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    MUC7 mucin 7, secreted [ Homo sapiens (human) ]

    Gene ID: 4589, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MUC7provided by HGNC
    Official Full Name
    mucin 7, secretedprovided by HGNC
    Primary source
    HGNC:HGNC:7518
    See related
    Ensembl:ENSG00000171195 MIM:158375; AllianceGenome:HGNC:7518
    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
    MG2
    Summary
    This gene encodes a small salivary mucin, which is thought to play a role in facilitating the clearance of bacteria in the oral cavity and to aid in mastication, speech, and swallowing. The central domain of this glycoprotein contains tandem repeats, each composed of 23 amino acids. This antimicrobial protein has antibacterial and antifungal activity. The most common allele contains 6 repeats, and some alleles may be associated with susceptibility to asthma. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Oct 2014]
    Expression
    Restricted expression toward salivary gland (RPKM 5748.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See MUC7 in Genome Data Viewer
    Location:
    4q13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (70430492..70482997)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (73771521..73824025)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (71296209..71348714)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene submaxillary gland androgen regulated protein 3B Neighboring gene opiorphin prepropeptide Neighboring gene amelotin Neighboring gene ReSE screen-validated silencer GRCh37_chr4:71464845-71465050 Neighboring gene ameloblastin

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Functional analysis of human MUC7 mucin gene 5'-flanking region in lung epithelial cells. Li S, et al. Am J Respir Cell Mol Biol, 2006 Nov. PMID 16778149, Free PMC Article
    2. Absence of capsule reveals glycan-mediated binding and recognition of salivary mucin MUC7 by Streptococcus pneumoniae. Thamadilok S, et al. Mol Oral Microbiol, 2016 Apr. PMID 26172471, Free PMC Article
    3. Salivary mucin MUC7 oligosaccharides in patients with recurrent aphthous stomatitis. Zad M, et al. Clin Oral Investig, 2015 Nov. PMID 26051835
    4. Gold nanotheranostics: photothermal therapy and imaging of Mucin 7 conjugated antibody nanoparticles for urothelial cancer. Chen CH, et al. Biomed Res Int, 2015. PMID 25834826, Free PMC Article
    5. Selected reaction monitoring to differentiate and relatively quantitate isomers of sulfated and unsulfated core 1 O-glycans from salivary MUC7 protein in rheumatoid arthritis. Flowers SA, et al. Mol Cell Proteomics, 2013 Apr. PMID 23457413, Free PMC Article

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Diagnostic accuracy of MUC7 expression for bladder cancer: A systematic review and meta-analysis.
      Title: Diagnostic accuracy of MUC7 expression for bladder cancer: A systematic review and meta-analysis.
    2. MUC7 VNTR polymorphism and association with bronchial asthma in Egyptian children.
      Title: MUC7 VNTR polymorphism and association with bronchial asthma in Egyptian children.
    3. Streptococcus oralis Employs Multiple Mechanisms of Salivary Mucin Binding That Differ Between Strains.
      Title: Streptococcus oralis Employs Multiple Mechanisms of Salivary Mucin Binding That Differ Between Strains.
    4. Mucins 5b and 7 and secretory IgA in the oral acquired pellicle of children with caries and caries-free children.
      Title: Mucins 5b and 7 and secretory IgA in the oral acquired pellicle of children with caries and caries-free children.
    5. The comparative inhibitory potency of salivary mucins against human immunodeficiency virus type 1.
      Title: The comparative inhibitory potency of salivary mucins against human immunodeficiency virus type 1.
    6. These data suggest a chemokine driven alteration of MUC7 glycosylation in patients with burning mouth syndrome.
      Title: Reduced sialyl-Lewis(x) on salivary MUC7 from patients with burning mouth syndrome.
    7. reduced salivary concentration linked to dental caries
      Title: MUC7 Level As A New Saliva Risk Factor For Dental Caries In Adult Patients.
    8. The genotypic polymorphisms of IL-1beta -511 and +3954, and of MUC7 VNTR, had no direct associations with the development of BMS. However, the T allele of IL-1beta -511 may increase the risk of BMS by increasing psychological asthenia.
      Title: Polymorphisms of interleukin-1β and MUC7 genes in burning mouth syndrome.
    9. High expression of MUC7 is associated with clear-cell renal cell carcinoma.
      Title: High mucin-7 expression is an independent predictor of adverse clinical outcomes in patients with clear-cell renal cell carcinoma.
    10. A capsule-free mutant of S. pneumoniae TIGR4 binds to salivary proteins, most prominently to mucin MUC7, but that this binding was not mediated through PsrP or recognition of sialic acid.
      Title: Absence of capsule reveals glycan-mediated binding and recognition of salivary mucin MUC7 by Streptococcus pneumoniae.
    Submit: New GeneRIF Correction See all GeneRIFs (32)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Inherited susceptibility to asthma
    MedGen: C1869116 OMIM: 600807 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ27047, MGC34772, DKFZp686J03256

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in antimicrobial humoral immune response mediated by antimicrobial peptide IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in killing of cells of another organism IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    mucin-7
    Names
    MUC-7
    apo-MG2
    mucin 7, salivary
    mucin MG2
    salivary mucin-7

    NCBI Reference Sequences (RefSeq)

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    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_012348.2 RefSeqGene

      Range
      46707..57507
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145006.2 → NP_001138478.1  mucin-7 precursor

      See identical proteins and their annotated locations for NP_001138478.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Transcript variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC106884, AC108518
      Consensus CDS
      CCDS3541.1
      UniProtKB/Swiss-Prot
      Q8TAX7, Q9UCD7, Q9UCD8
      Related
      ENSP00000407422.1, ENST00000413702.5
      Conserved Domains (1) summary
      PRK12323
      Location:141 → 358
      PRK12323; DNA polymerase III subunits gamma and tau; Provisional

    2. NM_001145007.2 → NP_001138479.1  mucin-7 precursor

      See identical proteins and their annotated locations for NP_001138479.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal non-coding exon, hence has a different 5' UTR compared to transcript variant 1. Transcript variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC108518
      Consensus CDS
      CCDS3541.1
      UniProtKB/Swiss-Prot
      Q8TAX7, Q9UCD7, Q9UCD8
      Related
      ENSP00000400585.1, ENST00000456088.5
      Conserved Domains (1) summary
      PRK12323
      Location:141 → 358
      PRK12323; DNA polymerase III subunits gamma and tau; Provisional

    3. NM_152291.3 → NP_689504.2  mucin-7 precursor

      See identical proteins and their annotated locations for NP_689504.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the shortest transcript and has a different 5' UTR compared to transcript variant 1. Transcript variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC108518
      Consensus CDS
      CCDS3541.1
      UniProtKB/Swiss-Prot
      Q8TAX7, Q9UCD7, Q9UCD8
      Related
      ENSP00000302021.5, ENST00000304887.6
      Conserved Domains (1) summary
      PRK12323
      Location:141 → 358
      PRK12323; DNA polymerase III subunits gamma and tau; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      70430492..70482997
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047415723.1 → XP_047271679.1  mucin-7 isoform X1

      UniProtKB/Swiss-Prot
      Q8TAX7, Q9UCD7, Q9UCD8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      73771521..73824025
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350095.1 → XP_054206070.1  mucin-7 isoform X1

      UniProtKB/Swiss-Prot
      Q8TAX7, Q9UCD7, Q9UCD8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TAX7.2 GenPept UniProtKB/Swiss-Prot:Q8TAX7

    Gene LinkOut

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