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    MUC2 mucin 2, oligomeric mucus/gel-forming [ Homo sapiens (human) ]

    Gene ID: 4583, updated on 7-May-2017
    Official Symbol
    MUC2provided by HGNC
    Official Full Name
    mucin 2, oligomeric mucus/gel-formingprovided by HGNC
    Primary source
    HGNC:HGNC:7512
    See related
    MIM:158370
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MLP; SMUC; MUC-2
    Summary
    This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. The protein polymerizes into a gel of which 80% is composed of oligosaccharide side chains by weight. The protein features a central domain containing tandem repeats rich in threonine and proline that varies between 50 and 115 copies in different individuals. Downregulation of this gene has been observed in patients with Crohn disease and ulcerative colitis. [provided by RefSeq, Oct 2016]
    Annotation information
    Annotation category: partial on reference assembly
    Orthologs
    Location:
    11p15.5
    Exon count:
    51
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (1074875..1110508)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1074875..1104417)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927503 Neighboring gene uncharacterized LOC107987157 Neighboring gene mucin 5AC, oligomeric mucus/gel-forming Neighboring gene mucin 5B, oligomeric mucus/gel-forming Neighboring gene microRNA 6744

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
    NHGRI GWA Catalog
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    O-glycan processing TAS
    Traceable Author Statement
    more info
     
    maintenance of gastrointestinal epithelium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    stimulatory C-type lectin receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    Golgi lumen TAS
    Traceable Author Statement
    more info
     
    inner mucus layer ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    outer mucus layer ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    mucin-2
    Names
    mucin 2, intestinal/tracheal

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_051929.1 RefSeqGene

      Range
      5001..42531
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002457.4NP_002448.4  mucin-2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC256300

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      1074875..1110508
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 PATCHES

    Genomic

    1. NW_015148966.1 Reference GRCh38.p7 PATCHES

      Range
      62448..99978
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_3

    Genomic

    1. NT_187681.1 Reference GRCh38.p7 ALT_REF_LOCI_3

      Range
      149268..178809
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      1073796..1103732
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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