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

Gene ID: 4589, updated on 5-Mar-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
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Genomic context

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Location:
4q13.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (70430492..70482997)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (73771521..73824025)
105.20220307 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: 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. MUC7 VNTR polymorphism and association with bronchial asthma in Egyptian children. Saad EA, et al. Sci Rep, 2022 Nov 7. PMID 36344553, Free PMC Article
  2. Reduced sialyl-Lewis(x) on salivary MUC7 from patients with burning mouth syndrome. Acharya S, et al. Mol Omics, 2019 Oct 7. PMID 31414088
  3. High mucin-7 expression is an independent predictor of adverse clinical outcomes in patients with clear-cell renal cell carcinoma. NguyenHoang S, et al. Tumour Biol, 2016 Nov. PMID 27683054
  4. Reduced Mucin-7 (Muc7) Sialylation and Altered Saliva Rheology in Sjögren's Syndrome Associated Oral Dryness. Chaudhury NM, et al. Mol Cell Proteomics, 2016 Mar. PMID 26631508, Free PMC Article
  5. 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

See all (58) 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
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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)

Genotypes

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_2023_10

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

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