: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    golgi apparatus4
    cytosol1
    endoplasmic reticulum1
    extracellular1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    MUC12 for ontologies           About GeneDecksing


    (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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    SuperPaths for MUC12 About    
    See pathways by source

    SuperPathContained pathways About
    1O-linked glycosylation of mucins
    O-linked glycosylation of mucins0.47
    Termination of O-glycan biosynthesis0.38
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for MUC12
        O-linked glycosylation of mucins
    Termination of O-glycan biosynthesis



    MUC12 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MUC12
    Interactions:

        Search GeneGlobe Interaction Network for MUC12

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

    Selected Interacting proteins for MUC12 (Q9UKN13 ENSP000003687554) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    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:    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, 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 MUC12



    (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, Primers from OriGene, and/or QIAGEN )
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    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)
    miRNA
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    Additional mRNA sequence: 

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

    Selected 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 

    Selected AceView cDNA sequences (see all 216):

    AW849376 BX104713 BM987949 BQ719224 AI732436 AW849507 AF147790 BG982489 
    BG959491 AI763064 AW849669 AW375789 AW938895 AW849432 AW844747 AW848722 
    BE927868 BG956079 BE927962 AK130455 AW572433 BF768293 AK024856 BF341001 

    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™, 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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    MUC12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAGCTGCAA
    MUC12 Expression
    About this image


    MUC12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Colon (Gastrointestinal Tract)
    MUC12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MUC12 Protein Expression

    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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    (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 chordates.

    Orthologs for MUC12 gene from Selected species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    platypus
    (Ornithorhynchus anatinus)
    Mammalia --
    --
    32(a)
    1 → many
    Contig25281(154-8729)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    27(a)
    many ↔ many
    6(62094334-62111444)


    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)
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    Paralogs for MUC12 gene
    MUC3A2  MUC172  
    4 SIMAP similar genes for MUC12 using alignment to 5 protein entries:     MUC12_HUMAN (see all proteins):
    MUC3B    MUC17    MUC4    MUC3A

    MUC12 for paralogs           About GeneDecksing



    (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 MUC12 (see all 1607)    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
         Database of Genomic Variants (DGV) Selected variations for MUC12 (see all 21):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1426303CNV Deletion17803354
    dgv1155e201CNV Deletion23290073
    dgv1154e201CNV Deletion23290073
    esv2734888CNV Deletion23290073
    esv2667109CNV Deletion23128226
    esv2734907CNV Deletion23290073
    nsv820330CNV Duplication20802225
    nsv5872CNV Insertion18451855
    nsv7CNV Insertion15895083
    nsv8CNV Insertion15895083

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for MUC12

    (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.)
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    OMIM gene information: 604609    OMIM disorders: --

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


    MUC12 for disorders           About GeneDecksing

    2 Novoseek inferred 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)
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    PubMed articles for MUC12 gene, integrated from 10 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. (Cancer Res. 1999)
    2. A human MAP kinase interactome. (PubMed id 20936779)1 Bandyopadhyay S....Ideker T. (Nat. Methods 2010)
    3. MUC12 mRNA expression is an independent marker of prognosis in stage II and stage III colorectal cancer. (PubMed id 20162577)1 Matsuyama T....Sugihara K. (Int. J. Cancer 2010)
    4. Mucin gene expression in human laryngeal epithelia: effect of laryngopharyngeal reflux. (PubMed id 18834073)1 Samuels T.L....Johnston N. (Ann. Otol. Rhinol. Laryngol. 2008)
    5. Aberrant intestinal expression and allelic variants of mucin genes associated with inflammatory bowel disease. (PubMed id 17058067)2 Moehle C.... Schmitz G. (J. Mol. Med. 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. (FEBS J. 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. (Cell. Microbiol. 2005)
    8. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (Nature 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Identification of MUC1 proteolytic cleavage sites in vivo. (PubMed id 11341784)2 Parry S....Harris A. (Biochem. Biophys. Res. Commun. 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)
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    Entrez Gene: 10071 HGNC: 7510 AceView: MUC12 Ensembl:ENSG00000205277 euGenes: HUgn10071
    ECgene: MUC12 H-InvDB: MUC12

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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:
    Search GeneIP for patents involving MUC12

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